Abstract
Expanded carrier screening (ECS), introduced in 2009, identifies carriers for dozens or hundreds of recessive diseases. At the time of its introduction into clinical use, perspectives of the genetic counseling community regarding ECS were unknown. We conducted a survey in early 2012 of GCs and report the results here. They represent a snapshot of opinions and usage at that time, providing a baseline for comparison as the technology continues to evolve and as usage increases. The survey assessed personal perspectives, opinions on clinical implementation and clinical utilization of ECS. The sample included 337 GCs of varying clinical fields, of whom 150 reported practicing in reproductive settings. Our findings demonstrate that, at the time, GCs indicated general agreement with ECS as a concept – for example, most GCs agreed that carrier screening should address diseases outside of current guidelines and also indicated personal interest in electing ECS. There were also disagreements or concerns expressed regarding appropriate pre- and post-test counseling (e.g., the content and delivery mode of adequate informed consent) and practical implementation (e.g., the amount of time available for follow-up care). This was the first quantitative study of a large number of GCs and it revealed initial overall support for ECS among the GC profession. The authors plan to re-administer a similar survey, which may reveal changes in opinions and/or utilization over time. A follow up survey would also allow further exploration of questions uncovered by these data.
Highlights
Expanded carrier screening (ECS) uses next-generation sequencing or microarray hybridization analysis to detect mutations in many genes associated with recessive genetic diseases
Carrier screening has traditionally focused on limited diseases of high prevalence, either in certain ethnicities or universally, based on guidelines issued by the American Congress of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics and Genomics (ACMG) (ACOG 2007, 2009, 2011; Gross et al 2008; Prior 2008)
337 Genetic counselors (GC) completed the survey, resulting in an 11.1 % response rate based on the 2012 National Society of Genetic Counselors (NSGC) membership of 3,039
Summary
Expanded carrier screening (ECS) uses next-generation sequencing or microarray hybridization analysis to detect mutations in many genes associated with recessive genetic diseases. The same objective remains as that of standard singlegene analysis protocols: identification of couples at risk for transmitting genetic conditions in order to guide reproductive decision-making in the prenatal or preconception period (Edwards et al 2015; Grody et al 2013). Introduced in 2009, multiple laboratories offer panels that vary in diseases and mutations tested and other characteristics. Though individuals may decide whether to undergo screening, the specific testing options available to them are often dependent on the provider’s practices, since a physician’s offering and prescription are generally required. Given the lack of guidance on whether and how to offer ECS, varying clinical practices can be anticipated
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