GenePeeks, Inc. and Reproductive Medicine Associates of New York have announced their collaboration and the start of patient recruitment for a study evaluating the clinical performance of GenePeeks’ pre-conception risk prediction technology in comparison to expanded carrier screening. The study was launched to assess GenePeeks’ innovative approach to enhancing the current carrier screening paradigm, in an effort to decrease a future child’s risk for inheriting severe autosomal recessive diseases.
The study will enroll up to 200 patients and evaluate the effectiveness of GenePeeks technology in identifying risk of conceiving a child that could be affected by more than 1,000 severe pediatric diseases. After participants’ saliva samples are collected and sequenced using a next-generation sequencing platform, reproductive risk will be analyzed using these two different approaches: expanded carrier screening versus GenePeeks’ analytics. Investigators will compare the accuracies of the resulting risk profiles.
“We look forward to a rigorous examination of our predictive technology,” said Lee Silver, Ph.D., Co-founder of GenePeeks, Inc. and Professor of Molecular Biology at Princeton University. “This study will allow us to demonstrate the advantages of our approach, which aims to give families access to the incredible advances in human genomics that have occurred over the past decade.”
All people carry silent disease mutations that do not cause disease unless combined with another mutation in the same gene through the reproductive process. Carrier screening involves analysis of each prospective parent’s individual carrier status to determine whether they carry any of a predetermined list of genetic mutations. However, the existing focus on a relatively small number of historically observed “knock-out” mutations means that the vast majority of disease-causing mutations remain undetected in the carrier screening process.
In contrast, GenePeeks digitally combines the DNA information of prospective parents to create “Virtual Progeny” and evaluates their risk for more than 1,000 recessive genetic diseases associated with a wide variety of known and novel mutations that cause a spectrum of damage to the underlying gene. The company’s proprietary technology uses patented informatics to uncover disease risk that cannot be seen with existing screening tools.
“We are committed to providing highest-quality care for patients seeking reproductive assistance, and we are particularly interested in scientific advances that help protect families from serious diseases,” said Dr. Alan B. Copperman, Co-Director of RMA of New York. “We are pleased to collaborate with GenePeeks to evaluate the most effective methods for determining disease risk so our patients can make informed decisions about building families.”