Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.

JAMA Psychiatry
Christa Lese MartinDavid H Ledbetter

Abstract

Population screening for medically relevant genomic variants that cause diseases such as hereditary cancer and cardiovascular disorders is increasing to facilitate early disease detection or prevention. Neuropsychiatric disorders (NPDs) are common, complex disorders with clear genetic causes; yet, access to genetic diagnosis is limited. We explored whether inclusion of NPD in population-based genomic screening programs is warranted by assessing 3 key factors: prevalence, penetrance, and personal utility. To evaluate the suitability of including pathogenic copy number variants (CNVs) associated with NPD in population screening by determining their prevalence and penetrance and exploring the personal utility of disclosing results. In this cohort study, the frequency of 31 NPD CNVs was determined in patient-participants via exome data. Associated clinical phenotypes were assessed using linked electronic health records. Nine CNVs were selected for disclosure by licensed genetic counselors, and participants' psychosocial reactions were evaluated using a mixed-methods approach. A primarily adult population receiving medical care at Geisinger, a large integrated health care system in the United States with the only population-based ge...Continue Reading

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Citations

Jan 19, 2021·Current Opinion in Genetics & Development·Samuel Jra ChawnerMichael J Owen
Feb 13, 2021·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Melissa A KellyNatasha T Strande
Jan 18, 2021·Current Opinion in Genetics & Development·Jacob Vorstman, Stephen W Scherer
Mar 23, 2021·Current Opinion in Genetics & Development·Elliott Rees, George Kirov
Jun 2, 2021·Current Opinion in Genetics & Development·Jennifer Gladys MulleJens Hjerling-Leffler
Jun 4, 2021·Current Opinion in Genetics & Development·Michael Mortillo, Jennifer G Mulle
Aug 4, 2021·Annals of the New York Academy of Sciences·Jennifer CableJennifer G Mulle
Aug 9, 2021·Trends in Genetics : TIG·Thomas J DinneenLouise Gallagher

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

ClinGen
R
PennCNV
R Project for Statistical Computing
DiscovEHR
MyCode
deCODE

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