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

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 e

SUBMITTER: Himes P 

PROVIDER: S-EPMC5509491 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature