Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study
| Autor: | Kelly M. Morgan, Jada G. Hamilton, Heather Symecko, Daniella Kamara, Colby Jenkins, Jenny Lester, Kelsey Spielman, Lydia E. Pace, Camila Gabriel, Jeffrey D. Levin, Prince Rainier Tejada, Anthony Braswell, Vanessa Marcell, Temima Wildman, Bryan Devolder, Robin Camhi Baum, Jeremy N. Block, Yuri Fesko, Kylin Boehler, Victoria Howell, Jacob Heitler, Mark E. Robson, Katherine L. Nathanson, Nadine Tung, Beth Y. Karlan, Susan M. Domchek, Judy E. Garber, Kenneth Offit |
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| Rok vydání: | 2022 |
| Předmět: |
Adult
Male Genetic testing Clinical Sciences Breast Neoplasms Article Cohort Studies Population screening Clinical Research Genetics Humans Genetic Predisposition to Disease Genetic Testing Genetics (clinical) Cancer Ovarian Neoplasms BRCA2 Protein Genetics & Heredity Internet BRCA1 Protein Prevention Middle Aged Health Services Internet-based intervention United States BRCA testing Good Health and Well Being Jews Ashkenazi Mutation Female |
| Zdroj: | Genetics in medicine : official journal of the American College of Medical Genetics, vol 24, iss 3 Genet Med |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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