Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Jul;19(7):803-808.
doi: 10.1038/gim.2016.198. Epub 2017 Jan 12.

Genome Sequencing and Carrier Testing: Decisions on Categorization and Whether to Disclose Results of Carrier Testing

Affiliations
Free PMC article

Genome Sequencing and Carrier Testing: Decisions on Categorization and Whether to Disclose Results of Carrier Testing

Patricia Himes et al. Genet Med. .
Free PMC article

Abstract

Purpose: We investigated the use of genome sequencing for preconception carrier testing. Genome sequencing could identify one or more of thousands of X-linked or autosomal recessive conditions that could be disclosed during preconception or prenatal counseling. Therefore, a framework that helps both clinicians and patients understand the possible range of findings is needed to respect patient preferences by ensuring that information about only the desired types of genetic conditions are provided to a given patient.

Methods: We categorized gene-condition pairs into groups using a previously developed taxonomy of genetic conditions. Patients could elect to receive results from these categories. A Return of Results Committee (RORC) developed inclusion and exclusion criteria for each category.

Results: To date, the RORC has categorized 728 gene-condition pairs: 177 are categorized as life span-limiting, 406 are categorized as serious, 93 are categorized as mild, 41 are categorized as unpredictable, and 11 are categorized as adult-onset. An additional 64 gene-condition pairs were excluded from reporting to patients or put on a watch list, generally because evidence that a gene and condition were associated was limited.

Conclusion: Categorization of gene-condition pairs using our taxonomy simplifies communication regarding patient preferences for carrier information from a genomic test.Genet Med advance online publication 12 January 2017.

Similar articles

See all similar articles

Cited by 12 articles

See all "Cited by" articles

References

    1. Green RC, Goddard KA, Jarvik GP, et al.; CSER Consortium. Clinical Sequencing Exploratory Research Consortium: accelerating evidence-based practice of genomic medicine. Am J Hum Genet 2016;98:1051–1066. - PMC - PubMed
    1. McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University. Online Mendelian Inheritance in Man, OMIM. 2016. http://omim.org/. Accessed 03 March 2016.
    1. Wilfond BS, Goddard KA. It’s complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making. Mol Genet Genomic Med 2015;3:239–242. - PMC - PubMed
    1. Leo MC, McMullen C, Wilfond BS, et al. Patients’ ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing. Am J Med Genet A 2016;170:574–582. - PMC - PubMed
    1. Korngiebel DM, McMullen CK, Amendola LM, et al. Generating a taxonomy for genetic conditions relevant to reproductive planning. Am J Med Genet A 2016;170:565–573. - PMC - PubMed

Publication types

Feedback