Genetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability.
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.
Counsyl, 180 Kimball Way, South San Francisco, CA, 94080, USA. gabriel@counsyl.com.
Gabriel A
GA
Lazarin
Department of Maternal-Fetal Medicine, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Stacey
S
Detweiler
Counsyl, 180 Kimball Way, South San Francisco, CA, 94080, USA.
Shivani B
SB
Nazareth
Department of Maternal-Fetal Medicine, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
Elena
E
Ashkinadze
D000328:Adult; D001291:Attitude of Health Personnel; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing; D007722:Health Knowledge, Attitudes, Practice; D006306:Health Surveys; D006579:Heterozygote; D006801:Humans; D007258:Informed Consent; D008297:Male; D008875:Middle Aged; D011795:Surveys and Questionnaires; D055815:Young Adult
Attitudes; Beliefs; Clinical practice; Expanded carrier screening; Genetic counselor; Recessive disease; Reproductive genetics; Survey