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.
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.
Authors: Mary B Daly; Robert Pilarski; Matthew B Yurgelun; Michael P Berry; Saundra S Buys; Patricia Dickson; Susan M Domchek; Ahmed Elkhanany; Susan Friedman; Judy E Garber; Michael Goggins; Mollie L Hutton; Seema Khan; Catherine Klein; Wendy Kohlmann; Allison W Kurian; Christine Laronga; Jennifer K Litton; Julie S Mak; Carolyn S Menendez; Sofia D Merajver; Barbara S Norquist; Kenneth Offit; Tuya Pal; Holly J Pederson; Gwen Reiser; Kristen Mahoney Shannon; Kala Visvanathan; Jeffrey N Weitzel; Myra J Wick; Kari B Wisinski; Mary A Dwyer; Susan D Darlow Journal: J Natl Compr Canc Netw Date: 2020-04 Impact factor: 11.908
Authors: Bronislava M Sigal; Diego F Munoz; Allison W Kurian; Sylvia K Plevritis Journal: Cancer Epidemiol Biomarkers Prev Date: 2012-05-03 Impact factor: 4.254
Authors: Jennifer M Hoskovec; R L Bennett; M E Carey; J E DaVanzo; M Dougherty; S E Hahn; B S LeRoy; S O'Neal; J G Richardson; C A Wicklund Journal: J Genet Couns Date: 2017-10-20 Impact factor: 2.537
Authors: Lydia E Pace; Yeonsoo S Lee; Nadine Tung; Jada G Hamilton; Camila Gabriel; Sahitya C Raja; Colby Jenkins; Anthony Braswell; Susan M Domchek; Heather Symecko; Kelsey Spielman; Beth Y Karlan; Jenny Lester; Daniella Kamara; Jeffrey Levin; Kelly Morgan; Kenneth Offit; Judy Garber; Nancy L Keating Journal: BMC Med Res Methodol Date: 2020-08-17 Impact factor: 4.615