MaryAnn Campion

All Publications

• Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing. Clinical and translational science Russell, C., Campion, M., Grove, M. E., Matsuda, K., Klein, T. E., Ashley, E., Naik, H., Wheeler, M. T., Scott, S. A. 2024; 17 (3): e13737

  Abstract

  Pharmacogenomics has the potential to inform drug dosing and selection, reduce adverse events, and improve medication efficacy; however, provider knowledge of pharmacogenomic testing varies across provider types and specialties. Given that many actionable pharmacogenomic genes are implicated in cardiovascular medication response variability, this study aimed to evaluate cardiology providers' knowledge and attitudes on implementing clinical pharmacogenomic testing. Sixty-one providers responded to an online survey, including pharmacists (46%), physicians (31%), genetic counselors (15%), and nurses (8%). Most respondents (94%) reported previous genetics education; however, only 52% felt their genetics education prepared them to order a clinical pharmacogenomic test. In addition, most respondents (66%) were familiar with pharmacogenomics, with genetic counselors being most likely to be familiar (p < 0.001). Only 15% of respondents had previously ordered a clinical pharmacogenomic test and a total of 36% indicated they are likely to order a pharmacogenomic test in the future; however, the vast majority of respondents (89%) were interested in pharmacogenomic testing being incorporated into diagnostic cardiovascular genetic tests. Moreover, 84% of providers preferred pharmacogenomic panel testing compared to 16% who preferred single gene testing. Half of the providers reported being comfortable discussing pharmacogenomic results with their patients, but the majority (60%) expressed discomfort with the logistics of test ordering. Reported barriers to implementation included uncertainty about the clinical utility and difficulty choosing an appropriate test. Taken together, cardiology providers have moderate familiarity with pharmacogenomics and limited experience with test ordering; however, they are interested in incorporating pharmacogenomics into diagnostic genetic tests and ordering pharmacogenomic panels.

  View details for DOI 10.1111/cts.13737

  View details for PubMedID 38421234

• Molecular Testing in Newborn Screening: VUS Burden Among True Positives and Secondary Reproductive Limitations via Expanded Carrier Screening Panels. Genetics in medicine : official journal of the American College of Medical Genetics Cook, S., Dunn, E., Kornish, J., Calderwood, L., Campion, M., Cusmano-Ozog, K. P., Tise, C. G. 2023: 101055

  Abstract

  PURPOSE: Expanded carrier screening (ECS) gene panels have several limitations including variable content, current knowledge of disease-causing variants, and differing reporting policies. This study evaluated if the disease-associated variants identified in affected neonates who screened positive by California newborn screening (NBS) for an inherited metabolic disorder (IMD) by tandem mass spectrometry (MS/MS) would likely be reported by ECS gene panels.METHODS: Retrospective review of neonates referred by the California Department of Public Health for a positive NBS by multianalyte MS/MS from 01/01/20 through 06/30/21.RESULTS: One hundred thirty-six neonates screened positive for ≥1 NBS MS/MS indication. Nineteen neonates (14%) were ultimately diagnosed with an IMD, all of whom had abnormal biochemical testing. Eighteen of the 19 underwent molecular testing; 10 (56%) neonates had ≥1 VUS, of whom nine were of non-White ancestry. ECS panels would have been negative for 56% (20/36) of parents with an affected neonate, 85% (17/20) of whom were of non-White ancestry.CONCLUSIONS: The number of VUS identified in this cohort highlights the need for more diversified variant databases. Due in part to the lack of diversity in currently sequenced populations, genomic sequencing cannot replace biochemical testing for the diagnosis of an IMD.

  View details for DOI 10.1016/j.gim.2023.101055

  View details for PubMedID 38146699

• A report of the AGCPD task force to evaluate associations between select admissions requirements, demographics, and performance on ABGC certification examination. Journal of genetic counseling Myers, M. F., Bergner, A., Conway, L., Duquette, D., Durst, A. L., Yashar, B. M., Zhang, X., Campion, M. 2021

  Abstract

  Graduation from a genetic counseling graduate program accredited by the Accreditation Council of Genetic Counseling and certification obtained by passing the American Board of Genetic Counseling (ABGC) certification examination are increasingly required to practice as a genetic counselor in the USA. Despite the ABGC certification examination serving as a gateway to the genetic counseling career, there have been no research studies to date that have examined what variables are associated with examination performance. Therefore, the Association of Genetic Counseling Program Directors established a Task Force to assess whether trainee demographics, Grade point average (GPA) and Graduate Record Exam (GRE) percentile scores are associated with passing the ABGC certification examination on the first attempt. We surveyed accredited genetic counseling graduate programs in North America and gathered demographic data, admissions variables, and certification examination outcome data for 1,494 trainees from 24 training programs, representing approximately 60.5% of matriculants between 2007 and 2016. Univariable analysis was performed to assess associations between admissions variables and categorical outcome (pass vs. fail) on the certification examination using Wilcoxon rank-sum or Fisher's exact test. Variables significantly associated with the categorical board outcome were then entered in a stepwise model selection procedure. In stepwise logistic regression, trainees with higher GPA (OR = 3.41; 95% CI = 1.99, 5.83), higher verbal (OR = 1.02; 95% CI = 1.01, 1.03) and quantitative (OR = 1.02; 95% CI = 1.01, 1.03) GRE scores, female trainees (OR = 2.95; 95% CI = 1.70, 5.12), and White trainees (OR 3.37; 95% CI = 2.14, 5.30) had higher odds of passing the certification examination on the first attempt. As programs move to a holistic approach to graduate admissions in order to improve access to the genetic counseling profession, our results may influence programs to provide additional preparation for the certification examination for all trainees. In addition, genetic counseling professional organizations should continue to work together to assess and eliminate outcome disparities in admissions, training, and certification processes.

  View details for DOI 10.1002/jgc4.1537

  View details for PubMedID 34855258

• Contributors to and consequences of burnout among clinical genetic counselors in the United States. Journal of genetic counseling Caleshu, C., Kim, H., Silver, J., Austin, J., Tibben, A., Campion, M. 2021

  Abstract

  Prior research has found that many genetic counselors (GCs) experience burnout. Studies of other clinicians have demonstrated that burnout can have significant detrimental consequences for clinicians, patients, and the healthcare system. We sought to explore the prevalence of, contributors to, and consequences of burnout among GCs. We performed a secondary data analysis of baseline data from Me-GC, a randomized controlled trial of meditation for GCs. We applied a systems model of burnout proposed by the National Academy of Medicine (NAM), which depicts burnout arising from a combination of contributors that include both work system and individual mediating factors, and then leading to consequences. Validated self-report scales were used to measure burnout and most contributors and consequences. Female and white GCs were over-represented in our sample. Over half (57.2%) of the 397 participants had Professional Fulfillment Index scores indicative of burnout. Multiple potential contributors were associated with burnout, consistent with its known multifactorial nature. Among work system factors, higher levels of burnout were associated with insufficient administrative support, lack of autonomy, and not feeling valued by non-GC colleagues. Individual mediating factors associated with greater burnout included higher levels of anxiety, depression, and stress. Participants with lower levels of burnout reported greater mindfulness, resilience, and use of professional self-care behaviors. Among variables categorized as consequences, higher levels of burnout were associated with lower levels of empathy, counseling alliance, and positive unconditional regard, as well as higher reactive distress, and a greater desire to reduce the amount of time spent on clinical care. Given the prevalence and potential consequences of burnout observed here, it is imperative that the field take steps to mitigate burnout risk.

  View details for DOI 10.1002/jgc4.1485

  View details for PubMedID 34318970

• Utility of a virtual counselor (VICKY) to collect family health histories among vulnerable patient populations: A randomized controlled trial. Patient education and counseling Wang, C., Paasche-Orlow, M. K., Bowen, D. J., Cabral, H., Winter, M. R., Norkunas Cunningham, T., Trevino-Talbot, M., Toledo, D. M., Cortes, D. E., Campion, M., Bickmore, T. 2021

  Abstract

  OBJECTIVES: This study is a randomized controlled trial comparing the efficacy of a virtual counselor (VICKY) to the My Family Health Portrait (MFHP) tool for collecting family health history (FHx).METHODS: A total of 279 participants were recruited from a large safety-net hospital and block randomized by health literacy to use one of the digital FHx tools, followed by a genetic counselor interview. A final sample of 273 participants were included for analyses of primary study aims pertaining to tool concordance, which assessed agreement between tool and genetic counselor.RESULTS: Tool completion differed significantly between tools (VICKY = 97%, MFHP = 51%; p < .0001). Concordance between tool and genetic counselor was significantly greater for participants randomized to VICKY compared to MFHP for ascertaining first- and second-degree relatives (ps<.0001), and most health conditions examined. There was significant interaction by health literacy, with greater differences in concordance observed between tools among those with limited literacy.CONCLUSIONS: A virtual counselor overcomes many of the literacy-related barriers to using traditional digital tools and highlights an approach that may be important to consider when collecting health histories from vulnerable populations.PRACTICE IMPLICATIONS: The usability of digital health history tools will have important implications for the quality of the data collected and its downstream clinical utility.

  View details for DOI 10.1016/j.pec.2021.02.034

  View details for PubMedID 33750594

• Cancer genetic counselors' experiences with transgender patients: A qualitative study JOURNAL OF GENETIC COUNSELING Zayhowski, K., Park, J., Boehmer, U., Gabriel, C., Berro, T., Campion, M. 2019; 28 (3): 641–53

  View details for DOI 10.1002/jgc4.1092

  View details for Web of Science ID 000472673100013

• Genomic education for the next generation of health-care providers. Genetics in medicine : official journal of the American College of Medical Genetics Campion, M., Goldgar, C., Hopkin, R. J., Prows, C. A., Dasgupta, S. 2019

  Abstract

  Historically, medical geneticists and genetic counselors have provided the majority of genetic services. Advances in technology, reduction in testing costs, and increased public awareness have led to a growing demand for genetic services in both clinical and direct-to-consumer spaces. Recent and anticipated changes in the workforce of genetic counselors and medical geneticists require a reexamination of the way we educate health-care providers and the means by which we provide access to genetic services. The time is ripe for rapid growth of genetic and genomic services, but to capitalize on these opportunities, we need to consider a variety of educational mechanisms to reach providers both within and beyond the traditional genetic counseling and medical genetics sectors, including nurses, physician assistants, and nongenetics physicians. This article summarizes the educational efforts underway in each of these professions.

  View details for DOI 10.1038/s41436-019-0548-4

  View details for PubMedID 31110330

• Cancer genetic counselors' experiences with transgender patients: A qualitative study. Journal of genetic counseling Zayhowski, K., Park, J., Boehmer, U., Gabriel, C., Berro, T., Campion, M. 2019

  Abstract

  It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender-related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Through inductive analysis, six themes emerged: (1) documentation systems are not inclusive or clear; (2) genetic counselors feel unprepared for these sessions; (3) gender affirming hormones impact risk assessment; (4) genetic testing affects gender affirming surgical decisions; (5) transgender patients present at younger ages to clinic; and (6) pathogenic variants allow for insurance coverage for gender affirming surgeries. This study's findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.

  View details for PubMedID 30720922

• Genetic counselors' attitudes toward and practice related to psychiatric genetic counseling. Journal of genetic counseling Booke, S. n., Austin, J. n., Calderwood, L. n., Campion, M. n. 2019

  Abstract

  Despite the high demand for psychiatric genetic counseling among people with psychiatric conditions (>90%), surveys show that genetic counselors rarely receive primary referrals for psychiatric cases. The purpose of this study was to further investigate potential barriers to the provision of psychiatric genetic counseling services, focusing specifically on the prevalence and impact of psychiatric stigmatization among genetic counselors. Board-certified, practicing genetic counselors were invited to participate in an anonymous survey via the National Society of Genetic Counselors. Survey measures included a validated psychiatric stigmatization scale (OMS-HC) and questions assaying genetic counselors' experiences with and opinions of psychiatric genetic counseling. Associations between psychiatric stigmatization and attitudes toward and practice related to psychiatric genetic counseling were computed using Pearson's correlation. The majority of respondents believed that psychiatric genetic counseling is of value to families (94%) and that it is indicated if there is a relevant personal or family history (90.3%), but only 44.6% reported providing this service. On average, respondents scored neutrally on psychiatric stigma scales; however, higher stigma levels were associated with less frequent psychiatric discussions (p = .05), less counselor comfort and perceived qualification (p = .003) and perceptions of having insufficient psychiatric genetic data (p < .02), resources (p < .02) and time (p < .03). This study suggests that the limits of psychiatric genetics research and unavailability of genetic testing lead many genetic counselors to doubt the utility of psychiatric genetic counseling. Should this mindset persist, without the intervention of psychiatric education and training, the field of genetic counseling risks continuing to inadequately serve a historically underserved population.

  View details for DOI 10.1002/jgc4.1176

  View details for PubMedID 31701601

• MA number not sure JK9 CHALLENGES TO USING WEB-BASED FAMILY HISTORY TOOLS AMONG VULNERABLE PATIENT POPULATIONS Wang, C., Bickmore, T., Paasche-Orlow, M., Cunningham, T., Cabral, H., Winter, M., Campion, M., Bowen, D. OXFORD UNIV PRESS INC. 2018: S146

  View details for Web of Science ID 000431185200339

• Genetic counselor training for the next generation: Where do we go from here? AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS Riconda, D., Grubs, R. E., Campion, M. W., Cragun, D. 2018; 178 (1): 38–45

  View details for PubMedID 29512933

• Experiences of Genetic Counselors Practicing in Rural Areas JOURNAL OF GENETIC COUNSELING Emmet, M., Stein, Q., Thorpe, E., Campion, M. 2018; 27 (1): 140–54

  Abstract

  In-person genetic counseling clinics in rural areas are likely to improve access to genetic counseling in underserved regions, but studies have not previously examined how these clinics function or described the experience of practicing in a rural setting. The present mixed-methods study explored the professional experiences of clinical genetic counselors who practice in rural areas, including the benefits and challenges of practicing in these settings and the counselors' motivations for doing so. The authors surveyed 20 genetic counselors who self-reported working in rural areas and conducted interviews with six individuals whose workplaces were confirmed as rural per RUCA code. Major obstacles to the provision of genetics services in rural areas included travel distance and low referral rates due to lack of awareness or skepticism. Facilitating factors included relying on resources such as professional networks and prioritizing outreach and education. Participants reported high professional satisfaction and were motivated to work in rural areas by personal experiences and qualities of the job such as being a generalist and having greater professional autonomy. These data demonstrate the feasibility of practicing in rural settings and suggest that in-person rural genetic counseling clinics may complement other strategies such as alternative service delivery models in increasing access for rural residents.

  View details for PubMedID 28831644

• Mid-career faculty development in academic medicine: How does it impact faculty and institutional vitality? The journal of faculty development Campion, M. W., Bhasin, R. M., Beaudette, D. J., Shann, M. H., Benjamin, E. J. 2016; 30 (3): 49-64

  Abstract

  Faculty vitality is integral to the advancement of higher education. Strengthening vitality is particularly important for mid-career faculty, who represent the largest and most dissatisfied segment. The demands of academic medicine appear to be another factor that may put faculty at risk of attrition. To address these issues, we initiated a ten-month mid-career faculty development program.A mixed-methods quasi-experimental design was used to evaluate the program's impact on faculty and institutional vitality. Pre/post surveys compared participants with a matched reference group. Quantitative data were augmented by interviews and focus groups with multiple stakeholders.At the program's conclusion, participants showed statistically significant gains in knowledge, skills, attitudes, and connectivity when compared to the referents.Given that mid-career faculty development in academic medicine has not been extensively studied, our evaluation provides a useful perspective to guide future initiatives aimed at enhancing the vitality and leadership capacity of mid-career faculty.

  View details for PubMedID 27942418

• Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders, How are Genetic Counselors Joining the Discussion? Journal of genetic counseling Field, T., Brewster, S. J., Towne, M., Campion, M. W. 2016; 25 (4): 708-19

  Abstract

  Traditionally, the biotechnology and pharmaceutical industry (BPI) has focused drug development at the mass-market level targeting common medical issues. However, a recent trend is the development of therapies for orphan or rare disorders, including many genetic disorders. Developing treatments for genetic disorders requires an understanding of the needs of the community and translating genomic information to clinical and non-clinical audiences. The core skills of genetic counselors (GCs) include a deep knowledge of genetics and ability to communicate complex information to a broad audience, making GCs a choice fit for this shift in drug development. To date there is limited data defining the roles GCs hold within this industry. This exploratory study aimed to define the roles and motivation of GCs working in BPI, assess job satisfaction, and identify translatable skills and current gaps in GC training programs. The authors surveyed 26 GCs working in BPI in the United States; 79 % work for companies focused on rare disorders. GC positions in BPI are growing, with 57 % of respondents being the first GC in their role. GCs in BPI continue to utilize core genetic counseling competencies, though 72 % felt their training did not fully prepare them for BPI. These data suggest opportunities for exposure to BPI in GC training to better prepare future generations of GCs for these career opportunities. GC satisfaction was high in BPI, notably in areas traditionally reported as less satisfying on the National Society for Genetic Counselors Professional Status Survey: salary and advancement opportunities. BPI's growing interest in rare disorders represents a career opportunity for GCs, addressing both historic areas of dissatisfaction for GCs and BPI's genomic communication needs.

  View details for DOI 10.1007/s10897-016-9946-9

  View details for PubMedID 27017827

• Confirmed versus suspected: The social significance of a genetic or non-genetic diagnosis of mitochondrial disease. Mitochondrion Krieg, E., Calderwood, L., Campion, M., Krepkovich, K. E. 2016; 28: 60-6

  Abstract

  This study assessed attitudes and beliefs regarding the importance of a genetic versus non-genetic diagnosis within the mitochondrial disease community. Survey respondents were categorized into two groups - those with a genetic diagnosis, and those with a non-genetic diagnosis of mitochondrial disease. We found that while both groups perceive problems with the support available to adult mitochondrial disease patients, the non-genetic group experiences less medical and social support due to lack of a definitive diagnosis. Understanding the efficacy of existing resources for mitochondrial disease sub-groups will allow for the development or improvement of resources designed to meet patient needs.

  View details for DOI 10.1016/j.mito.2016.03.008

  View details for PubMedID 27017995

• Acceptability and feasibility of a virtual counselor (VICKY) to collect family health histories GENETICS IN MEDICINE Wang, C., Bickmore, T., Bowen, D. J., Norkunas, T., Campion, M., Cabral, H., Winter, M., Paasche-Orlow, M. 2015; 17 (10): 822-830

  Abstract

  To overcome literacy-related barriers in the collection of electronic family health histories, we developed an animated Virtual Counselor for Knowing your Family History, or VICKY. This study examined the acceptability and accuracy of using VICKY to collect family histories from underserved patients as compared with My Family Health Portrait (MFHP).Participants were recruited from a patient registry at a safety net hospital and randomized to use either VICKY or MFHP. Accuracy was determined by comparing tool-collected histories with those obtained by a genetic counselor.A total of 70 participants completed this study. Participants rated VICKY as easy to use (91%) and easy to follow (92%), would recommend VICKY to others (83%), and were highly satisfied (77%). VICKY identified 86% of first-degree relatives and 42% of second-degree relatives; combined accuracy was 55%. As compared with MFHP, VICKY identified a greater number of health conditions overall (49% with VICKY vs. 31% with MFHP; incidence rate ratio (IRR): 1.59; 95% confidence interval (95% CI): 1.13-2.25; P = 0.008), in particular, hypertension (47 vs. 15%; IRR: 3.18; 95% CI: 1.66-6.10; P = 0.001) and type 2 diabetes (54 vs. 22%; IRR: 2.47; 95% CI: 1.33-4.60; P = 0.004).These results demonstrate that technological support for documenting family history risks can be highly accepted, feasible, and effective.

  View details for DOI 10.1038/gim.2014.198

  View details for Web of Science ID 000362441900011

  View details for PubMedID 25590980

• NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy JOURNAL OF GENETIC COUNSELING Wilson, K. L., Czerwinski, J. L., Hoskovec, J. M., Noblin, S. J., Sullivan, C. M., Harbison, A., Campion, M. W., Devary, K., Devers, P., Singletary, C. N. 2013; 22 (1): 4-15

  Abstract

  The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non-invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient's entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.

  View details for DOI 10.1007/s10897-012-9545-3

  View details for Web of Science ID 000314028900002

  View details for PubMedID 23179172

• Zen and the Art of Program Development JOURNAL OF GENETIC COUNSELING Campion, M. 2012; 21 (2): 179-180

  View details for DOI 10.1007/s10897-011-9440-3

  View details for Web of Science ID 000303890000008

  View details for PubMedID 22127474

• Transition to the Clinical Doctorate: Attitudes of the Genetic Counseling Training Program Directors in North America JOURNAL OF GENETIC COUNSELING Stuenkel, A. J., Campion, M., Allain, D., Hampel, H. 2012; 21 (1): 136-149

  Abstract

  In North America, genetic counseling is an allied health profession where entry level practitioners currently must hold a master's degree earned from a graduate program accredited by the American Board of Genetic Counseling. This is one of many health care professions that could transition to an entry level clinical doctorate degree. This study explored the attitudes of genetic counseling training program directors toward such a transition. Thirty-one North American program directors were invited to complete an online survey and a follow-up telephone interview. Twenty-one program directors completed the survey and ten directors also completed a follow up phone interview. There was disagreement among the respondents on the issue of transitioning to a clinical doctorate degree (nine in favor, six against and six undecided). Respondents disagreed about whether the transition would lead to higher salaries (six yes, eight no, and seven unsure) or increased professional recognition (eight yes, eight no, and four unsure). Approximately half (n = 10) of directors were not sure if the transition to a clinical doctorate would help or hurt minority recruitment; six thought it would help and four thought it would hurt. However, the majority (n = 13) thought a clinical doctorate would help genetic counselors to obtain faculty positions. If the field transitions to a clinical doctorate, 11 of the directors thought their program would convert, seven were unsure and one thought their program would shut down. Themes identified in interview data included 1) implications for the profession 2) institution-specific considerations and 3) perception of the unknown. Opinions are quite varied at this time regarding the possible transition to the clinical doctorate among genetic counseling training program directors.

  View details for DOI 10.1007/s10897-011-9407-4

  View details for Web of Science ID 000303889000017

  View details for PubMedID 21892706