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Frequency of genomic incidental findings among 21,915 eMERGE network participants

Authors :
Ian B. Stanaway
Dan M. Roden
Hakon Hakonarson
Maureen E. Smith
Laura J. Rasmussen-Torvik
Marc S. Williams
Magalie S. Leduc
Jodell E. Linder
Donna M. Muzny
Cynthia A. Prows
Georgia L. Wiesner
Hana Zouk
Iftikhar J. Kullo
Leora Witkowski
Heidi L. Rehm
Sara L. Van Driest
Hila Milo Rasouly
Birgit Funke
Gail P. Jarvik
David Carrell
Eric B. Larson
Wendy K. Chung
Richard A. Gibbs
Christine M. Eng
Joshua C. Denny
Alexander Fedotov
Niall J. Lennon
Kimberly Walker
Elisabeth A. Rosenthal
David R. Crosslin
Eric Venner
Adam S. Gordon
Kathleen A. Leppig
Laura M. Amendola
Rex L. Chisholm
Source :
Genetics in medicine : official journal of the American College of Medical Genetics
Publication Year :
2020

Abstract

Discovering an incidental finding (IF) or secondary finding (SF) is a potential result of genomic testing, but few data exist describing types and frequencies of SFs likely to appear in broader clinical populations.The Electronic Medical Records and Genomics Network Phase III (eMERGE III) developed a CLIA-compliant sequencing panel of 109 genes and 1551 variants of clinical relevance or research interest and deployed this panel at ten clinical sites. We evaluated medically actionable SFs across 67 genes and 14 single-nucleotide variants (SNVs) in a diverse cohort of 21,915 participants drawn from a variety of settings (e.g., primary care, biobanks, specialty clinics).Correcting for testing indication, we found a 3.02% overall frequency of SFs; 2.54% from 59 genes the American College of Medical Genetics and Genomics recommends for SF return, and 0.48% in other genes, primarily HFE and PALB2. SFs associated with cancer susceptibility were most frequent (1.38%), followed by cardiovascular diseases (0.87%), and lipid disorders (0.50%). After removing HFE, the frequency of SFs and proportion of pathogenic versus likely pathogenic SFs did not differ in those self-identifying as White versus others.Here we present frequencies and types of medically actionable secondary findings to support informed decision making by patients, participants, and practitioners engaged in genomic medicine.

Details

Language :
English
ISSN :
15300366 and 10983600
Volume :
22
Issue :
9
Database :
OpenAIRE
Journal :
Genetics in medicine : official journal of the American College of Medical Genetics
Accession number :
edsair.doi.dedup.....188d21aa2266526822b8d373872e2ec5