作者
Adam H Buchanan, H Lester Kirchner, Marci LB Schwartz, Melissa A Kelly, Tara Schmidlen, Laney K Jones, Miranda LG Hallquist, Heather Rocha, Megan Betts, Rachel Schwiter, Loren Butry, Amanda L Lazzeri, Lauren R Frisbie, Alanna Kulchak Rahm, Jing Hao, Huntington F Willard, Christa L Martin, David H Ledbetter, Marc S Williams, Amy C Sturm
发表日期
2020/11/1
期刊
Genetics in Medicine
卷号
22
期号
11
页码范围
1874-1882
出版商
Elsevier
简介
Purpose
Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that reduce morbidity and mortality, prompting proposals to screen unselected populations for these conditions. We examined the impact of genomic screening on risk management and early detection in an unselected population.
Methods
Observational study of electronic health records (EHR) among individuals in whom a pathogenic/likely pathogenic variant in a tier 1 gene was discovered through Geisinger’s MyCode project. EHR of all eligible participants was evaluated for a prior genetic diagnosis and, among participants without such a diagnosis, relevant personal/family history, postdisclosure clinical diagnoses, and postdisclosure risk management.
Results
Eighty-seven percent of participants (305/351) did not have a prior genetic …
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AH Buchanan, HL Kirchner, MLB Schwartz, MA Kelly… - Genetics in Medicine, 2020