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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Morgan, KM; Hamilton, JG; Symecko, H; Kamara, D; Jenkins, C; Lester, J; Spielman, K; Pace, LE; Gabriel, C; Levin, JD; Tejada, PR; Braswell, A; Marcell, V; Wildman, T; Devolder, B; Baum, RC; Block, JN; Fesko, Y; Boehler, K; Howell, V; Heitler, J; Robson, ME; Nathanson, KL; Tung, N; Karlan, BY; Domchek, SM; Garber, JE; Offit, K

Published Date

  • March 2022

Published In

Volume / Issue

  • 24 / 3

Start / End Page

  • 564 - 575

PubMed ID

  • 34906490

Pubmed Central ID

  • PMC9306016

Electronic International Standard Serial Number (EISSN)

  • 1530-0366

Digital Object Identifier (DOI)

  • 10.1016/j.gim.2021.10.016


  • eng

Conference Location

  • United States