American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
Publication
, Journal Article
Rehder, CW; David, KL; Hirsch, B; Toriello, HV; Wilson, CM; Kearney, HM
Published in: Genet Med
February 2013
Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband's parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p-arental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel.
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Published In
Genet Med
DOI
EISSN
1530-0366
Publication Date
February 2013
Volume
15
Issue
2
Start / End Page
150 / 152
Location
United States
Related Subject Headings
- United States
- Male
- Incidental Findings
- Humans
- Guidelines as Topic
- Genomics
- Genetics, Medical
- Genetics & Heredity
- Genetic Testing
- Female
Citation
APA
Chicago
ICMJE
MLA
NLM
Rehder, C. W., David, K. L., Hirsch, B., Toriello, H. V., Wilson, C. M., & Kearney, H. M. (2013). American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. Genet Med, 15(2), 150–152. https://doi.org/10.1038/gim.2012.169
Rehder, Catherine W., Karen L. David, Betsy Hirsch, Helga V. Toriello, Carolyn M. Wilson, and Hutton M. Kearney. “American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.” Genet Med 15, no. 2 (February 2013): 150–52. https://doi.org/10.1038/gim.2012.169.
Rehder CW, David KL, Hirsch B, Toriello HV, Wilson CM, Kearney HM. American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. Genet Med. 2013 Feb;15(2):150–2.
Rehder, Catherine W., et al. “American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.” Genet Med, vol. 15, no. 2, Feb. 2013, pp. 150–52. Pubmed, doi:10.1038/gim.2012.169.
Rehder CW, David KL, Hirsch B, Toriello HV, Wilson CM, Kearney HM. American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing. Genet Med. 2013 Feb;15(2):150–152.
Published In
Genet Med
DOI
EISSN
1530-0366
Publication Date
February 2013
Volume
15
Issue
2
Start / End Page
150 / 152
Location
United States
Related Subject Headings
- United States
- Male
- Incidental Findings
- Humans
- Guidelines as Topic
- Genomics
- Genetics, Medical
- Genetics & Heredity
- Genetic Testing
- Female