Findings from Two Studies Evaluating up to 70,000 Patients Presented at the 2015 Annual ACOG Meeting
Good Start Genetics®, Inc., a commercial-stage molecular genetics information company, today presented data from two studies analyzing detection rates among patients at in vitro fertilization (IVF) clinics who underwent carrier screening for inherited diseases. The studies were presented at the 2015 Annual Clinical and Scientific Meeting of The American College of Obstetricians and Gynecologists (ACOG) being held in San Francisco, Calif.
The first study, titled “Carrier Screening with Next-Generation Sequencing Detects Common, Uncommon, and Novel Mutations,” evaluated 71,070 patients referred for carrier screening at IVF clinics across the U.S. Good Start Genetics utilized its next-generation DNA sequencing (NGS) platform to detect mutations causative of 14 genetic disorders recommended for carrier screening by ACOG, the American College of Medical Genetics and Genomics (ACMG), and the American Society for Reproductive Medicine (ASRM).
The study’s key findings were:
- Between 15 and 26 percent of the 3,093 carriers identified by Good Start’s NGS-based platform would have been missed by the traditional screening tests being offered by the three leading competitors.
- Traditional screening tests would have missed 299 of the 403 distinct, disease-causing mutations identified by NGS.
“By design, traditional genetic screening assays have limited utility identifying carriers among an ethnically diverse patient population. This study builds on a growing body of data suggesting that next-generation sequencing meaningfully improves outcomes in genetic screening by identifying more patients at risk of conceiving a child with a debilitating or fatal genetic disorder,” said Don Hardison, president and chief executive officer of Good Start Genetics.
A second poster, titled “Carrier Screening for Spinal Muscular Atrophy Among U.S. In Vitro Fertilization Patients,” evaluated the carrier frequency for spinal muscular atrophy (SMA), a recessive and fatal neuromuscular disorder, in a fertility clinic population. While ACMG recommends that carrier screening for SMA be offered routinely regardless of patient ethnicity, ACOG does not, citing the need for additional research. In this study, 63,080 patients from IVF centers were screened to identify copy number mutations in exon 7 of the Survival Motor Neuron 1 (SMN1) gene. SMA is caused by defects in the SMN1 gene.
The study’s key finding was:
- Good Start’s SMA test detected 1,067 carriers, suggesting a pan-ethnic carrier frequency of 1 in 59. This is comparable to previously reported carrier frequencies of SMA in the general population (1 in 54) and to observed frequencies of other prevalent inherited diseases, such as cystic fibrosis.
“Spinal muscular atrophy is a devastating disease, though, to date, routine screening has not been widely recommended due to gaps in technological development and costs of testing. Our data demonstrate that the carrier frequency of SMA is relatively high, and with the widespread availability of SMA screening and the recent advances in testing and clinical knowledge, routine screening for SMA could really benefit both clinicians and patients,” Hardison added.