title: Changing trends in carrier screening for genetic disease in the United States.
abstract: Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan-ethnic expanded genetic screening that enables obstetric care providers to offer screening for over 100 recessive genetic diseases. However, the rapid integration of genomic medicine into routine obstetric practice has raised some concerns about the practical implementation of such testing. These changing trends in carrier screening, along with concerns and potential solutions, will be addressed.
authors.affiliation: Counsyl, South San Francisco, CA, USA.
authors.forename: Shivani B
authors.initials: SB
authors.lastname: Nazareth
authors.affiliation: Counsyl, South San Francisco, CA, USA.
authors.forename: Gabriel A
authors.initials: GA
authors.lastname: Lazarin
authors.affiliation: Counsyl, South San Francisco, CA, USA.
authors.forename: James D
authors.initials: JD
authors.lastname: Goldberg
mesh_terms: D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D005820:Genetic Testing / Q000639:trends*; D006801:Humans; D007258:Informed Consent; D011296:Prenatal Diagnosis / Q000523:psychology / Q000639:trends*; D013240:Stereotyping; D014481:United States