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Finding the Rare Pathogenic Variants in a Human Genome

Educational Objective:
To understand how whole genome sequencing works and define its clinical utility
1 Credit CME

Decreases in the cost of DNA sequencing have enabled substantial progress in fields ranging from archaeology and evolution to basic biomedical science. Concomitantly, there have been calls for routine genome-scale sequencing of healthy individuals in hopes of discovering clinically important information. For example, discovery of a high risk of breast and ovarian cancer due to a BRCA1/2 mutation can enable aggressive surveillance or risk-reducing surgery.

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Article Information

Corresponding Author: James P. Evans, MD, PhD, Departments of Genetics and Medicine, CB #7264, Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7264 (jpevans@med.unc.edu).

Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Dr Berg reports being a funded investigator on the National Human Genome Research Institute–funded GeneScreen project, which is investigating the potential use of genomic screening of a small panel of genes in generally healthy adults. No other disclosures were reported.

References
1.
Strande  NT, Berg  JS.  Defining the clinical value of a genomic diagnosis in the era of next-generation sequencing.  Annu Rev Genomics Hum Genet. 2016;17:303-332.PubMedGoogle ScholarCrossref
2.
Rehm  HL, Berg  JS, Brooks  LD,  et al; ClinGen.  ClinGen—the clinical genome resource.  N Engl J Med. 2015;372(23):2235-2242.PubMedGoogle ScholarCrossref
3.
Goldstein  DB, Allen  A, Keebler  J,  et al.  Sequencing studies in human genetics: design and interpretation.  Nat Rev Genet. 2013;14(7):460–470.PubMedGoogle ScholarCrossref
4.
Khoury  MJ, Janssens  AC, Ransohoff  DF.  How can polygenic inheritance be used in population screening for common diseases?  Genet Med. 2013;15(6):437-443.PubMedGoogle ScholarCrossref
5.
Corpas  M, Valdivia-Granda  W, Torres  N,  et al.  Crowdsourced direct-to-consumer genomic analysis of a family quartet.  BMC Genomics. 2015;16:910-926.PubMedGoogle ScholarCrossref
6.
Adams  MC, Evans  JP, Henderson  GE, Berg  JS.  The promise and peril of genomic screening in the general population.  Genet Med. 2016;18(6):593-599.PubMedGoogle ScholarCrossref
7.
Chen  S, Wang  W, Lee  S,  et al; Colon Cancer Family Registry.  Prediction of germline mutations and cancer risk in the Lynch syndrome.  JAMA. 2006;296(12):1479-1487.PubMedGoogle ScholarCrossref
8.
Evans  JP, Berg  JS, Olshan  AF, Magnuson  T, Rimer  BK.  We screen newborns, don’t we ?  Genet Med. 2013;15(5):332-334.PubMedGoogle ScholarCrossref
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