Mitchell (Mitch) R. Lunn, MD, MAS, FACP, FASN (he/him/his) is an Assistant Professor in the Division of Nephrology of the Department of Medicine at Stanford University School of Medicine.
As an internist and nephrologist with a strong interest in technology and sexual and gender minority health, Mitch’s research is designed to characterize the health and well-being of these populations. Sexual and gender minority (SGM) people – which primarily includes members of the lesbian, gay, bisexual, transgender, and queer (LGBTQ) communities – face numerous health and healthcare disparities. Through the use of existing and emerging technologies, Mitch focuses on improving understanding of the factors that positively and negatively influence SGM health including research on SGM health disparities, SGM societal experiences (in and out of health care), provider education about SGM health, and institutional climate towards SGM people.
As a gay man and active researcher in SGM health for over a decade, Mitch brings vital experience and scholarship in engaging diverse, vulnerable, and hard-to-reach populations using technology-based and traditional methodologies. Mitch is the co-director of PRIDEnet, a participant-powered research network of SGM people that engages SGM communities at all stages of the biomedical research process: research question generation and prioritization, study design, recruitment, participation, data analysis, and results dissemination. PRIDEnet accomplishes its goals through a highly active Participant Advisory Committee and a Community Partner Consortium comprised of ~33 SGM-serving health centers, community centers, and service/advocacy organizations across the country. Mitch is also the co-director of The PRIDE Study, a national, online, prospective, longitudinal general health cohort study (launched May 2017) of over 23,000 SGM individuals that employs innovative technologies to bridge research gaps in the health of these medically underserved and vulnerable populations. The PRIDE Study’s state-of-the-art web-based research platform enables robust participant recruitment, cohort management, real-time cohort statistics, comprehensive survey administration, facile deployment of studies to cohort segments, and linkage with mHealth devices.
Mitch is a long-standing advocate for SGM inclusion in research and higher education who lectures around the country on SGM medical education, SGM health, SGM cultural competency/humility, and SGM community engagement. In recognition of his work, he received the 2015 University of California, San Francisco (UCSF) Chancellor’s Award for Gay, Lesbian, Bisexual, and Transgender Leadership. He currently serves on the American Society of Nephrology’s Diversity and Inclusion Committee.
Mitch earned his Bachelor of Science degree with highest thesis honors from Tufts University in 2004, his Doctor of Medicine degree from Stanford University School of Medicine in 2010, and his Masters in Advanced Studies degree in Clinical Research from the University of California, San Francisco (UCSF) in 2017. He completed internal medicine internship and residency training at Brigham and Women’s Hospital in 2013 and nephrology fellowship at UCSF in 2016.
In addition to his professional pursuits, he is interested in French language and culture, travel, and aviation.
- LGBTQ+ Health
- Internal Medicine
Assistant Professor of Medicine, Stanford University School of Medicine (2019 - Present)
Assistant Professor of Medicine, University of California, San Francisco (2016 - 2019)
Honors & Awards
Fellow (FACP), American College of Physicians (2020)
Fellow (FASN), American Society of Nephrology (2017)
Boards, Advisory Committees, Professional Organizations
Member, American Society of Nephrology Diversity & Inclusion Committee (2017 - Present)
Board Certification, American Board of Preventive Medicine, Clinical Informatics (2021)
MAS, University of California, San Francisco, Clinical Research (2017)
Fellowship, University of California, San Francisco, Nephrology (2016)
Board Certification, American Board of Internal Medicine, Nephrology (2015)
Board Certification, American Board of Internal Medicine, Internal Medicine (2013)
Residency, Brigham and Women's Hospital, Internal Medicine (2013)
Internship, Brigham and Women's Hospital, Internal Medicine (2011)
MD, Stanford University School of Medicine, Medicine (2010)
BS, Tufts University, Biology and French (2004)
Current Research and Scholarly Interests
Project RESIST: Increasing Resistance to Tobacco Marketing Among Young Adult Sexual Minority Women Using Inoculation Message Approaches
Project RESIST is an R01 study funded by NCI focused on determining the effects of using culturally tailored inoculation approaches to increase resilience to tobacco marketing influences among young adult sexual minority women ages 18-30 and incorporates critical stakeholder inputs that support later adoption and implementation. The study team is utilizing formative research to design and pre-test anti-smoking messages and two national longitudinal online survey experiments.
Stanford is currently not accepting patients for this trial. For more information, please contact Mitchell Lunn, MD, MAS, FACP, FASN, 650-725-7783.
- Sexual Orientation Diversity and Specialty Choice Among Graduating Allopathic Medical Students in the United States. JAMA network open 2021; 4 (9): e2126983
- From 'Shark-Week' to 'Mangina': An Analysis of Words Used by People of Marginalized Sexual Orientations and/or Gender Identities to Replace Common Sexual and Reproductive Health Terms HEALTH EQUITY 2021; 5 (1): 707-717
Abortion attempts without clinical supervision among transgender, nonbinary and gender-expansive people in the United States.
BMJ sexual & reproductive health
Transgender, nonbinary and gender-expansive (TGE) people face barriers to abortion care and may consider abortion without clinical supervision.In 2019, we recruited participants for an online survey about sexual and reproductive health. Eligible participants were TGE people assigned female or intersex at birth, 18 years and older, from across the United States, and recruited through The PRIDE Study or via online and in-person postings.Of 1694 TGE participants, 76 people (36% of those ever pregnant) reported considering trying to end a pregnancy on their own without clinical supervision, and a subset of these (n=40; 19% of those ever pregnant) reported attempting to do so. Methods fell into four broad categories: herbs (n=15, 38%), physical trauma (n=10, 25%), vitamin C (n=8, 20%) and substance use (n=7, 18%). Reasons given for abortion without clinical supervision ranged from perceived efficiency and desire for privacy, to structural issues including a lack of health insurance coverage, legal restrictions, denials of or mistreatment within clinical care, and cost.These data highlight a high proportion of sampled TGE people who have attempted abortion without clinical supervision. This could reflect formidable barriers to facility-based abortion care as well as a strong desire for privacy and autonomy in the abortion process. Efforts are needed to connect TGE people with information on safe and effective methods of self-managed abortion and to dismantle barriers to clinical abortion care so that TGE people may freely choose a safe, effective abortion in either setting.
View details for DOI 10.1136/bmjsrh-2020-200966
View details for PubMedID 33674348
Community norms of the Muscle Dysmorphic Disorder Inventory (MDDI) among gender minority populations.
Journal of eating disorders
2021; 9 (1): 87
Representing the pathological extreme pursuit of muscularity, muscle dysmorphia (MD) is characterized by a pervasive belief or fear around insufficient muscularity and an elevated drive for muscularity. Despite evidence of heightened body image-related concerns among gender minority populations, little is known about the degree of MD symptoms among gender minorities, particularly based on Muscle Dysmorphic Disorder Inventory (MDDI) scores. The objective of this study was to assess community norms of the MDDI in gender-expansive people, transgender men, and transgender women.Data from participants in The PRIDE Study, an existing study of health outcomes in sexual and gender minority people, were examined. We calculated means, standard deviations, and percentiles for the MDDI total and subscale scores among gender-expansive people (i.e., those who identify outside of the binary system of man or woman; n = 1023), transgender men (n = 326), and transgender women (n = 177). The Kruskal-Wallis test was used to assess group differences and post hoc Dunn's tests were used to examine pairwise differences.Transgender men reported the highest mean MDDI total score (30.5 ± 7.5), followed by gender-expansive people (27.2 ± 6.7), then transgender women (24.6 ± 5.7). The differences in total MDDI score were driven largely by the Drive for Size subscale and, to a lesser extent, the Functional Impairment subscale. There were no significant differences in the Appearance Intolerance subscale among the three groups.Transgender men reported higher Drive for Size, Functional Impairment, and Total MDDI scores compared to gender-expansive people and transgender women. These norms provide insights into the experience of MD symptoms among gender minorities and can aid researchers and clinicians in the interpretation of MDDI scores among gender minority populations.
View details for DOI 10.1186/s40337-021-00442-4
View details for PubMedID 34261536
Pregnancy intentions and outcomes among transgender, nonbinary, and gender-expansive people assigned female or intersex at birth in the United States: Results from a national, quantitative survey.
International journal of transgender health
2021; 22 (1-2): 30-41
Background: Transgender, nonbinary, and gender-expansive (TGE) people experience pregnancy. Quantitative data about pregnancy intentions and outcomes of TGE people are needed to identify patterns in pregnancy intentions and outcomes and to inform clinicians how best to provide gender-affirming and competent pregnancy care. Aims: We sought to collect data on pregnancy intentions and outcomes among TGE people assigned female or intersex at birth in the United States. Methods: Collaboratively with a study-specific community advisory team, we designed a customizable, online survey to measure sexual and reproductive health experiences among TGE people. Eligible participants included survey respondents who identified as a man or within the umbrella of transgender, nonbinary, or gender-expansive identities; were 18 years or older; able to complete an electronic survey in English; lived in the United States; and were assigned female or intersex at birth. Participants were recruited through The PRIDE Study - a national, online, longitudinal cohort study of sexual and gender minority people - and externally via online social media postings, TGE community e-mail distribution lists, in-person TGE community events, and academic and community conferences. We conducted descriptive analyses of pregnancy-related outcomes and report frequencies overall and by racial and ethnic identity, pregnancy intention, or testosterone use. Results: Out of 1,694 eligible TGE respondents who provided reproductive history data, 210 (12%) had been pregnant. Of these, 115 (55%) had one prior pregnancy, 47 (22%) had two prior pregnancies, and 48 (23%) had three or more prior pregnancies. Of the 433 pregnancies, 169 (39%) resulted in live birth, 142 (33%) miscarried, 92 (21%) ended in abortion, two (0.5%) ended in stillbirth, two (0.5%) had an ectopic pregnancy, and seven (2%) were still pregnant; nineteen pregnancies (4%) had an unknown outcome. Among live births, 39 (23%) were delivered via cesarean section. Across all pregnancies, 233 (54%) were unintended. Fifteen pregnancies occurred after initiation of testosterone, and four pregnancies occurred while taking testosterone. Among all participants, 186 (11%) wanted a future pregnancy, and 275 (16%) were unsure; 182 (11%) felt "at risk" for an unintended pregnancy. Discussion: TGE people in the United States plan for pregnancy, experience pregnancy (intended and unintended) and all pregnancy outcomes, and are engaged in family building. Sexual and reproductive health clinicians and counselors should avoid assumptions about pregnancy capacity or intentions based on a patient's presumed or stated gender or engagement with gender-affirming hormone therapy.
View details for DOI 10.1080/26895269.2020.1841058
View details for PubMedID 34796363
View details for PubMedCentralID PMC8040680
Minority Stress, Structural Stigma, and Physical Health Among Sexual and Gender Minority Individuals: Examining the Relative Strength of the Relationships.
Annals of behavioral medicine : a publication of the Society of Behavioral Medicine
Sexual and gender minority (SGM; i.e., non-heterosexual and transgender or gender-expansive, respectively) people experience physical health disparities attributed to greater exposure to minority stress (experiences of discrimination or victimization, anticipation of discrimination or victimization, concealment of SGM status, and internalization of stigma) and structural stigma.To examine which components of minority stress and structural stigma have the strongest relationships with physical health among SGM people.Participants (5,299 SGM people, 1,902 gender minority individuals) were from The Population Research in Identity and Disparities for Equality (PRIDE) Study. Dominance analyses estimated effect sizes showing how important each component of minority stress and structural stigma was to physical health outcomes.Among cisgender sexual minority women, transmasculine individuals, American Indian or Alaskan Native SGM individuals, Asian SGM individuals, and White SGM individuals a safe current environment for SGM people had the strongest relationship with physical health. For gender-expansive individuals and Black, African American, or African SGM individuals, the safety of the environment for SGM people in which they were raised had the strongest relationship with physical health. Among transfeminine individuals, victimization experiences had the strongest relationship with physical health. Among Hispanic, Latino, or Spanish individuals, accepting current environments had the strongest relationship with physical health. Among cisgender sexual minority men prejudice/discrimination experiences had the strongest relationship with physical health.Safe community environments had the strongest relationships with physical health among most groups of SGM people. Increasing safety and buffering the effects of unsafe communities are important for SGM health.
View details for DOI 10.1093/abm/kaab051
View details for PubMedID 34228052
Community norms of the Muscle Dysmorphic Disorder Inventory (MDDI) among cisgender sexual minority men and women.
2021; 21 (1): 297
Representing the pathological extreme pursuit of muscularity, muscle dysmorphia (MD) is characterized by a pervasive belief or fear around insufficient muscularity and an elevated drive for muscularity. Despite evidence of elevated body image-related concerns among sexual minority populations, little is known about the degree of muscle dysmorphia (MD) symptoms among sexual minorities, particularly based on Muscle Dysmorphic Disorder Inventory (MDDI) scores. The objective of this study was to examine the nature and severity of MD symptoms in cisgender sexual minority men and women and provide community norms of the MDDI for these populations.Data from participants in The PRIDE Study, an existing study of health outcomes in sexual and gender minority people from the United States, were examined. Participants included cisgender gay men (N = 1090), cisgender bisexual plus (bisexual, pansexual, and/or polysexual) men (N = 100), cisgender lesbian women (N = 563), and cisgender bisexual plus women (N = 507). We calculated means, standard deviations (SD), and percentiles for the MDDI total and subscale scores for cisgender sexual minority men and women. We compared MDDI scores by sexual orientation using linear regression models, both unadjusted and adjusted for sociodemographics.Overall, the sample was 85.2% White, 3.0% Asian or Pacific Islander, 2.0% Black, 0.5% Native American, 3.9% multiracial, and 6.6% Hispanic/Latino/a. The mean age was 38.6 (SD = 14.3) and 69.4% had a college degree or higher. Means (SD) for the MDDI total score were 27.4 (7.7) for cisgender gay men, 26.4 (6.4) for cisgender bisexual plus men, 24.3 (6.1) for cisgender lesbian women, and 24.6 (5.5) for cisgender bisexual plus women. There were no significant differences in MDDI scores between cisgender gay and bisexual plus men, or between cisgender lesbian women and bisexual plus women in unadjusted or adjusted models.These normative data provide insights into the experience of MD symptoms among cisgender sexual minority men and women and can aid researchers and clinicians in the evaluation of MD symptoms and interpretation of MDDI scores in sexual minority populations.
View details for DOI 10.1186/s12888-021-03302-2
View details for PubMedID 34103034
Adverse Childhood Experiences and Past 30-Day Cigarette and E-Cigarette Use Among Sexual and Gender Minority College Students.
Purpose: Sexual and gender minority (SGM) young adults report disproportionately higher rates of tobacco and nicotine product use. This study assessed the role of adverse childhood experiences (ACEs) in nicotine and tobacco product use among SGM young adults. Methods: A cross-sectional survey was administered to 11,694 college students (ages 18-29 years) between 2017 and 2018 in California, Minnesota, and Texas. Results: For every additional ACE reported, the odds of cigarette, e-cigarette, and dual use increased for all students, with significantly higher past 30-day cigarette use among ACE-exposed SGM students. Conclusion: ACEs are an important contributing factor to tobacco-related disparities facing SGM groups.
View details for DOI 10.1089/lgbt.2020.0456
View details for PubMedID 34129400
Hypertension prevalence in the All of Us Research Program among groups traditionally underrepresented in medical research.
2021; 11 (1): 12849
The All of Us Research Program was designed to enable broad-based precision medicine research in a cohort of unprecedented scale and diversity. Hypertension (HTN) is a major public health concern. The validity of HTN data and definition of hypertension cases in the All of Us (AoU) Research Program for use in rule-based algorithms is unknown. In this cross-sectional, population-based study, we compare HTN prevalence in the AoU Research Program to HTN prevalence in the 2015-2016 National Health and Nutrition Examination Survey (NHANES). We used AoU baseline data from patient (age ≥ 18) measurements (PM), surveys, and electronic health record (EHR) blood pressure measurements. We retrospectively examined the prevalence of HTN in the EHR cohort using Systemized Nomenclature of Medicine (SNOMED) codes and blood pressure medications recorded in the EHR. We defined HTN as the participant having at least 2 HTN diagnosis/billing codes on separate dates in the EHR data AND at least one HTN medication. We calculated an age-standardized HTN prevalence according to the age distribution of the U.S. Census, using 3 groups (18-39, 40-59, and ≥ 60). Among the 185,770 participants enrolled in the AoU Cohort (mean age at enrollment = 51.2 years) available in a Researcher Workbench as of October 2019, EHR data was available for at least one SNOMED code from 112,805 participants, medications for 104,230 participants, and 103,490 participants had both medication and SNOMED data. The total number of persons with SNOMED codes on at least two distinct dates and at least one antihypertensive medication was 33,310 for a crude prevalence of HTN of 32.2%. AoU age-adjusted HTN prevalence was 27.9% using 3 groups compared to 29.6% in NHANES. The AoU cohort is a growing source of diverse longitudinal data to study hypertension nationwide and develop precision rule-based algorithms for use in hypertension treatment and prevention research. The prevalence of hypertension in this cohort is similar to that in prior population-based surveys.
View details for DOI 10.1038/s41598-021-92143-w
View details for PubMedID 34158555
Online health information seeking, health literacy, and human papillomavirus vaccination among transgender and gender-diverse people.
Journal of the American Medical Informatics Association : JAMIA
The purpose of this study is to describe online health information seeking among a sample of transgender and gender diverse (TGD) people compared with cisgender sexual minority people to explore associations with human papillomavirus (HPV) vaccination, and whether general health literacy and eHealth literacy moderate this relationship.We performed a cross-sectional online survey of TGD and cisgender sexual minority participants from The PRIDE Study, a longitudinal, U.S.-based, national health study of sexual and gender minority people. We employed multivariable logistic regression to model the association of online health information seeking and HPV vaccination.The online survey yielded 3258 responses. Compared with cisgender sexual minority participants, TGD had increased odds of reporting HPV vaccination (aOR, 1.5; 95% CI, 1.1-2.2) but decreased odds when they had looked for information about vaccines online (aOR, 0.7; 95% CI, 0.5-0.9). TGD participants had over twice the odds of reporting HPV vaccination if they visited a social networking site like Facebook (aOR, 2.4; 95% CI, 1.1-5.6). No moderating effects from general or eHealth literacy were observed.Decreased reporting of HPV vaccination among TGD people after searching for vaccine information online suggests vaccine hesitancy, which may potentially be related to the quality of online content. Increased reporting of vaccination after using social media may be related to peer validation.Future studies should investigate potential deterrents to HPV vaccination in online health information to enhance its effectiveness and further explore which aspects of social media might increase vaccine uptake among TGD people.
View details for DOI 10.1093/jamia/ocab150
View details for PubMedID 34383916
Psychometric evaluation of the Muscle Dysmorphic Disorder Inventory (MDDI) among cisgender gay men and cisgender lesbian women.
2021; 38: 241–50
Despite increasing empirical interest in muscle dysmorphia (MD), a dearth of research has assessed this construct in sexual minority populations. In particular, the psychometric properties of one of the most widely used measures of MD symptoms-the Muscle Dysmorphic Disorder Inventory (MDDI)-have not been evaluated in sexual minority populations despite emerging evidence suggesting differential risk for MD symptoms across sexual orientation groups. In this study, we assessed the psychometric properties of the MDDI in a sample of 715 cisgender gay men and 404 cisgender lesbian women ages 18-50 years who participated in a large-scale national longitudinal cohort study of sexual and gender minority adults. The factor structure of the MDDI was examined in each sample using a two-step, split-sample exploratory and confirmatory factor analytic approach. Exploratory factor analysis supported a three-factor structure in both samples, which were confirmed by confirmatory factor analysis. Moreover, results supported the internal consistency reliability and convergent validity of the MDDI subscales in both samples. Cumulatively, these findings suggest that the MDDI is an appropriate measure of MD symptoms among cisgender gay men and cisgender lesbian women.
View details for DOI 10.1016/j.bodyim.2021.04.008
View details for PubMedID 33962223
- Pregnancy intentions and outcomes among transgender, nonbinary, and gender-expansive people assigned female or intersex at birth in the United States: Results from a national, quantitative survey INTERNATIONAL JOURNAL OF TRANSGENDER HEALTH 2020
Characterization of substance use among underrepresented sexual and gender minority participants in The Population Research in Identity and Disparities for Equality (PRIDE) Study.
Background: Profiles of substance use among less commonly described subgroups of sexual and gender minority (SGM) people (e.g., queer, genderqueer) remain largely unknown. Objective(s): To identify substance use differences among less commonly described SGM identity-based subgroups. Methods: The PRIDE Study is a national, online, longitudinal cohort study of self-identified SGM adults living in the U.S. Between 2015-2017, an iPhone application was used to administer three cross-sectional health questionnaires to participants, one of which included questions about binge alcohol, marijuana, and other drug use (substance use). This study was a secondary data analysis of participant responses to substance use survey items. Logistic regression and generalized linear modeling assessed relationships between sexual orientation or gender and use of or reported problems with substances within the past year. Results: Among the 1790 participants included in this study, 51.0% reported binge alcohol use, 39.8% reported marijuana use, and 19.7% reported other drug use (65.9% endorsed use of one or more of these) within the past year. Over 30% indicated substance use had been a problem in their life. Asexual individuals had lower odds of reporting past year binge alcohol and marijuana use (aOR: 0.27, 95% CI: 0.12-0.61; aOR: 0.38, 95% CI: 0.15-0.96, respectively), and queer participants had higher odds of reporting past year marijuana use (aOR: 2.52, 95% CI: 1.58-4.03) compared to lesbian participants. Gender nonbinary participants had lower odds of reporting past year binge alcohol use (aOR: 0.48, 95% CI: 0.32-0.71) and transmasculine participants had higher odds of reporting past year marijuana use (aOR: 2.18, 95% CI: 1.10-4.31) compared to cisgender women. Conclusions: Substance use heterogeneity exists between SGM groups. Comprehensive assessment of sexual orientation and gender may improve understanding of substance use and increase equity within support and treatment services for SGM populations.HighlightsWe examined substance use among less represented sexual and gender minority groups.Alcohol and other drug use were examined by both sexual orientation and gender identity.Analyses included identities such as queer, pansexual, genderqueer and nonbinary.Alcohol use differed across asexual, genderqueer and gender nonbinary groups.Marijuana use differed across queer, asexual and transmasculine groups.
View details for DOI 10.1080/08897077.2019.1702610
View details for PubMedID 32032500
- Ensuring Gender-Affirming Care in Nephrology: Improving Care for Transgender and Gender-Expansive Individuals. Clinical journal of the American Society of Nephrology : CJASN 2020
Screening gender minority people for harmful alcohol use.
2020; 15 (4): e0231022
This study identifies how to screen for harmful alcohol use among gender minority (e.g., transgender and gender-expansive) people using brief screening methods and identifies which screening methods perform best among gender-expansive, transfeminine, and transmasculine subgroups, as screening recommendations are not currently available. Using 2018 Annual Questionnaire data from The PRIDE Study, area under the curve (AUC) values were compared to identify which screening methods ("4 or more" or "5 or more" drinks on one occasion in the past year, or one or more items from the Alcohol Use Disorders Identification Test [AUDIT]) best predicted (i) harmful alcohol use and (ii) one or more past year alcohol dependence symptoms or consequences. Among 1892 participants, "5 or more" drinks on one occasion (AUC ranges: 0.82-0.86) performed better than "4 or more" drinks (AUC ranges: 0.78-0.81) in predicting harmful drinking. The screening methods "4 or more" drinks, "5 or more" drinks, and the consumption items of the AUDIT (AUDIT-C) using a cutoff score of 3 all maximized sensitivity and specificity to predict alcohol dependence symptoms or consequences in gender minority people overall (AUC: 0.77-0.78). Screening for "5 or more" drinks on one occasion within the past year performed as well as or better than other screening methods to detect both harmful drinking and alcohol dependence-related symptoms or consequences. This single-item screening method can identify if more extensive alcohol use assessment is warranted with gender minority people.
View details for DOI 10.1371/journal.pone.0231022
View details for PubMedID 32255781
What Sexual and Gender Minority People Want Researchers to Know About Sexual Orientation and Gender Identity Questions: A Qualitative Study.
Archives of sexual behavior
Sexual and gender minority (SGM) people-including members of the lesbian, gay, bisexual, transgender, and queer communities-are understudied and underrepresented in research. Current sexual orientation and gender identity (SOGI) questions do not sufficiently engage SGM people, and there is a critical gap in understanding how SOGI questions reduce inclusion and accurate empirical representation. We conducted a qualitative study to answer the question, "For SGM people, what are the major limitations with current SOGI questions?" Focus groups probed reactions to SOGI questions adapted from prior national surveys and clinical best practice guidelines. Questions were refined and presented in semi-structured cognitive interviews. Template analysis using a priori themes guided analysis. There were 74 participants: 55 in nine focus groups and 19 in cognitive interviews. Participants were diverse: 51.3% identified as gender minorities, 87.8% as sexual minorities, 8.1% as Hispanic/Latinx, 13.5% as Black or African-American, and 43.2% as Non-white. Two major themes emerged: (1) SOGI questions did not allow for identity fluidity and complexity, reducing inclusion and representation, and (2) SOGI question stems and answer choices were often not clear as to which SOGI dimension was being assessed. To our knowledge, this represents the largest body of qualitative data studying SGM perspectives when responding to SOGI questions. We present recommendations for future development and use of SOGI measures. Attention to these topics may improve meaningful participation of SGM people in research and implementation of such research within and for SGM communities.
View details for DOI 10.1007/s10508-020-01810-y
View details for PubMedID 32875381
Meeting the Patient Care, Education, and Research Missions: Academic Medical Centers Must Comprehensively Address Sexual and Gender Minority Health.
Academic medicine : journal of the Association of American Medical Colleges
While sociopolitical advances have improved the rights of sexual and gender minorities (i.e., lesbian, gay, bisexual, transgender, queer [LGBTQ+] persons), they continue to face a health system that discriminates against them and does not provide competent, comprehensive care. Despite calls for advancing research, there remains limited sexual and gender minority health research funding, mentorship, and institutional support. Academic medical centers are best suited to systematically tackle disparities and improve care for all sexual and gender minority people through their tripartite missions of patient care, education, and research. In this article, the authors outline discrimination experienced by LGBTQ+ persons and highlight the unique disparities they experience across access and outcomes. The authors posit that by systematically improving clinical care of, incorporating education and training about, and research with LGBTQ+ people into their core missions, academic medical centers can dramatically change the health care landscape. Academic medical centers can eliminate health disparities, expand necessary research endeavors about sexual and gender minorities, and prepare the health care workforce to address the unique needs of these overlooked populations.
View details for DOI 10.1097/ACM.0000000000003703
View details for PubMedID 32852319
Eating disorder attitudes and disordered eating behaviors as measured by the Eating Disorder Examination Questionnaire (EDE-Q) among cisgender lesbian women.
2020; 34: 215–20
The Eating Disorder Examination Questionnaire (EDE-Q) is a measure of eating disorder attitudes and disordered eating behaviors. Prior descriptive studies of the EDE-Q for women either did not assess or omitted reporting sexual orientation. This study's objective was to assess eating disorder attitudes and disordered eating behaviors as measured by the EDE-Q among cisgender lesbian women. We present mean scores and standard deviations for the EDE-Q among 563 self-identified cisgender lesbian women ages 18-77 who were recruited from The PRIDE Study in 2018. Among cisgender lesbian women, 3.4 % scored in the clinically significant range on the Restraint, 1.6 % on the Eating Concern, 9.1 % on the Weight Concern, 13.9 % on the Shape Concern, and 3.9 % on the Global Score scales of the EDE-Q. We found that 13.5 % of participants reported any occurrence (≥1/28 days) of dietary restriction, 8.7 % for objective binge episodes, 5.3 % for excessive exercise, .4% for self-induced vomiting, and .4% for laxative misuse. Participants reported a current (1.8 %) or lifetime (7.1 %) diagnosis of an eating disorder by a clinician. These EDE-Q descriptive data capture eating disorder attitudes and disordered eating behaviors among cisgender lesbian women and may aid clinicians and researchers in interpreting the EDE-Q in this specific population.
View details for DOI 10.1016/j.bodyim.2020.06.005
View details for PubMedID 32652490
Development of an affirming and customizable electronic survey of sexual and reproductive health experiences for transgender and gender nonbinary people.
2020; 15 (5): e0232154
To address pervasive measurement biases in sexual and reproductive health (SRH) research, our interdisciplinary team created an affirming, customizable electronic survey to measure experiences with contraceptive use, pregnancy, and abortion for transgender and gender nonbinary people assigned female or intersex at birth and cisgender sexual minority women. Between May 2018 and April 2019, we developed a questionnaire with 328 items across 10 domains including gender identity; language used for sexual and reproductive anatomy and events; gender affirmation process history; sexual orientation and sexual activity; contraceptive use and preferences; pregnancy history and desires; abortion history and preferences; priorities for sexual and reproductive health care; family building experiences; and sociodemographic characteristics. Recognizing that the words people use for their sexual and reproductive anatomy can vary, we programmed the survey to allow participants to input the words they use to describe their bodies, and then used those customized words to replace traditional medical terms throughout the survey. This process-oriented paper aims to describe the rationale for and collaborative development of an affirming, customizable survey of the SRH needs and experiences of sexual and gender minorities, and to present summary demographic characteristics of 3,110 people who completed the survey. We also present data on usage of customizable words, and offer the full text of the survey, as well as code for programming the survey and cleaning the data, for others to use directly or as guidelines for how to measure SRH outcomes with greater sensitivity to gender diversity and a range of sexual orientations.
View details for DOI 10.1371/journal.pone.0232154
View details for PubMedID 32365110
Recommendations for improving national clinical datasets for health equity research.
Journal of the American Medical Informatics Association : JAMIA
Health and healthcare disparities continue despite clinical, research, and policy efforts. Large clinical datasets may not contain data relevant to healthcare disparities and leveraging these for research may be crucial to improve health equity. The Health Disparities Collaborative Research Group was commissioned by the Patient-Centered Outcomes Research Institute to examine the data science needs for quality and complete data and provide recommendations for improving data science around health disparities. The group convened content experts, researchers, clinicians, and patients to produce these recommendations and suggestions for implementation. Our desire was to produce recommendations to improve the usability of healthcare datasets for health equity research. The recommendations are summarized in 3 primary domains: patient voice, accurate variables, and data linkage. The implementation of these recommendations in national datasets has the potential to accelerate health disparities research and promote efforts to reduce health inequities.
View details for DOI 10.1093/jamia/ocaa144
View details for PubMedID 32885240
Community norms for the eating disorder examination questionnaire (EDE-Q) among cisgender bisexual plus women and men.
Eating and weight disorders : EWD
Cisgender bisexual plus (including bisexual, pansexual, and polysexual) women and men experience unique health concerns including eating disorders. The purpose of this study was to develop community norms for eating disorder attitudes and disordered eating behaviors in cisgender bisexual plus women and men using the Eating Disorders Examination Questionnaire (EDE-Q).Participants were cisgender bisexual plus women (n = 462) and men (n = 93) participants in The PRIDE Study, an existing study of sexual and gender minority people.Mean and standard deviation of EDE-Q scores among cisgender bisexual plus women and men, respectively, were: Global (1.75 ± 1.26, 1.56 ± 1.18), Restraint (1.34 ± 1.44, 1.42 ± 1.53), Eating Concern (0.96 ± 1.13, 0.63 ± 0.96), Weight Concern 2.27 ± 1.55, 1.89 ± 1.46), and Shape Concern 42 ± 1.62, 2.30 ± 1.57). Among cisgender bisexual plus women and men, respectively, 27.5% and 22.6% scored in the clinically significant range on the Global score. Bisexual plus women and men reported any occurrence (≥ 1/28 days) of dietary restraint (19.3%, 23.7%), objective binge episodes (11.1%, 10.8%), excessive exercise (4.5%, 5.4%), self-induced vomiting (1.7%, 0.0%), and laxative misuse (0.4%, 1.1%), respectively. A lower percentage of age-matched cisgender bisexual plus women (18-25 years) reported any occurrence of objective binge episodes, self-induced vomiting, laxative misuse, and excessive exercise than previously published in young women. Age-matched cisgender bisexual plus men (18-26 years) reported higher weight concern subscale scores than previously published in young men.These norms should aid clinicians in applying and interpreting the EDE-Q scores of cisgender bisexual plus women and men.Level V: cross-sectional descriptive study.
View details for DOI 10.1007/s40519-020-01070-8
View details for PubMedID 33270173
Sexual Subcultures and HIV Prevention Methods: An Assessment of Condom Use, PrEP, and TasP Among Gay, Bisexual, and Other Men Who Have Sex with Men Using a Social and Sexual Networking Smartphone Application.
Archives of sexual behavior
Despite being grouped together in epidemiological risk categories, gay, bisexual, and other men who have sex with men (GBM) are not a homogenous group. In addition to traditional segmentation along race, ethnicity, and socioeconomic status, many GBM also identify with sexual subcultural communities. Previous research has shown differences across a variety of health outcomes between these sexual subcultural communities. The purpose of this study was to determine whether HIV prevention practices among GBM differed according to sexual subcultural community. The study was conducted in collaboration with a popular social and sexual networking smartphone application company. A total of 23,577 GBM responded to the survey. A latent class analysis identified 6 distinct classes related to sexual subcultural community identification. We found significant differences across sociodemographic characteristics, HIV prevention practices, and condomless anal sex in the past 6 months related to sexual subculture identification. Findings suggest that sexual subcultural identity is related to decision-making around HIV prevention among GBM. Differences in HIV prevention strategies are likely a function of group norms, unique shared experiences among GBM identifying with a particular sexual subculture community, and sociodemographic characteristics associated with these groups. As such, sexual subculture identity should be considered in developing interventions and social marketing campaigns to increase uptake of biomedical HIV prevention tools among GBM. Identifying group norms and shared experiences related to HIV prevention practices among sexual subcultures is necessary to understand the role these identities play in lives of GBM, especially as it relates to their sexual health and well-being.
View details for DOI 10.1007/s10508-020-01784-x
View details for PubMedID 32728870
- Depression and Anxiety Changes Among Sexual and Gender Minority People Coinciding with Onset of COVID-19 Pandemic. Journal of general internal medicine 2020
Community norms for the Eating Disorder Examination Questionnaire (EDE-Q) among gender-expansive populations.
Journal of eating disorders
2020; 8 (1): 74
Gender-expansive individuals (i.e., those who identify outside of the binary system of man or woman) are a marginalized group that faces discrimination and have a high burden of mental health problems, but there is a paucity of research on eating disorders in this population. This study aimed to describe the community norms for the Eating Disorder Examination Questionnaire (EDE-Q) in gender-expansive populations.The participants were 988 gender-expansive individuals (defined as neither exclusively cisgender nor binary transgender) from The PRIDE study, an existing longitudinal cohort study of health outcomes in sexual and gender minority people.We present the mean scores, standard deviations, and percentile ranks for the Global score and four subscale scores of the EDE-Q in this group as a whole and stratified by sex assigned at birth. Gender-expansive individuals reported any occurrence (≥1/28 days) of dietary restraint (23.0%), objective binge episodes (12.9%), excessive exercise (7.4%), self-induced vomiting (1.4%), or laxative misuse (1.2%). We found no statistically significant differences by sex assigned at birth. Compared to a prior study of transgender men and women, there were no significant differences in eating attitudes or disordered eating behaviors noted between gender-expansive individuals and transgender men. Transgender women reported higher Restraint and Shape Concern subscale scores compared to gender-expansive individuals. Compared to a prior study of presumed cisgender men 18-26 years, our age-matched gender-expansive sample had higher Eating, Weight, and Shape Concern subscales and Global Score, but reported a lower frequency of objective binge episodes and excessive exercise. Compared to a prior study of presumed cisgender women 18-25 years, our age-matched gender-expansive sample had a higher Shape Concern subscale score, a lower Restraint subscale score, and lower frequencies of self-induced vomiting, laxative misuse, and excessive exercise.Gender-expansive individuals reported lower Restraint and Shape Concern scores than transgender women; higher Eating, Weight, and Shape Concern scores than presumed cisgender men; and lower Restraint but higher Shape Concern scores than presumed cisgender women. These norms can help clinicians in treating this population and interpreting the EDE-Q scores of their gender-expansive patients.
View details for DOI 10.1186/s40337-020-00352-x
View details for PubMedID 33292636
Abortion experiences and preferences of transgender, nonbinary, and gender-expansive people in the United States.
American journal of obstetrics and gynecology
Transgender, nonbinary, and gender-expansive (TGE) people who were assigned female or intersex at birth experience pregnancy and have abortions. No data have been published on individual abortion experiences or preferences of this understudied population.To fill existing evidence gaps on the abortion experiences and preferences of TGE people in the United States to inform policies and practices to improve access to and quality of abortion care for this population.In 2019, we recruited TGE people assigned female or intersex at birth and aged 18 years and older from across the United States to participate in an online survey about sexual and reproductive health recruited through The PRIDE Study and online postings. We descriptively analyzed closed- and open-ended survey responses related to pregnancy history, abortion experiences, preferences for abortion method, recommendations to improve abortion care for TGE people, and respondent sociodemographic characteristics.The majority of the 1,694 respondents were less than 30 years of age. Respondents represented multiple gender identities and sexual orientations and resided across all four United States Census Regions. Overall, 210 (12%) respondents had ever been pregnant; these 210 reported 421 total pregnancies, of which 92 (22%) ended in abortion. For respondents' most recent abortion, 41 (61%) were surgical, 23 (34%) were medication, and 3 (4.5%) used another method (primarily herbal). Most recent abortions took place at or before nine weeks gestation (n=41, 61%). If they were to need an abortion today, respondents preferred medication abortion to surgical abortion three to one (n=703 versus n=217), but 514 (30%) respondents did not know which method they would prefer. Reasons for medication abortion preference among the 703 respondents included a belief that it is the least invasive method (n=553, 79%) and the most private method (n=388, 55%). To improve accessibility and quality of abortion care for TGE patients, respondents most frequently recommended that abortion clinics adopt gender-neutral or gender-affirming intake forms, that providers utilize gender-neutral language, and that greater privacy be incorporated into the clinic.These data contribute significantly to the evidence base on individual experiences of and preferences for abortion care for TGE people. Findings can be used to adapt abortion care to better include and affirm the experiences of this underserved population.
View details for DOI 10.1016/j.ajog.2020.09.035
View details for PubMedID 32986990
Community norms for the Eating Disorder Examination Questionnaire (EDE-Q) among transgender men and women.
2020; 37: 101381
Transgender men and women may be at risk for eating disorders, but prior community norms of the Eating Disorders Examination Questionnaire (EDE-Q) are based on presumed cisgender men and woman and have not intentionally included transgender people. The objective of this study was to develop community norms for eating disorder attitudes and disordered eating behaviors in transgender men and women using the EDE-Q. Participants were 312 transgender men and 172 transgender women participants in The PRIDE Study, an existing cohort study of sexual and gender minority people. We present mean scores, standard deviations, and percentile ranks for the Global score and four subscale scores of the EDE-Q in transgender men and women. Transgender men and women reported any occurrence (≥1/week) of dietary restraint (25.0% and 27.9%), objective binge episodes (11.2% and 12.8%), excessive exercise (8.0% and 8.1%), self-induced vomiting (1.6% and 1.7%), and laxative misuse (.3% and .6%), respectively. Compared to a prior study of presumed cisgender men 18-26 years (Lavender, De Young, & Anderson, 2010), our age-matched subsample of transgender men reported lower rates of objective binge episodes and excessive exercise. Compared to a prior study of presumed cisgender women 18-42 years (Mond, Hay, Rodgers, & Owen, 2006), we found that an age-matched sample of transgender women reported higher rates of dietary restraint but lower rates of excessive exercise. These norms should aid clinicians in applying and researchers in investigating and interpreting the EDE-Q scores of transgender men and women.
View details for DOI 10.1016/j.eatbeh.2020.101381
View details for PubMedID 32416588
- Supporting sexual and gender minority health: Research priorities from mental health professionals JOURNAL OF GAY & LESBIAN MENTAL HEALTH 2019
Community norms for the Eating Disorder Examination Questionnaire among cisgender gay men.
European eating disorders review : the journal of the Eating Disorders Association
Prior norms of the Eating Disorders Examination Questionnaire (EDE-Q) among men have not considered sexual orientation. This study's objective was to assess EDE-Q community norms among cisgender gay men.Participants were 978 self-identified cisgender gay men from The PRIDE Study recruited in 2018.We present mean scores and standard deviations for the EDE-Q among cisgender gay men ages 18-82. Among cisgender gay men, 4.0% scored in the clinically significant range on the global score, 5.7% on the restraint, 2.1% on the eating concern, 10.5% on the weight concern, and 21.4% on the shape concern subscales of the EDE-Q. The global score as well as weight and shape concerns in a young adult subsample (18-26 years) from The PRIDE Study were higher than previously reported norms in young men (Lavender, 2010). Participants reported any occurrence (≥1/28 days) of dietary restraint (19.8%), objective binge episodes (10.9%), excessive exercise (10.1%), laxative misuse (1.1%), and self-induced vomiting (0.6%). Binge eating, excessive exercise, and self-induced vomiting in The PRIDE Study subsample were lower than previously reported in young men.We provide EDE-Q norms among cisgender gay men, which should aid clinicians and researchers to interpret the EDE-Q scores of cisgender gay men.
View details for DOI 10.1002/erv.2708
View details for PubMedID 31793119
The "All of Us" Research Program.
The New England journal of medicine
2019; 381 (7): 668–76
Knowledge gained from observational cohort studies has dramatically advanced the prevention and treatment of diseases. Many of these cohorts, however, are small, lack diversity, or do not provide comprehensive phenotype data. The All of Us Research Program plans to enroll a diverse group of at least 1 million persons in the United States in order to accelerate biomedical research and improve health. The program aims to make the research results accessible to participants, and it is developing new approaches to generate, access, and make data broadly available to approved researchers. All of Us opened for enrollment in May 2018 and currently enrolls participants 18 years of age or older from a network of more than 340 recruitment sites. Elements of the program protocol include health questionnaires, electronic health records (EHRs), physical measurements, the use of digital health technology, and the collection and analysis of biospecimens. As of July 2019, more than 175,000 participants had contributed biospecimens. More than 80% of these participants are from groups that have been historically underrepresented in biomedical research. EHR data on more than 112,000 participants from 34 sites have been collected. The All of Us data repository should permit researchers to take into account individual differences in lifestyle, socioeconomic factors, environment, and biologic characteristics in order to advance precision diagnosis, prevention, and treatment.
View details for DOI 10.1056/NEJMsr1809937
View details for PubMedID 31412182
Using mobile technology to engage sexual and gender minorities in clinical research.
2019; 14 (5): e0216282
Historical and current stigmatizing and discriminatory experiences drive sexual and gender minority (SGM) people away from health care and clinical research. Being medically underserved, they face numerous disparities that make them vulnerable to poor health outcomes. Effective methods to engage and recruit SGM people into clinical research studies are needed.To promote health equity and understand SGM health needs, we sought to design an online, national, longitudinal cohort study entitled The PRIDE (Population Research in Identity and Disparities for Equality) Study that enabled SGM people to safely participate, provide demographic and health data, and generate SGM health-related research ideas.We developed an iPhone mobile application ("app") to engage and recruit SGM people to The PRIDE Study-Phase 1. Participants completed demographic and health surveys and joined in asynchronous discussions about SGM health-related topics important to them for future study.The PRIDE Study-Phase 1 consented 18,099 participants. Of them, 16,394 provided data. More than 98% identified as a sexual minority, and more than 15% identified as a gender minority. The sample was diverse in terms of sexual orientation, gender identity, age, race, ethnicity, geographic location, education, and individual income. Participants completed 24,022 surveys, provided 3,544 health topics important to them, and cast 60,522 votes indicating their opinion of a particular health topic.We developed an iPhone app that recruited SGM adults and collected demographic and health data for a new national online cohort study. Digital engagement features empowered participants to become committed stakeholders in the research development process. We believe this is the first time that a mobile app has been used to specifically engage and recruit large numbers of an underrepresented population for clinical research. Similar approaches may be successful, convenient, and cost-effective at engaging and recruiting other vulnerable populations into clinical research studies.
View details for DOI 10.1371/journal.pone.0216282
View details for PubMedID 31048870
A digital health research platform for community engagement, recruitment, and retention of sexual and gender minority adults in a national longitudinal cohort study--The PRIDE Study.
Journal of the American Medical Informatics Association : JAMIA
Sexual and gender minority (SGM) people are underrepresented in research. We sought to create a digital research platform to engage, recruit, and retain SGM people in a national, longitudinal, dynamic, cohort study (The PRIDE Study) of SGM health.We partnered with design and development firms and engaged SGM community members to build a secure, cloud-based, containerized, microservices-based, feature-rich, research platform. We created PRIDEnet, a national network of individuals and organizations that actively engaged SGM communities in all stages of health research. The PRIDE Study participants were recruited via in-person outreach, communications to PRIDEnet constituents, social media advertising, and word-of-mouth. Participants completed surveys to report demographic as well as physical, mental, and social health data.We built a secure digital research platform with engaging functionality that engaged SGM people and recruited and retained 13 731 diverse individuals in 2 years. A sizeable sample of 3813 gender minority people (32.8% of cohort) were recruited despite representing only approximately 0.6% of the population. Participants engaged with the platform and completed comprehensive annual surveys- including questions about sensitive and stigmatizing topics- to create a data resource and join a cohort for ongoing SGM health research.With an appealing digital platform, recruitment and engagement in online-only longitudinal cohort studies are possible. Participant engagement with meaningful, bidirectional relationships creates stakeholders and enables study cocreation. Research about effective tactics to engage, recruit, and maintain active participation from all communities is needed.This digital research platform successfully recruited and engaged diverse SGM participants in The PRIDE Study. A similar approach may be successful in partnership with other underrepresented and vulnerable populations.
View details for DOI 10.1093/jamia/ocz082
View details for PubMedID 31162545
- Advancing Equity in Nephrology: Enhancing Care for LGBTQ+ Patients and Our Workforce. Clinical journal of the American Society of Nephrology : CJASN 2019
Resilience Against Depression Disparities (RADD): a protocol for a randomised comparative effectiveness trial for depression among predominantly low-income, racial/ethnic, sexual and gender minorities.
2019; 9 (10): e031099
Depression is the leading cause of adult disability and common among sexual and gender minority (SGM) adults. The current study builds on findings showing the effectiveness of depression quality improvement (QI) and delivery of cognitive behavioural therapy (CBT) skills provided by community health workers in reducing depression. Depression QI approaches across healthcare and social/community services in safety-net settings have shown improvements in mental wellness, mental health quality of life and depression over 12 months. Further, a randomised study showed improved depression among low-income racial/ethnic minorities enrolled in a CBT-informed resiliency class (Building Resilience and Increasing Community Hope (B-RICH)). The current protocol describes a comparativeness effectiveness study to evaluate whether predominantly low-income, SGM racial/ethnic minority adults randomised to a CBT-informed resiliency class have improvements in depressive symptoms over and above community-engaged QI resources and training only.The study approached three clusters of four to five programs serving predominantly SGM and racial/ethnic minority communities in the USA: two clusters in Los Angeles, California, and one in New Orleans, Louisiana. Clusters are comprised of one primary care, one mental health and two to three community agencies (eg, faith-based, social services/support, advocacy). All programs received depression QI training. The current study employed a community-partnered participatory research model to adapt the CBT-informed resiliency class, B-RICH+, to SGM communities. Study participants were screened and recruited in person from participating programs, and will complete baseline, 6- and 12-month survey follow-ups. Participants were depressed adults (8-item Patient Health Questionnaire ≥10; ≥18 years of age) who provided contact information. Enrolled participants were individually randomised to B-RICH+ or depression QI alone. Primary outcomes are depressive symptoms; secondary outcomes are mental health quality of life, mental wellness and physical health quality of life. Data collection for this study is ongoing.The current study was approved by the UCLA Institutional Review Board. Study findings will be disseminated through scientific publications and community conferences.https://clinicaltrials.gov/ct2/show/NCT02986126.
View details for DOI 10.1136/bmjopen-2019-031099
View details for PubMedID 31641001
Genetic Counselors' and Genetic Counseling Students' Implicit and Explicit Attitudes toward Homosexuality.
Journal of genetic counseling
Members of the lesbian, gay, and bisexual (LGB) community experience significant health disparities. Widespread preferences for heterosexual over homosexual people among healthcare providers are believed to contribute to this inequity, making recognition (and ultimately reduction) of healthcare providers' sexual prejudices of import. The present study sought to characterize North American genetic counselors' and genetic counseling students' implicit and explicit attitudes toward homosexuality. During January 2017, 575 participants completed a Web-based survey and Sexuality Implicit Association Test (SIAT). A majority of participants (60.2%) harbored implicit preferences for heterosexual over homosexual people. Mean implicit attitude score (0.24) indicated a slight automatic preference for heterosexual over homosexual people, while mean explicit attitude score (0.033) indicated no preference for either group. Although participants' implicit and explicit attitudes were positively correlated (p < 0.001), there was greater implicit bias for heterosexual over homosexual people than suggested by explicit attitude scores (p < 0.001). Implicit attitudes differed across self-reported sexual orientation (p < 0.001), but not across gender, race, or genetic counseling specialty. Education has been demonstrated to be moderately effective at reducing sexual prejudices, and almost all participants (95.8%) indicated that they would support the implementation of genetic counseling curricula addressing lesbian, gay, bisexual, and transgender (LGBT) issues. The study's combined findings suggest that North American genetic counselors and genetic counseling students support, and may benefit from, the implementation of genetic counseling curricula addressing LGBT issues.
View details for PubMedID 30168102
The new era of precision population health: insights for the All of Us Research Program and beyond.
Journal of translational medicine
2018; 16 (1): 211
Although precision medicine has made advances in individualized patient treatments, there needs to be continued attention on tailored population health and prevention strategies (often termed "precision population health"). As we continue to link datasets and use "big data" approaches in medicine, inclusion of diverse populations and a focus on disparities reduction are key components within a precision population health framework. Specific recommendations from the All of Us Research Program and the Precision Public Health Summit provide examples for moving this field forward.
View details for DOI 10.1186/s12967-018-1585-5
View details for PubMedID 30053823
View details for PubMedCentralID PMC6062956
Sociodemographic Characteristics and Health Outcomes Among Lesbian, Gay, and Bisexual US Adults Using Healthy People 2020 Leading Health Indicators
2017; 4 (4): 283–94
This study aimed to characterize the sociodemographic characteristics of sexual minority (i.e., gay, lesbian, bisexual) adults and compare sexual minority and heterosexual populations on nine Healthy People 2020 leading health indicators (LHIs).Using a nationally representative, cross-sectional survey (National Health Interview Survey 2013-2015) of the civilian, noninstitutionalized population (228,893,944 adults), nine Healthy People 2020 LHIs addressing health behaviors and access to care, stratified using a composite variable of sex (female, male) and sexual orientation (gay or lesbian, bisexual, heterosexual), were analyzed individually and in aggregate.In 2013-2015, sexual minority adults represented 2.4% of the U.S.Compared to heterosexuals, sexual minorities were more likely to be younger and to have never married. Gays and lesbians were more likely to have earned a graduate degree. Gay males were more likely to have a usual primary care provider, but gay/lesbian females were less likely than heterosexuals to have a usual primary care provider and health insurance. Gay males received more colorectal cancer screening than heterosexual males. Gay males, gay/lesbian females, and bisexual females were more likely to be current smokers than their sex-matched, heterosexual counterparts. Binge drinking was more common in bisexuals compared to heterosexuals. Sexual minority females were more likely to be obese than heterosexual females; the converse was true for gay males. Sexual minorities underwent more HIV testing than their heterosexual peers, but bisexual males were less likely than gay males to be tested. Gay males were more likely to meet all eligible LHIs than heterosexual males. Overall, more sexual minority adults met all eligible LHIs compared to heterosexual adults. Similar results were found regardless of HIV testing LHI inclusion.Differences between sexual minorities and heterosexuals suggest the need for targeted health assessments and public health interventions aimed at reducing specific negative health behaviors.
View details for PubMedID 28727950
View details for PubMedCentralID PMC5564038
- Estimating the Prevalence of Sexual Minority Adolescents. JAMA 2017; 317 (16): 1691–92
Applying Organizational Change to Promote Lesbian, Gay, Bisexual, and Transgender Inclusion and Reduce Health Disparities.
2017; 4 (3): 174–80
Lesbian, gay, bisexual, and transgender (LGBT) populations face numerous barriers when accessing and receiving healthcare, which amplify specific LGBT health disparities. An effective strategic approach is necessary for academic health centers to meet the growing needs of LGBT populations. Although effective organizational change models have been proposed for other minority populations, the authors are not aware of any organizational change models that specifically promote LGBT inclusion and mitigate access barriers to reduce LGBT health disparities. With decades of combined experience, we identify elements and processes necessary to accelerate LGBT organizational change and reduce LGBT health disparities. This framework may assist health organizations in initiating and sustaining meaningful organizational change to improve the health and healthcare of the LGBT communities.
View details for DOI 10.1089/lgbt.2015.0148
View details for PubMedID 28296563
Lesbian, Gay, Bisexual, and Transgender Patient Care: Medical Students' Preparedness and Comfort.
Teaching and learning in medicine
2015; 27 (3): 254-263
Phenomenon: Lesbian, gay, bisexual, and transgender (LGBT) individuals face significant barriers in accessing appropriate and comprehensive medical care. Medical students' level of preparedness and comfort caring for LGBT patients is unknown.An online questionnaire (2009-2010) was distributed to students (n = 9,522) at 176 allopathic and osteopathic medical schools in Canada and the United States, followed by focus groups (2010) with students (n = 35) at five medical schools. The objective of this study was to characterize LGBT-related medical curricula, to determine medical students' assessments of their institutions' LGBT-related curricular content, and to evaluate their comfort and preparedness in caring for LGBT patients.Of 9,522 survey respondents, 4,262 from 170 schools were included in the final analysis. Most medical students (2,866/4,262; 67.3%) evaluated their LGBT-related curriculum as "fair" or worse. Students most often felt prepared addressing human immunodeficiency virus (HIV; 3,254/4,147; 78.5%) and non-HIV sexually transmitted infections (2,851/4,136; 68.9%). They felt least prepared discussing sex reassignment surgery (1,061/4,070; 26.1%) and gender transitioning (1,141/4,068; 28.0%). Medical education helped 62.6% (2,669/4,262) of students feel "more prepared" and 46.3% (1,972/4,262) of students feel "more comfortable" to care for LGBT patients. Four focus group sessions with 29 students were transcribed and analyzed. Qualitative analysis suggested students have significant concerns in addressing certain aspects of LGBT health, specifically with transgender patients. Insights: Medical students thought LGBT-specific curricula could be improved, consistent with the findings from a survey of deans of medical education. They felt comfortable, but not fully prepared, to care for LGBT patients. Increasing curricular coverage of LGBT-related topics is indicated with emphasis on exposing students to LGBT patients in clinical settings.
View details for DOI 10.1080/10401334.2015.1044656
View details for PubMedID 26158327
Sexual and Gender Minority Identity Disclosure During Undergraduate Medical Education: "In the Closet" in Medical School
2015; 90 (5): 634-644
To assess identity disclosure among sexual and gender minority (SGM) students pursuing undergraduate medical training in the United States and Canada.From 2009 to 2010, a survey was made available to all medical students enrolled in the 176 MD- and DO-granting medical schools in the United States and Canada. Respondents were asked about their sexual and gender identity, whether they were "out" (i.e., had publicly disclosed their identity), and, if they were not, their reasons for concealing their identity. The authors used a mixed-methods approach and analyzed quantitative and qualitative survey data.Of 5,812 completed responses (of 101,473 eligible respondents; response rate 5.7%), 920 (15.8%) students from 152 (of 176; 86.4%) institutions identified as SGMs. Of the 912 sexual minorities, 269 (29.5%) concealed their sexual identity in medical school. Factors associated with sexual identity concealment included sexual minority identity other than lesbian or gay, male gender, East Asian race, and medical school enrollment in the South or Central regions of North America. The most common reasons for concealing one's sexual identity were "nobody's business" (165/269; 61.3%), fear of discrimination in medical school (117/269; 43.5%), and social or cultural norms (110/269; 40.9%). Of the 35 gender minorities, 21 (60.0%) concealed their gender identity, citing fear of discrimination in medical school (9/21; 42.9%) and lack of support (9/21; 42.9%).SGM students continue to conceal their identity during undergraduate medical training. Medical institutions should adopt targeted policies and programs to better support these individuals.
View details for DOI 10.1097/ACM.0000000000000657
View details for Web of Science ID 000353879700027
View details for PubMedID 25692563
What makes a top research medical school? A call for a new model to evaluate academic physicians and medical school performance.
2015; 90 (5): 603-608
Since the publication of the Flexner Report in 1910, the medical education enterprise has undergone many changes to ensure that medical schools meet a minimum standard for the curricula and clinical training they offer students. Although the efforts of the licensing and accrediting bodies have raised the quality of medical education, the educational processes that produce the physicians who provide the best patient care and conduct the best biomedical research have not been identified. Comparative analyses are powerful tools to understand the differences between institutions, but they are challenging to carry out. As a result, the analysis performed by U.S. News & World Report (USN&WR) has become the default tool to compare U.S. medical schools. Medical educators must explore more rigorous and equitable approaches to analyze and understand the performance of medical schools. In particular, a better understanding and more thorough evaluation of the most successful institutions in producing academic physicians with biomedical research careers are needed. In this Perspective, the authors present a new model to evaluate medical schools' production of academic physicians who advance medicine through basic, clinical, translational, and implementation science research. This model is based on relevant and accessible objective criteria that should replace the subjective criteria used in the current USN&WR rankings system. By fostering a national discussion about the most meaningful criteria that should be measured and reported, the authors hope to increase transparency of assessment standards and ultimately improve educational quality.
View details for DOI 10.1097/ACM.0000000000000646
View details for PubMedID 25607941
From Patients to Providers: Changing the Culture in Medicine Toward Sexual and Gender Minorities
2015; 90 (5): 574-580
Equality for sexual and gender minorities (SGMs)-including members of the lesbian, gay, bisexual, and transgender communities-has become an integral part of the national conversation in the United States. Although SGM civil rights have expanded in recent years, these populations continue to experience unique health and health care disparities, including poor access to health care, stigmatization, and discrimination. SGM trainees and physicians also face challenges, including derogatory comments, humiliation, harassment, fear of being ostracized, and residency/job placement discrimination. These inequities are not mutually exclusive to either patients or providers; instead, they are intertwined parts of a persistent, negative culture in medicine toward SGM individuals.In this Perspective, the authors argue that SGM physicians must lead this charge for equality by fostering diversity and inclusion in medicine. They posit that academic medicine can accomplish this goal by (1) modernizing research on the physician workforce, (2) implementing new policies and programs to promote safe and supportive training and practice environments, and (3) developing recruitment practices to ensure a diverse, competent physician workforce that includes SGM individuals.These efforts will have an immediate impact by identifying and empowering new leaders to address SGM health care reform, creating diverse training environments that promote cultural competency, and aligning medicine with other professional fields (e.g., business, law) that already are working toward these goals. By tackling the inequities that SGM providers face, academic medicine can normalize sexual and gender identity disclosure and promote a welcoming, supportive environment for everyone in medicine, including patients.
View details for DOI 10.1097/ACM.0000000000000656
View details for Web of Science ID 000353879700015
View details for PubMedID 25650825
- Increasing incidence of acute kidney injury: also a problem in pregnancy? American journal of kidney diseases : the official journal of the National Kidney Foundation 2015; 65 (5): 650–54
First Annual LGBT Health Workforce Conference: Empowering Our Health Workforce to Better Serve LGBT Communities.
2014; 1 (1): 62–65
The Institute of Medicine has identified significant health disparities and barriers to health care experienced by lesbian, gay, bisexual, and transgender (LGBT) populations. By lowering financial barriers to care, recent legislation and judicial decisions have created a remarkable opportunity for reducing disparities by making health care available to those who previously lacked access. However, the current health-care workforce lacks sufficient training on LGBT-specific health-care issues and delivery of culturally competent care to sexual orientation and gender identity minorities. The LGBT Healthcare Workforce Conference was developed to provide a yearly forum to address these deficiencies through the sharing of best practices in LGBT health-care delivery, creating LGBT-inclusive institutional environments, supporting LGBT personal and professional development, and peer-to-peer mentoring, with an emphasis on students and early career professionals in the health-care fields. This report summarizes the findings of the first annual LGBT Health Workforce Conference.
View details for PubMedID 26789511
Randomized Clinical Trial to Evaluate the Efficacy and Safety of Valganciclovir in a Subset of Patients With Chronic Fatigue Syndrome
JOURNAL OF MEDICAL VIROLOGY
2013; 85 (12): 2101-2109
There is no known treatment for chronic fatigue syndrome (CFS). Little is known about its pathogenesis. Human herpesvirus 6 (HHV-6) and Epstein-Barr virus (EBV) have been proposed as infectious triggers. Thirty CFS patients with elevated IgG antibody titers against HHV-6 and EBV were randomized 2:1 to receive valganciclovir (VGCV) or placebo for 6 months in a double-blind, placebo-controlled trial. Clinical endpoints aimed at measuring physical and mental fatigue included the Multidimensional Fatigue Inventory (MFI-20) and Fatigue Severity Scale (FSS) scores, self-reported cognitive function, and physician-determined responder status. Biological endpoints included monocyte and neutrophil counts and cytokine levels. VGCV patients experienced a greater improvement by MFI-20 at 9 months from baseline compared to placebo patients but this difference was not statistically significant. However, statistically significant differences in trajectories between groups were observed in MFI-20 mental fatigue subscore (P = 0.039), FSS score (P = 0.006), and cognitive function (P = 0.025). VGCV patients experienced these improvements within the first 3 months and maintained that benefit over the remaining 9 months. Patients in the VGCV arm were 7.4 times more likely to be classified as responders (P = 0.029). In the VGCV arm, monocyte counts decreased (P < 0.001), neutrophil counts increased (P = 0.037) and cytokines were more likely to evolve towards a Th1-profile (P < 0.001). Viral IgG antibody titers did not differ between arms. VGCV may have clinical benefit in a subset of CFS patients independent of placebo effect, possibly mediated by immunomodulation and/or antiviral effect. Further investigation with longer treatment duration and a larger sample size is warranted.
View details for DOI 10.1002/jmv.23713
View details for PubMedID 23959519
Prioritizing health disparities in medical education to improve care.
Annals of the New York Academy of Sciences
2013; 1287: 17–30
Despite yearly advances in life-saving and preventive medicine, as well as strategic approaches by governmental and social agencies and groups, significant disparities remain in health, health quality, and access to health care within the United States. The determinants of these disparities include baseline health status, race and ethnicity, culture, gender identity and expression, socioeconomic status, region or geography, sexual orientation, and age. In order to renew the commitment of the medical community to address health disparities, particularly at the medical school level, we must remind ourselves of the roles of doctors and medical schools as the gatekeepers and the value setters for medicine. Within those roles are responsibilities toward the social mission of working to eliminate health disparities. This effort will require partnerships with communities as well as with academic centers to actively develop and to implement diversity and inclusion strategies. Besides improving the diversity of trainees in the pipeline, access to health care can be improved, and awareness can be raised regarding population-based health inequalities.
View details for DOI 10.1111/nyas.12117
View details for PubMedID 23659676
View details for PubMedCentralID PMC4598316
Small molecule screen reveals regulation of survival motor neuron protein abundance by Ras proteins.
ACS chemical biology
2013; 8 (5): 914–22
Small molecule modulators of protein activity have proven invaluable in the study of protein function and regulation. While inhibitors of protein activity are relatively common, small molecules that can increase protein abundance are rare. Small molecule protein upregulators with targeted activities would be of value in the study of the mechanisms underlying loss-of-function diseases. We developed a high-throughput screening approach to identify small molecule upregulators of the Survival of Motor Neuron protein (SMN), whose decreased levels cause the neurodegenerative disease spinal muscular atrophy (SMA). We screened 69,189 compounds for SMN upregulators and performed mechanistic studies on the most active compound, a bromobenzophenone analogue designated cuspin-1. Mechanistic studies of cuspin-1 revealed that increasing Ras signaling upregulates SMN protein abundance via an increase in translation rate. These findings suggest that controlled modulation of the Ras signaling pathway may benefit patients with SMA.
View details for DOI 10.1021/cb300374h
View details for PubMedID 23496866
View details for PubMedCentralID PMC3665055
Summit on medical school education in sexual health: report of an expert consultation.
The journal of sexual medicine
2013; 10 (4): 924–38
INTRODUCTION.: Medical education in sexual health in the United States and Canada is lacking. Medical students and practicing physicians report being underprepared to adequately address their patients' sexual health needs. Recent studies have shown little instruction on sexual health in medical schools and little consensus around the type of material medical students should learn. To address and manage sexual health issues, medical students need improved education and training. AIM.: This meeting report aims to present findings from a summit on the current state of medical school education in sexual health and provides recommended strategies to better train physicians to address sexual health. METHODS.: To catalyze improvements in sexual health education in medical schools, the summit brought together key U.S. and Canadian medical school educators, sexual health educators, and other experts. Attendees reviewed and discussed relevant data and potential recommendations in plenary sessions and then developed key recommendations in smaller breakout groups. RESULTS.: Findings presented at the summit demonstrate that the United States and Canada have high rates of poor sexual health outcomes and that sexual health education in medical schools is variable and in some settings diminished. To address these issues, government, professional, and student organizations are working on efforts to promote sexual health. Several universities already have sexual health curricula in place. Evaluation mechanisms will be essential for developing and refining sexual health education. CONCLUSIONS.: To be effective, sexual health curricula need to be integrated longitudinally throughout medical training. Identifying faculty champions and supporting student efforts are strategies to increase sexual health education. Sexual health requires a multidisciplinary approach, and cross-sector interaction between various public and private entities can help facilitate change. Areas important to address include: core content and placement in the curriculum; interprofessional education and training for integrated care; evaluation mechanisms; faculty development and cooperative strategies. Initial recommendations were drafted for each.
View details for DOI 10.1111/jsm.12142
View details for PubMedID 23551542
Response to valganciclovir in chronic fatigue syndrome patients with human herpesvirus 6 and Epstein-Barr virus IgG antibody titers
JOURNAL OF MEDICAL VIROLOGY
2012; 84 (12): 1967-1974
Valganciclovir has been reported to improve physical and cognitive symptoms in patients with chronic fatigue syndrome (CFS) with elevated human herpesvirus 6 (HHV-6) and Epstein-Barr virus (EBV) IgG antibody titers. This study investigated whether antibody titers against HHV-6 and EBV were associated with clinical response to valganciclovir in a subset of CFS patients. An uncontrolled, unblinded retrospective chart review was performed on 61 CFS patients treated with 900 mg valganciclovir daily (55 of whom took an induction dose of 1,800 mg daily for the first 3 weeks). Antibody titers were considered high if HHV-6 IgG ≥ 1:320, EBV viral capsid antigen (VCA) IgG ≥ 1:640, and EBV early antigen (EA) IgG ≥ 1:160. Patients self-rated physical and cognitive functioning as a percentage of their functioning prior to illness. Patients were categorized as responders if they experienced at least 30% improvement in physical and/or cognitive functioning. Thirty-two patients (52%) were categorized as responders. Among these, 19 patients (59%) responded physically and 26 patients (81%) responded cognitively. Baseline antibody titers showed no significant association with response. After treatment, the average change in physical and cognitive functioning levels for all patients was +19% and +23%, respectively (P < 0.0001). Longer treatment was associated with improved response (P = 0.0002). No significant difference was found between responders and non-responders among other variables analyzed. Valganciclovir treatment, independent of the baseline antibody titers, was associated with self-rated improvement in physical and cognitive functioning for CFS patients who had positive HHV-6 and/or EBV serologies. Longer valganciclovir treatment correlated with an improved response.
View details for DOI 10.1002/jmv.23411
View details for PubMedID 23080504
Antiviral therapy of two patients with chromosomally-integrated human herpesvirus-6A presenting with cognitive dysfunction
JOURNAL OF CLINICAL VIROLOGY
2012; 55 (1): 40-45
Human herpesvirus 6 (HHV-6) is a neurotropic virus implicated in central nervous system (CNS) dysfunction, multiple sclerosis, seizures and encephalitis. Inherited or "chromosomally integrated" HHV-6 (CIHHV-6) is a condition characterized by high DNA loads and germ line transmission of HHV-6 genomes, which are integrated into the telomere.We previously reported that integrated HHV-6 can be reactivated by trichostatin A in vitro. Therefore, we hypothesized that a broad array of neurological symptoms of CIHHV-6 patients may respond to antiviral drug treatment.The patients have been treated with antiviral drugs and monitored for viral load, late mRNA, and clinical improvement.Antiviral therapy of two CIHHV patients resulted in successful clinical resolution. However, both patients relapsed on multiple occasions within 4-6 months of cessation of antiviral therapy.Successful antiviral drug treatment suggests that clinical symptoms of these patients were due to symptomatic reactivation of CIHHV-6. Alternatively, some CIHHV-6 patients may have a reduced resistance to community-acquired HHV-6 strains due to tolerance leading to persistent infections.
View details for DOI 10.1016/j.jcv.2012.05.016
View details for PubMedID 22770640
Lesbian, Gay, Bisexual, and Transgender-Related Content in Undergraduate Medical Education
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
2011; 306 (9): 971-977
Lesbian, gay, bisexual, and transgender (LGBT) individuals experience health and health care disparities and have specific health care needs. Medical education organizations have called for LGBT-sensitive training, but how and to what extent schools educate students to deliver comprehensive LGBT patient care is unknown.To characterize LGBT-related medical curricula and associated curricular development practices and to determine deans' assessments of their institutions' LGBT-related curricular content.Deans of medical education (or equivalent) at 176 allopathic or osteopathic medical schools in Canada and the United States were surveyed to complete a 13-question, Web-based questionnaire between May 2009 and March 2010.Reported hours of LGBT-related curricular content.Of 176 schools, 150 (85.2%) responded, and 132 (75.0%) fully completed the questionnaire. The median reported time dedicated to teaching LGBT-related content in the entire curriculum was 5 hours (interquartile range [IQR], 3-8 hours). Of the 132 respondents, 9 (6.8%; 95% CI, 2.5%-11.1%) reported 0 hours taught during preclinical years and 44 (33.3%; 95% CI, 25.3%-41.4%) reported 0 hours during clinical years. Median US allopathic clinical hours were significantly different from US osteopathic clinical hours (2 hours [IQR, 0-4 hours] vs 0 hours [IQR, 0-2 hours]; P = .008). Although 128 of the schools (97.0%; 95% CI, 94.0%-99.9%) taught students to ask patients if they "have sex with men, women, or both" when obtaining a sexual history, the reported teaching frequency of 16 LGBT-specific topic areas in the required curriculum was lower: at least 8 topics at 83 schools (62.9%; 95% CI, 54.6%-71.1%) and all topics at 11 schools (8.3%; 95% CI, 3.6%-13.0%). The institutions' LGBT content was rated as "fair" at 58 schools (43.9%; 95% CI, 35.5%-52.4%). Suggested successful strategies to increase content included curricular material focusing on LGBT-related health and health disparities at 77 schools (58.3%, 95% CI, 49.9%-66.7%) and faculty willing and able to teach LGBT-related curricular content at 67 schools (50.8%, 95% CI, 42.2%-59.3%).The median reported time dedicated to LGBT-related topics in 2009-2010 was small across US and Canadian medical schools, but the quantity, content covered, and perceived quality of instruction varied substantially.
View details for Web of Science ID 000294542600015
View details for PubMedID 21900137
- Prioritizing health disparities in medical education to improve care. Academic medicine : journal of the Association of American Medical Colleges 2011; 86 (11): 1343
Hyperparathyroidism with hypercalcaemia in chronic kidney disease: primary or tertiary?
2010; 3 (4): 366-371
Objective . This study aims to highlight the challenges in the diagnosis of hyperparathyroidism (HPT) in patients with advanced chronic kidney disease (CKD). Methods . In this report, we describe a middle-aged Filipino gentleman with underlying CKD who presented with intractable nausea, vomiting, severe and medically refractory hypercalcaemia and parathyroid hormone (PTH) concentrations in excess of 2400 pg/mL. The underlying pathophysiology as well as the aetiologies and current relevant literature are discussed. We also suggest an appropriate diagnostic approach to identify and promptly treat patients with CKD, HPT and hypercalcaemia. Results . Evaluation confirmed the presence of a large parathyroid adenoma; HPT and hypercalcaemia resolved rapidly following resection. Conclusion . This case report is remarkable for its severe hypercalcaemia requiring haemodialysis, large adenoma size, acute-on-chronic kidney injury and markedly elevated PTH concentration in association with primary HPT in CKD.
View details for DOI 10.1093/ndtplus/sfq077
View details for PubMedID 25949433
Spinal muscular atrophy: advances in research and consensus on care of patients.
Current treatment options in neurology
2008; 10 (6): 420-428
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of spinal cord motor neurons and muscular atrophy. Advances in recent research have led to understanding of the molecular genetics of SMA. Therapeutic strategies have been developed according to the unique genomic structure of the SMN genes. Three groups of compounds have been identified as therapeutic candidates. One group was identified before the molecular genetics of SMA was understood, chosen on the basis of their effectiveness in similar neurologic disorders. The second group was identified based on their ability to modify SMN2 gene expression. Several of these agents are currently in clinical trials. A third group, identified by large-scale drug screening, is still under preclinical investigation. In addition, other advances in medical technology have led to the publication of a consensus statement regarding the care of SMA patients.
View details for PubMedID 18990310
Spinal muscular atrophy
2008; 371 (9630): 2120-2133
Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. It is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion, or mutation. Although no medical treatment is available, investigations have elucidated possible mechanisms underlying the molecular pathogenesis of the disease. Treatment strategies have been developed to use the unique genomic structure of the SMN1 gene region. Several candidate treatment agents have been identified and are in various stages of development. These and other advances in medical technology have changed the standard of care for patients with spinal muscular atrophy. In this Seminar, we provide a comprehensive review that integrates clinical manifestations, molecular pathogenesis, diagnostic strategy, therapeutic development, and evidence from clinical trials.
View details for Web of Science ID 000256932200032
View details for PubMedID 18572081
Chemical genetics and orphan genetic diseases.
Chemistry & biology
2005; 12 (10): 1063–73
Many orphan diseases have been identified that individually affect small numbers of patients but cumulatively affect approximately 6%-10% of the European and United States populations. Human genetics has become increasingly effective at identifying genetic defects underlying such orphan genetic diseases, but little progress has been made toward understanding the causal molecular pathologies and creating targeted therapies. Chemical genetics, positioned at the interface of chemistry and genetics, can be used for elucidation of molecular mechanisms underlying diseases and for drug discovery. This review discusses recent advances in chemical genetics and how small-molecule tools can be used to study and ultimately treat orphan genetic diseases. We focus here on a case study involving spinal muscular atrophy, a pediatric neurodegenerative disease caused by homozygous deletion of the SMN1 (survival of motor neuron 1) gene.
View details for DOI 10.1016/j.chembiol.2005.09.005
View details for PubMedID 16242649
A flexible data analysis tool for chemical genetic screens.
Chemistry & biology
2004; 11 (11): 1495–1503
High-throughput assays generate immense quantities of data that require sophisticated data analysis tools. We have created a freely available software tool, SLIMS (Small Laboratory Information Management System), for chemical genetics which facilitates the collection and analysis of large-scale chemical screening data. Compound structures, physical locations, and raw data can be loaded into SLIMS. Raw data from high-throughput assays are normalized using flexible analysis protocols, and systematic spatial errors are automatically identified and corrected. Various computational analyses are performed on tested compounds, and dilution-series data are processed using standard or user-defined algorithms. Finally, published literature associated with active compounds is automatically retrieved from Medline and processed to yield potential mechanisms of actions. SLIMS provides a framework for analyzing high-throughput assay data both as a laboratory information management system and as a platform for experimental analysis.
View details for DOI 10.1016/j.chembiol.2004.08.026
View details for PubMedID 15556000
Indoprofen upregulates the survival motor neuron protein through a cyclooxygenase-independent mechanism.
Chemistry & biology
2004; 11 (11): 1489–93
Most patients with the pediatric neurodegenerative disease spinal muscular atrophy have a homozygous deletion of the survival motor neuron 1 (SMN1) gene, but retain one or more copies of the closely related SMN2 gene. The SMN2 gene encodes the same protein (SMN) but produces it at a low efficiency compared with the SMN1 gene. We performed a high-throughput screen of approximately 47,000 compounds to identify those that increase production of an SMN2-luciferase reporter protein, but not an SMN1-luciferase reporter protein. Indoprofen, a nonsteroidal anti-inflammatory drug (NSAID) and cyclooxygenase (COX) inhibitor, selectively increased SMN2-luciferase reporter protein and endogenous SMN protein and caused a 5-fold increase in the number of nuclear gems in fibroblasts from SMA patients. No other NSAIDs or COX inhibitors tested exhibited this activity.
View details for DOI 10.1016/j.chembiol.2004.08.024
View details for PubMedID 15555999
View details for PubMedCentralID PMC3160629