Sophia Adelson

All Publications

• Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genetics in medicine : official journal of the American College of Medical Genetics Minten, T., Bick, S., Adelson, S., Gehlenborg, N., Amendola, L. M., Boemer, F., Coffey, A. J., Encina, N., Ferlini, A., Kirschner, J., Russell, B. E., Servais, L., Sund, K. L., Taft, R. J., Tsipouras, P., Zouk, H., ICoNS Gene List Contributors, Bick, D., International Consortium on Newborn Sequencing (ICoNS), Green, R. C., Gold, N. B., Zygmunt, A., Ververi, A., Siu, C., Ponzi, E., Bertini, E., Xinwen, H., King, J., Kassahn, K., Koutsogianni, M., Valente, M. L., Pelo, M. J., Gentile, M., Orsini, P., Ficarella, R., Sansen, S., Rui, X., Zhengyan, Z., Goldenberg, A., Satija, A., Lundquist, A., Ferlini, A., Wiedemann, A., Tuff-Lacey, A., Al-Maraghi, A., Pichini, A., Akil, A. A., Brower, A., Gaviglio, A., Ponte, A., Oza, A., Posch, A., Barry, A., Rohrwasser, A., Malhotra, A., Lewis, A., Wedell, A., Duintjer, A., Grueters, A., Novelli, A., Bhatatcharjee, A., Nusair, A., Bitton, A., Stray-Pedersen, A., Thurm, A., Harmant, A., Hernan, B., Lee, B., Zettler, B., Boyd, B., Chung, B., Kirmse, B., Greenstein, B., Bennetts, B., Webb, B., Duz, B., Bupp, C., Level, C., Cameron, C., Siu, C., Philstrom, C., Goldman, C., Lewis, C., Hobbs, C., Schaaf, C., Greene, C., Leckie, C., Wu, C., Kingsley, C., Vacher, C., Powell, C., Kasperaviciute, D., Gottlieb, D., Uribe, D., Niu, D., Bick, D., Eckstein, D., Godler, D., Ledbetter, D., Ansel, D., Khangsar, D., Carli, D., Thanos, D., Pichard, D., Bailey, D., Bernstein, D., Paul Daniel, E. J., Vengoechea, E., Krupoderova, E., Voorhoeve, E., Agolini, E., Davoine, E., Lecommandeur, E., Drake, E., Van Steijvoort, E., Cole, F. S., Ulph, F., Alkuraya, F., Boemer, F., Gandhi, G. D., Brown, G., Bowley, G., Sahyoun, G., Charalambidou, G., Matthijs, G., Jin, G., Gumus, G., Smith, H., Etheredge, H., Turner, H., Cope, H., Brennenstuhl, H., Peay, H., Pickering, H., Kander, I., Holm, I., Rtskhiladze, I., Buchanan, J., Galarza-Cornejo, J., Ojodu, J., Schleit, J., Giordano, J., Merritt, J., Chance, J., Ziff, J., Berg, J., Balciuniene, J., Gonzalez de Aledo-Castillo, J. M., Dewulf, J., King, J., Garcia-Villoria, J., Yeo, J., O'Sullivan, J., Kassahn, K., Alex, K., Ellsworth, K., Mosiewicz, K., MacDuffie, K., Langley, K., GoldenGrant, K., Danielsen, K. E., Paleologos, K., Broomberg, K., Chan, K., Hagman, K., Kalbfleisch, K., Irvine, K., Hall, K., Van Den Bogaert, K., Sund, K., Milko, L., Capacchione, L., Scully, L., Faivre, L., Servais, L., Horwitz, L., Rottensten, L., Kauko, L., Protopsaltis, L., Henneman, L., Downie, L., Marcelis, L., Diller, L., King, L. S., Gardner, L., Metherell, L., St George, L., Kaplun, L., Hegde, M., Siitonen, M., Bresnahan, M., Ponikowska, M., Iascone, M., Martinez-Fresno, M., Raia, M., Dolle, M., Vu, M., Aujla, M., Ellinwood, M., Pelo, M., Gentile, M., Longoni, M., To, M., Clarke, M., Baker, M., Berenger, M., Wasserstein, M., Wright, M., Nyegaard, M., Gelb, M., Watson, M., Zuccolo, M., Pirreca, M., Niemela, M., van der Burg, M., Ferrie, M., Alshehri, M., Sachedina, N., Yin-Hsiu Chien, N., Mikkelsen, N. B., Bonhomme, N., Sondheimer, N., Encina, N., Kelly, N., Miller, N., Shah, N., Armstrong, N., Gold, N., Ceballo, O. C., Dixit, P., Lee, P., Orsini, P., Tafas, P., Kruszka, P., Rollier, P., Furu, P., Tsipouras, P., Twiss, P., Brooks, P. J., Teekakirikul, P., Klein, R., Badji, R. M., Heiner-Fokkema, R., Reimers, R., Zimmerman, R., Parad, R., Scott, R., Kaukonen, R., Green, R., Steiner, R., Melbardis, R., Hayeems, R., Heald, R., Liu, R., Hartmanis, S., Elsea, S., Norris, S., Grosse, S., Lunke, S., Yusuff, S., Morgan, S., Singh, S., Adelson, S., Seeloff, S., Koelker, S., Coury, S., Kingsmore, S., Brenner, S., Bhatt, S., Nicklen, S., Clasper, S., Drury, S., Dangouloff, T., Finkel, T., Brewster, T., Minten, T., Westover, T., Urv, T., Defay, T., Zemojtel, T., Cox, T., Bishop, T., Jensen, U. G., Stoltze, U., Mutze, U., Chung, W., Chen, W., Gao, Y., Quevedo, Y., Veloudi, Y., Kousa, Y., Chen, Y., Hu, Z., Stark, Z. 2025; 27 (7): 101443

  Abstract

  PURPOSE: Over 30 international studies are exploring newborn sequencing (NBSeq) to expand the range of genetic disorders included in newborn screening. Substantial variability in gene selection across programs exists, highlighting the need for a systematic approach to prioritize genes.METHODS: We assembled a data set comprising 25 characteristics about each of the 4390 genes included in 27 NBSeq programs. We used regression analysis to identify several predictors of inclusion and developed a machine learning model to rank genes for public health consideration.RESULTS: Among 27 NBSeq programs, the number of genes analyzed ranged from 134 to 4299, with only 74 (1.7%) genes included by over 80% of programs. The most significant associations with gene inclusion across programs were presence on the US Recommended Uniform Screening Panel (inclusion increase of 74.7%, CI: 71.0%-78.4%), robust evidence on the natural history (29.5%, CI: 24.6%-34.4%), and treatment efficacy (17.0%, CI: 12.3%-21.7%) of the associated genetic disease. A boosted trees machine learning model using 13 predictors achieved high accuracy in predicting gene inclusion across programs (area under the curve = 0.915, R2 = 84%).CONCLUSION: The machine learning model developed here provides a ranked list of genes that can adapt to emerging evidence and regional needs, enabling more consistent and informed gene selection in NBSeq initiatives.

  View details for DOI 10.1016/j.gim.2025.101443

  View details for PubMedID 40357684

• Advancing precision care in pregnancy through a treatable fetal findings list. American journal of human genetics Cohen, J. L., Duyzend, M., Adelson, S. M., Yeo, J., Fleming, M., Ganetzky, R., Hale, R., Mitchell, D. M., Morton, S. U., Reimers, R., Roberts, A., Strong, A., Tan, W., Thiagarajah, J. R., Walker, M. A., Green, R. C., Gold, N. B. 2025

  Abstract

  The use of genomic sequencing (GS) for prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal GS also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phenotype but may be relevant to fetal and newborn health. There are currently no guidelines for reporting incidental findings from fetal GS. In the United States, GS for adults and children is recommended to include a list of "secondary findings" genes (ACMG SF v.3.2) that are associated with disorders for which surveillance or treatment can reduce morbidity and mortality. The genes on ACMG SF v.3.2 predominantly cause adult-onset disorders. Importantly, many genetic disorders with fetal and infantile onset are treatable as well. A proposed solution is to create a "treatable fetal findings list," which can be offered to pregnant individuals undergoing fetal GS or, eventually, as a standalone cell-free fetal DNA screening test. In this integrative review, we propose criteria for a treatable fetal findings list, then identify genetic disorders with clinically available or emerging fetal interventions and those for which clinical detection and intervention in the first week of life might lead to improved outcomes. Finally, we synthesize the potential benefits, limitations, and risks of a treatable fetal findings list.

  View details for DOI 10.1016/j.ajhg.2025.03.011

  View details for PubMedID 40209713

• Familial communication and cascade testing following elective genomic testing. Journal of genetic counseling Adelson, S. M., Blout Zawatsky, C. L., Hickingbotham, M. R., Bell, M. E., Platt, D. M., Leonhard, J. R., Zoltick, E. S., Hajek, C. A., Green, R. C., Christensen, K. D. 2024

  Abstract

  Familial communication of results and cascade genetic testing (CGT) can extend the benefits of genetic screening beyond the patient to their at-risk relatives. While an increasing number of health systems are offering genetic screening as an elective clinical service, data are limited about how often results are shared and how often results lead to CGT. From 2018 to 2022, the Sanford Health system offered the Sanford Chip, an elective genomic test that included screening for medically actionable predispositions for disease recommended by the American College of Medical Genetics and Genomics for secondary findings disclosure, to its adult primary care patients. We analyzed patient-reported data about familial sharing of results and CGT among patients who received Sanford Chip results at least 1 year previously. Among the patients identified with medically actionable predispositions, 94.6% (53/56) reported disclosing their result to at least one family member, compared with 46.7% (423/906) of patients with uninformative findings (p < 0.001). Of the patients with actionable predispositions, 52.2% (12/23) with a monogenic disease risk and 12.1% (4/33) with a carrier status reported that their relatives underwent CGT. Results suggest that while the identification of monogenic risk during elective genomic testing motivates CGT in many at-risk relatives, there remain untested at-risk relatives who may benefit from future CGT. Findings identify an area that may benefit from increased genetic counseling and the development of tools and resources to encourage CGT for family members.

  View details for DOI 10.1002/jgc4.1907

  View details for PubMedID 38757439

• Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA network open Gold, N. B., Adelson, S. M., Shah, N., Williams, S., Bick, S. L., Zoltick, E. S., Gold, J. I., Strong, A., Ganetzky, R., Roberts, A. E., Walker, M., Holtz, A. M., Sankaran, V. G., Delmonte, O., Tan, W., Holm, I. A., Thiagarajah, J. R., Kamihara, J., Comander, J., Place, E., Wiggs, J., Green, R. C. 2023; 6 (5): e2312231

  Abstract

  Newborn genome sequencing (NBSeq) can detect infants at risk for treatable disorders currently undetected by conventional newborn screening. Despite broad stakeholder support for NBSeq, the perspectives of rare disease experts regarding which diseases should be screened have not been ascertained.To query rare disease experts about their perspectives on NBSeq and which gene-disease pairs they consider appropriate to evaluate in apparently healthy newborns.This survey study, designed between November 2, 2021, and February 11, 2022, assessed experts' perspectives on 6 statements related to NBSeq. Experts were also asked to indicate whether they would recommend including each of 649 gene-disease pairs associated with potentially treatable conditions in NBSeq. The survey was administered between February 11 and September 23, 2022, to 386 experts, including all 144 directors of accredited medical and laboratory genetics training programs in the US.Expert perspectives on newborn screening using genome sequencing.The proportion of experts indicating agreement or disagreement with each survey statement and those who selected inclusion of each gene-disease pair were tabulated. Exploratory analyses of responses by gender and age were conducted using t and χ2 tests.Of 386 experts invited, 238 (61.7%) responded (mean [SD] age, 52.6 [12.8] years [range 27-93 years]; 126 [52.9%] women and 112 [47.1%] men). Among the experts who responded, 161 (87.9%) agreed that NBSeq for monogenic treatable disorders should be made available to all newborns; 107 (58.5%) agreed that NBSeq should include genes associated with treatable disorders, even if those conditions were low penetrance; 68 (37.2%) agreed that actionable adult-onset conditions should be sequenced in newborns to facilitate cascade testing in parents, and 51 (27.9%) agreed that NBSeq should include screening for conditions with no established therapies or management guidelines. The following 25 genes were recommended by 85% or more of the experts: OTC, G6PC, SLC37A4, CYP11B1, ARSB, F8, F9, SLC2A1, CYP17A1, RB1, IDS, GUSB, DMD, GLUD1, CYP11A1, GALNS, CPS1, PLPBP, ALDH7A1, SLC26A3, SLC25A15, SMPD1, GATM, SLC7A7, and NAGS. Including these, 42 gene-disease pairs were endorsed by at least 80% of experts, and 432 genes were endorsed by at least 50% of experts.In this survey study, rare disease experts broadly supported NBSeq for treatable conditions and demonstrated substantial concordance regarding the inclusion of a specific subset of genes in NBSeq.

  View details for DOI 10.1001/jamanetworkopen.2023.12231

  View details for PubMedID 37155167

  View details for PubMedCentralID PMC10167563