Clinical Utility

Are we providing patients and providers with information that will improve outcomes?

Published data has shown that expanded carrier screening panels identify significantly more affected births than ethnic-specific carrier screening across all ethnicities. In addition, studies show couples at-risk of having a child affected by a serious genetic disease do alter their reproductive plans based on their carrier screening results. This has been demonstrated in both the preconception and prenatal settings.

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.

Journal of Genetic Counseling. September 27 2017; doi:10.1007/s10897-017-0160-1 Ghiossi C, Goldberg, JD, Haque IS, et al.

Expanded carrier screening in an infertile population: how often is clinical decision making affected?

Genet Med. Nov 2016;18(11):1097-1101. PMID 26938781 Franasiak JM, Olcha M, Bergh PA, et al.

Modeled fetal risk of genetic diseases identified by expanded carrier screening.

JAMA. Aug 16 2016;316(7):734-742. PMID 27533158 Haque IS, Lazarin GA, Kang HP, et al.

Carrier screening in the era of expanding genetic technology.

Genet Med. Dec 2016;18(12):1214-1217. PMID 27054707 Arjunan A, Litwack K, Collins N, et al.

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics in Medicine. 2012;15(3):178-186. doi:10.1038/gim.2012.114 Lazarin G, Haque I, Nazareth S et al.

Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis.

New England Journal of Medicine. 2008;358(9):973-974. doi:10.1056/nejmc0707530 Hale J, Parad R, Comeau A.

Reproductive Health Choices for Young Adults With Sickle Cell Disease or Trait.

Nursing Research. 2013;62(5):352-361.doi:10.1097/nnr.0b013e3182a0316b Wilkie D, Gallo A, Yao Y et al.

Responsible implementation of expanded carrier screening.

Eur J Hum Genet. Jun 2016;24(6):e1-e12. PMID 26980105 Henneman L, Borry P, Chokoshvili D, et al.