Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study |
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| Authors: | 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 Kenneth Offit |
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| Affiliation: | 1. Memorial Sloan Kettering Cancer Center, New York, NY;2. Department of Medicine and Basser Center for BRCA, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA;3. David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA;4. Dana-Farber Cancer Institute, Boston, MA;5. Beth Israel Deaconess Medical Center, Boston, MA;6. Brigham and Women’s Hospital, Boston, MA;7. Harvard Medical School, Boston, MA;8. Quest Diagnostics, Secaucus, NJ;9. Lifelink Systems, San Francisco, CA;1. School of Medicine Greenville, University of South Carolina, Greenville, SC;2. Center for Bioethics, University of South Carolina, Columbia, SC;3. Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY;4. Vanderbilt University Medical Center, Nashville, TN;5. Phoenix Children’s Hospital, College of Medicine, The University of Arizona, Phoenix, AZ;6. Optum, Eden Prairie, MN;7. Color Genomics, Burlingame, CA;8. Patient Advocate, Greenville, SC;9. GeneDx, Gaithersburg, MD;10. Homer Stryker M.D. School of Medicine, Western Michigan University, Kalamazoo, MI;11. Divisions of Medical Genetics and Molecular Diagnostics, Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, CA;12. The UCLA Institute for Society and Genetics, Los Angeles, CA;13. American College of Medical Genetics and Genomics, Bethesda, MD;1. Waisman Center, University of Wisconsin-Madison, Madison, WI;2. Department of Biostatistics and Bioinformatics, Duke University School of Medicine, Durham, NC;1. Institute of Medical Genetics, University of Zurich, Zurich, Switzerland;2. Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland;3. Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland;1. Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia;2. Ambry Genetics, Aliso Viejo, CA;3. Latin American School of Oncology, Los Angeles, CA;4. Molecular Pathology Laboratory, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia;5. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, and Royal Melbourne Hospital, Melbourne, Victoria, Australia;6. Sir Peter MacCallum Department of Oncology, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Melbourne, Victoria, Australia;1. Institute for Human Genetics, University of California San Francisco, San Francisco, CA;2. Institute for Health & Aging, School of Nursing, University of California San Francisco, San Francisco, CA;3. Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California San Francisco, San Francisco, CA;4. Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA;5. Department of Social & Behavioral Sciences, School of Nursing, University of California San Francisco, San Francisco, CA |
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| 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. |
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| Keywords: | Ashkenazi BRCA testing Genetic testing Internet-based intervention Population screening |
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