首页|Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study

Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study

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  • NSTL
  • Elsevier
Purpose: This study aimed to evaluate uptake and follow-up using internet-assisted population genetic testing (GT) for BRCA1/2 Ashkenazi Jewish founder pathogenic variants (AJPVs). Methods: Across 4 cities in the United States, from December 2017 to March 2020, individuals aged >= 25 years with >= 1 Ashkenazi Jewish grandparent were offered enrollment. Participants consented and enrolled online with chatbot and video education, underwent BRCA1/2 AJPV GT, and chose to receive results from their primary care provider (PCP) or study staff. Surveys were conducted at baseline, at 12 weeks, and annually for 5 years. Results: A total of 5193 participants enrolled and 4109 (79.1%) were tested (median age = 54, female = 77.1%). Upon enrollment, 35.1% of participants selected a PCP to disclose results, and 40.5% of PCPs agreed. Of those tested, 138 (3.4%) were AJPV heterozygotes of whom 21 (15.2%) had no significant family history of cancer, whereas 86 (62.3%) had a known familial pathogenic variant. At 12 weeks, 85.5% of participants with AJPVs planned increased cancer screening; only 3.7% with negative results and a significant family history reported further testing. Conclusion: Although continued follow-up is needed, internet-enabled outreach can expand access to targeted GT using a medical model. Observed challenges for population genetic screening efforts include recruitment barriers, improving PCP engagement, and increasing uptake of additional testing when indicated. (C) 2021 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.

AshkenaziBRCA testingGenetic testingInternet-based interventionPopulation screeningFOUNDER MUTATIONSCANCERRISK

Morgan, Kelly M.、Hamilton, Jada G.、Symecko, Heather、Kamara, Daniella、Jenkins, Colby、Lester, Jenny、Spielman, Kelsey、Pace, Lydia E.、Gabriel, Camila、Levin, Jeffrey D.、Tejada, Prince Rainier、Braswell, Anthony、Marcell, Vanessa、Wildman, Temima、Devolder, Bryan、Baum, Robin Camhi、Block, Jeremy N.、Fesko, Yuri、Boehler, Kylin、Howell, Victoria、Heitler, Jacob、Robson, Mark E.、Nathanson, Katherine L.、Tung, Nadine、Karlan, Beth Y.、Domchek, Susan M.、Garber, Judy E.、Offit, Kenneth

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Mem Sloan Kettering Canc Ctr

Perelman Sch Med,Univ Penn

David Geffen Sch Med,Univ Calif Los Angeles

Dana Farber Canc Inst

Brigham & Womens Hosp

Quest Diagnost

Lifelink Syst

Beth Israel Deaconess Med Ctr

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2022

10.1016/j.gim.2021.10.016

Genetics in medicine

Genetics in medicine

ISTP
ISSN：1098-3600
年,卷(期)：2022.24(3)
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