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. 2020 Aug;22(8):1288-1295.
doi: 10.1038/s41436-020-0822-5. Epub 2020 May 14.

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Joshua L Deignan  1 , Caroline Astbury  2 , Garry R Cutting  3 , Daniela Del Gaudio  4 , Anthony R Gregg  5 , Wayne W Grody  6 , Kristin G Monaghan  7 , Sue Richards  8 ; ACMG Laboratory Quality Assurance Committee
Affiliations

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Joshua L Deignan et al. Genet Med. 2020 Aug.

Abstract

Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal carrier screening by molecular methods. The American College of Medical Genetics and Genomics (ACMG) recommended a core panel of 23 disease-causing variants as the minimal set to be included in pan-ethnic carrier screening of individuals with no family history of the disease, and these variants were usually assessed using targeted methods. The original recommendation also left open the option for laboratories to offer expanded CFTR variant panels; however, at the time, expanded CFTR variant panels were met with some controversy on the basis of the available technologies and the limited phenotypic knowledge of rare variants. Both of those aspects have now evolved, prompting this update of the ACMG technical standards for CFTR variant testing.

Keywords: fibrosis; genome; pancreatitis; screening; variant.

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Conflict of interest statement

DISCLOSURE

J.L.D., C.A., D.d.G., W.W.G., K.G.M., and S.R. all serve as directors in clinical laboratories that perform a breadth of genetic and genomic analyses on a fee-for-service basis. K.G.M. is an employee of GeneDx, a wholly owned subsidiary of OPKO Health, Inc. The other authors declare no conflicts of interest.

References

    1. Kerem B, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073–1080. - PubMed
    1. Riordan JR, Rommens JM, Kerem B, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989;245:1066–1073. - PubMed
    1. Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245:1059–1065. - PubMed
    1. Grody WW, Cutting GR, Klinger KW, et al. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001;3:149–154. - PubMed
    1. Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6:387–391. - PMC - PubMed

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