Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

Genet Med. 2017 Jul;19(7):803-808. doi: 10.1038/gim.2016.198. Epub 2017 Jan 12.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Disclosure / ethics
  • Disclosure / standards*
  • Exome
  • Genetic Carrier Screening / methods*
  • Genetic Carrier Screening / standards*
  • Genetic Testing / ethics
  • Genetic Testing / methods
  • Genetic Testing / standards
  • Genome, Human
  • Genomics
  • Humans
  • Incidental Findings
  • Patient Preference
  • Sequence Analysis, DNA / methods