Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.

ABSTRACT: With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-

SUBMITTER: Plantinga M 

PROVIDER: S-EPMC5027688 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature