Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive degeneration of motor neurons in the spinal cord. Carrier testing for SMA is clinically available but not routinely offered. In November 2008, the American College of Medical Genetics (ACMG) released a practice guideline in favor of offering SMA carrier testing to all couples regardless of family history. However, in May 2009, the American College of Obstetricians and Gynecologists (ACOG) issued a committee opinion recommending that SMA carrier testing only be offered to individuals with a family history. The conflicting guidelines have left healthcare providers without clear guidance concerning SMA carrier testing. The purpose of this study was to explore prenatal genetic counselors’ current practices regarding SMA carrier testing. We recruited prenatal genetic counselors through the National Society of Genetic Counselors listserv to complete an online, anonymous survey. Additionally, we conducted semi-structured interviews with a small subset of the survey respondents. More than half (56.9%) of the 137 survey respondents do not offer SMA carrier testing to their patients in the absence of a family history of SMA. However, two-thirds of these individuals believed their patients would benefit from learning about SMA. Among those counselors who do offer SMA carrier testing in the absence of a family history, most (62.7%) reported that they offer it to all patients. For some counselors, the decision to offer SMA carrier testing is governed by institutional policy. Respondents reported several challenges related to SMA carrier testing, including difficulty explaining the complexity of SMA genetics, testing limitations, the uncertainty surrounding insurance coverage, and the differing guidelines issued by ACMG and ACOG. Our findings indicate a lack of uniformity in the approach to SMA carrier testing, even among members of the genetic counseling community.