Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics

Genetics in Medicine

Volumn 19, Issue 2, 2017, Pages 249-255

  Kalia, Sarah S ^a   Adelman, Kathy ^b   Bale, Sherri J ^c   Chung, Wendy K ^d   Eng, Christine ^e   Evans, James P ^f   Herman, Gail E ^g   Hufnagel, Sophia B ^h   Klein, Teri E ⁱ   Korf, Bruce R ^j   McKelvey, Kent D ^k,l   Ormond, Kelly E ⁱ   Richards, C Sue ^m   Vlangos, Christopher N ⁿ   Watson, Michael ^o   Martin, Christa L ^p   Miller, David T ^q  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b Patient advocate   (United States)

^c GENEDX   (United States)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^g OHIO STATE UNIVERSITY   (United States)

^h CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

ⁱ STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^k UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^l UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

^m OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

ⁿ VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o American College of Medical Genetics   (United States)

^p GEISINGER HEALTH SYSTEM   (United States)

^q BOSTON CHILDREN S HOSPITAL   (United States)

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Author keywords

Exome sequencing; Genetic testing; Genome sequencing; Incidental fndings; Secondary fndings

Indexed keywords

BONE MORPHOGENETIC PROTEIN RECEPTOR 1A; SMAD4 PROTEIN; WILSON DISEASE PROTEIN;

ARTICLE; EXOME; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC RISK; GENETIC SCREENING; GENETIC TRAIT; GENOMICS; HUMAN; HUMAN GENOME; MEDICAL GENETICS; MORBIDITY; MORTALITY; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PHENOTYPE; SANGER SEQUENCING; GENETICS; STANDARDS; WHOLE EXOME SEQUENCING;

EXOME; GENETIC TESTING; GENETICS, MEDICAL; GENOME, HUMAN; GENOMICS; HUMANS; WHOLE EXOME SEQUENCING;

EID: 85011835129     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.190     Document Type: Article

References (22)

1. Green RC, Berg JS, Grody WW, et al.; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-574.
2. Weiner C. Anticipate and communicate: ethical management of incidental and secondary findings in the clinical, research, and direct-to-consumer contexts (December 2013 report of the Presidential Commission for the Study of Bioethical Issues). Am J Epidemiol 2014;180:562-564.
3. ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med 2015;17:68-69.
4. Scheuner M T, Peredo J, Benkendorf J, et al. Reporting genomic secondary findings: ACMG members weigh in. Genet Med 2015;17:27-35.
5. Rehm HL, Berg JS, Brooks LD, et al.; ClinGen. ClinGen-the Clinical Genome Resource. N Engl J Med 2015;372:2235-2242.
6. Hunter JE IS, Biesecker LG, Buchanan A, et al. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med. 2016;18:467-475.
7. ClinGen. Actionability Working Group Evidence-based Summaries. https://clinicalgenome.org/working-groups/actionability/projects-initiatives/actionability-evidence-based-summaries. Accessed 23 August, 2016.
8. Wang L, Guo DC, Cao J, et al. Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet 2010;87:701-707.
9. Milewicz DM, Regalado RE. Thoracic Aortic Aneurysms and Aortic Dissections. GeneReviews. University of Washington: Seattle, WA, 2012.
10. Weiss KH. Wilson Disease. GeneReviews. University of Washington: Seattle, WA, 2016.
11. Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD). Diagnosis and treatment of Wilson disease: an update. Hepatology 2008;47:2089-2111.
12. Ala A, Walker A P, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet 2007;369:397-408.
13. Larsen Haidle J, Howe JR. Juvenile Polyposis Syndrome. GeneReviews. University of Washington, Seattle, WA, 2015.
14. McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. GeneReviews. University of Washington, Seattle, WA, 2014.
15. Tuchman M. The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency. J Lab Clin Med 1992;120:836-850.
16. Batshaw ML, Msall M, Beaudet AL, Trojak J. Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr 1986;108:236-241.
17. Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw ML. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann Neurol 2004;55:80-86.
18. Batshaw ML, MacArthur RB, Tuchman M. Alternative pathway therapy for urea cycle disorders: twenty years later. J Pediatr 2001;138(1 suppl):S46-54; discussion S54.
19. Lichter-Konecki U, Caldovic L, Morizono H, et al. Ornithine Transcarbamylase Deficiency. GeneReviews. University of Washington, Seattle, WA, 2016.
20. Richards S, Aziz N, Bale S, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-424.
21. Bodian DL, Klein E, Iyer RK, et al. Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1, 696 neonates. Genet Med 2016;18:221-230.
22. Berg JS, Powell CM. Potential uses and inherent challenges of using genome-scale sequencing to augment current newborn screening. Cold Spring Harb Perspect Med. 2015;5:pii: a023150.