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. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.

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

“…Those who do not make alternative reproductive decisions based on their carrier status may still use this knowledge to prepare for the birth of an affected child and facilitate early intervention (in many cases) for the best possible outcomes. 1,2 Historically, carrier screening programs targeted a small number of diseases that are highly prevalent in an ethnic-defined population. More recently developed, expanded carrier screening (ECS) assesses risk for dozens or hundreds of diseases across all populations (panethnic, or universal screening).…”

Advantages of expanded universal carrier screening: what is at stake?

“…4 Initially targeted at Tay-Sachs disease, screening programmes for the Jewish population have expanded since, with panels now including up to 38 diseases. 2 A more recent development is the promotion of universal approaches that offer screening to all individuals regardless of race or ethnicity, for instance carrier screening for cystic fibrosis (CF). Originally, US screening guidelines for CF addressed Caucasians and Ashkenazi Jewish populations.…”

“…7,13 Moreover, some of these publications specifically indicate a preference for EUCS over traditional (targeted and/or ancestry-based) screening protocols. 2,10,14 Advocates mention three main moral advantages of this new screening proposition. First of all, EUCS would better serve the aim of reproductive screening, which is to enhance opportunities for autonomous reproductive choice.…”

“…So much, at least, is the claim: whereas 'screening for individual conditions limits the amount of accessible genetic information for participants', 7 EUCS provides (prospective) parents with much more genetic information that might be relevant for making reproductive decisions. 2 Second, EUCS would ensure that this genetic information will be available to all those who may benefit from it. 13 In many countries, carrier screening is currently available to only selected parts of the population.…”

Carrier Screening for Cystic Fibrosis: Past, Present and Future

“…The introduction of Next Generation Sequencing (NGS) platforms has allowed the simultaneous mutation testing for more than a hundred genetic conditions at a comparable cost as when testing mutations in a single gene or a small number of population specific mutations in several genes [55][56][57][58]. In view of the technological advancements the new era of preconception screening is moving fast towards an Expanded Carrier Screening (ECS) approach.…”