1. Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study
- Author
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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, and Offit, Kenneth
- Subjects
Biological Sciences ,Genetics ,Cancer ,Health Services ,Genetic Testing ,Prevention ,Clinical Research ,4.4 Population screening ,Good Health and Well Being ,Adult ,BRCA1 Protein ,BRCA2 Protein ,Breast Neoplasms ,Cohort Studies ,Female ,Genetic Predisposition to Disease ,Humans ,Internet ,Jews ,Male ,Middle Aged ,Mutation ,Ovarian Neoplasms ,United States ,Ashkenazi ,BRCA testing ,Genetic testing ,Internet-based intervention ,Population screening ,Clinical Sciences ,Genetics & Heredity - Abstract
PurposeThis study aimed to evaluate uptake and follow-up using internet-assisted population genetic testing (GT) for BRCA1/2 Ashkenazi Jewish founder pathogenic variants (AJPVs).MethodsAcross 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.ResultsA 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.ConclusionAlthough 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.
- Published
- 2022