Clinical outcomes of a genomic screening program for actionable genetic conditions

被引：96

作者：

Buchanan, Adam H. ^{[1
]}

Kirchner, H. Lester ^{[2
]}

Schwartz, Marci L. B. ^{[1
]}

Kelly, Melissa A. ^{[1
]}

Schmidlen, Tara ^{[1
]}

Jones, Laney K. ^{[1
]}

Hallquist, Miranda L. G. ^{[1
]}

Rocha, Heather ^{[1
]}

Betts, Megan ^{[1
]}

Schwiter, Rachel ^{[1
]}

Butry, Loren ^{[1
]}

Lazzeri, Amanda L. ^{[1
]}

Frisbie, Lauren R. ^{[1
]}

Rahm, Alanna Kulchak ^{[1
]}

Hao, Jing ^{[1
,2
]}

Willard, Huntington F. ^{[1
,3
]}

Martin, Christa L. ^{[1
,4
]}

Ledbetter, David H. ^{[1
,4
]}

Williams, Marc S. ^{[1
]}

Sturm, Amy C. ^{[1
]}

机构：

[1] Geisinger, Genom Med Inst, Danville, PA 17822 USA

[2] Geisinger, Dept Populat Hlth Sci, Danville, PA USA

[3] Genome Med, Durham, NC USA

[4] Geisinger, Autism & Dev Med Inst, Lewisburg, PA USA

来源：

GENETICS IN MEDICINE | 2020年 / 22卷 / 11期

关键词：

genomic screening; BRCA1; BRCA2; Lynch syndrome; familial hypercholesterolemia; FAMILIAL HYPERCHOLESTEROLEMIA; MEDICAL GENETICS; AMERICAN-COLLEGE; OVARIAN-CANCER; BRCA1; ASSOCIATION; PREVALENCE; MANAGEMENT; STATEMENT; GEISINGER;

D O I：

10.1038/s41436-020-0876-4

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 diagnosis of their tier 1 result. Of these, 65% had EHR evidence of relevant personal and/or family history of disease. Of 255 individuals eligible to have risk management, 70% (n = 179) had a recommended risk management procedure after results disclosure. Thirteen percent of participants (41/305) received a relevant clinical diagnosis after results disclosure. Conclusion Genomic screening programs can identify previously unrecognized individuals at increased risk of cancer and heart disease and facilitate risk management and early cancer detection.

引用

页码：1874 / 1882

页数：9

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