Utilization of Expanded Carrier Screening by Reproductive Genetic Counselors

Expanded carrier screening is increasingly being utilized in the preconception and prenatal clinical settings as an all-inclusive, pan-ethnic alternative to traditional carrier screening approaches. Although it is an existing option for reproductive genetic counselors to present to patients, there is little data in the literature on how often genetic counselors offer patients expanded carrier screening and what size panels they commonly offer. This study sought to evaluate the status of expanded carrier screening in practice by surveying genetic counselors that work in a preconception and/or prenatal clinical setting about their utilization of expanded carrier screening and their thoughts about its future incorporation into clinical practice. Participants were recruited through the National Society of Genetic Counselors’ Student Research Survey Program, and responses from 123 participants were used in the final analysis. Genetic counselors were asked to provide insight on the panels that they offer in their clinic, and what patients referred to their practice have received for carrier screening. The three most common panel sizes for genetic counselors to offer to some or all of their patients were panels of less than 15 conditions, ethnicity-based screening, and expanded panels of 200+ conditions. For patients that receive carrier screening from a referring provider, a panel of less than 15 conditions or ethnicity-based screening was most commonly ordered (67.9%). However, 72.4% of genetic counselors surveyed believe expanded carrier screening should become standard of care in the future. Counselors in support of expanded carrier screening as standard of care cited a patient’s right to know and ability to make informed decisions. Conversely, some counselors believed the risks of expanded carrier screening outweigh the benefits. This study highlights that expanded carrier screening is being incorporated into practice by genetic counselors, although concerns do exist about its widespread implementation moving forward.