The evolving landscape of expanded carrier screening: challenges and opportunities.

ABSTRACT: Carrier screening allows individuals to learn their chance of passing on an autosomal or X-linked condition to their offspring. Initially introduced as single-disease, ancestry-based screening, technological advances now allow for the possibility of multi-disease, pan-ethnic carrier screening, which we refer to as "expanded carrier screening." There are numerous potential benefits to expanded carrier screening, including maximizing the opportunity for couples to make autonomous reproductive decisions, and efficiency and marginal additional costs of including more conditions if the test is already being offered. While numerous laboratories currently offer expanded carrier screening services, it is not yet commonly used in clinical practice, and there is a lack of consensus among experts abo

SUBMITTER: Kraft SA 

PROVIDER: S-EPMC6752283 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature