The evolving landscape of expanded carrier screening: challenges and opportunities

Genet Med. 2019 Apr;21(4):790-797. doi: 10.1038/s41436-018-0273-4. Epub 2018 Sep 24.


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 about the service, including whether this should be offered to individuals and couples, whether this should be offered preconception or prenatally, and what conditions to include in screening programs. Challenges for expanded carrier screening programs include a lack of demand from the public, low prioritization by health systems, the potential for pressure to undergo screening, the possibility of disability-based discrimination, needed adaptations to pre- and post-test counseling, technical limitations, and the evolving technological and socio-political landscape.

Keywords: clinical genomics; ethical, legal, and social implications; pan-ethnic screening.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Genetic Carrier Screening / methods*
  • Genetic Counseling / methods*
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Testing / trends
  • Heterozygote
  • Humans
  • Reproduction / genetics*