Molecular genetics information company, Good Start Genetics, Inc. has presented data from research being conducted to improve detection of inherited diseases, including cystic fibrosis (CF). The results of two studies that examined detection rates in patients undergoing in vitro fertilization (IVF) were presented at the 2015 Annual Clinical and Scientific Meeting of The American College of Obstetricians and Gynecologists (ACOG), which took place in San Francisco, California.
The results of the carrier screening for inherited diseases conducted by Good Start Genetics were presented in two posters, the first of them entitled “Carrier Screening with Next-Generation Sequencing Detects Common Uncommon and Novel Mutations.” The researchers analyzed 71,070 patients referred for carrier screening at U.S. IVF clinics using a next-generation DNA sequencing (NGS) platform designed to identify mutations.
Through the platform, Good Start Genetics expects to detect mutations responsible for 14 genetic diseases recommended for carrier screening by the ACOG, the American College of Medical Genetics and Genomics (ACMG) and the American Society for Reproductive Medicine (ASRM). The study revealed that the platform was able to identify between 15 and 26 percent of the 3,093 carriers, which are thought to be missed with traditional screening examination.
“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” stated the president and CEO of Good Start Genetics, Don Hardison in a press release.
The second poster presented the evaluation of carrier frequency for spinal muscular atrophy (SMA) and was entitled “Carrier Screening for Spinal Muscular Atrophy Among U.S. In Vitro Fertilization Patients.” The study demonstrated that while a different test designed to detect SMA was effective in 1067 carriers suggesting a pan-ethnic carrier frequency of 1 in 59, it may also be useful in other inherited conditions, such as CF.
Another study on the impact of CF in IVF procedures and outcomes, entitled “Female cystic fibrosis mutation carriers and assisted reproductive technology: Does carrier status affect reproductive outcomes?“ had already been undertaken by Celmatix, which is developing products that help to personalize the treatment for infertility and fertility. The authors concluded that there were no significant differences in stimulation response and cycle outcome between female CFTR mutation carriers and non-carriers.
Last July, the first baby conceived in Ireland using pre-implantation genetic diagnosis (PGD), a technique used to screen embryos for genetic mutations such as CF was born. Despite the fact that both of Bridget’s parents have genetics that when combined can lead to CF in their children, baby Bridget is healthy, marking a major milestone in reproductive medicine.