Spinal Muscular Atrophy: Ordering Trends Pre- and Post-ACOG Committee Opinion 691 [17O

Abstract

INTRODUCTION: Spinal muscular atrophy (SMA) is a leading inherited cause of infant death and is second to cystic fibrosis (CF) as a common, life-limiting autosomal recessive disorder. In March 2017, the American College of Obstetrics and Gynecology (ACOG) released a committee opinion (691) stating that screening for SMA should be offered to all patients considering pregnancy or currently pregnant. METHODS: To assess the uptake of SMA screening following the ACOG recommendations, a retrospective analysis of tests ordered from healthcare practices for single gene carrier screening of SMA and CF was performed. Data were analyzed over two equal time periods pre- and post-March 2017. RESULTS: Data were collected from nearly 4,000 healthcare providers who ordered at least one SMA test in the study period. The average number of monthly tests ordered per practice was six pre-ACOG opinion, and 16.7 post-ACOG opinion. Over 50% of practices did not order SMA testing prior to the ACOG opinion. Among practices regularly ordering testing for CF there was an increase in testing for SMA post-opinion, however, the number of CF tests received was 27% higher than SMA tests received. CONCLUSION: Carrier screening for SMA increased more than two and half times post ACOG opinion, likely due to the new recommendations. Despite the increase in SMA carrier tests, the number of SMA tests post-opinion did not match the number of CF tests from healthcare practices sending both tests to our laboratory. These findings suggest increased adoption of SMA screening guidelines but still not at the level observed for CF.