Reproductive Genetic Innovations is an internationally recognized industry leader in Preimplantation Genetic Testing with over 30 years of experience. RGI was one of the first labs worldwide to perform preimplantation genetic diagnosis (testing), successfully diagnosing cystic fibrosis in 1990. In order to accomplish this, specific technologies were developed by our scientists, and communicated by our physicians and certified genetic counselors. RGI scientists and physicians have published our experience in numerous books and scholarly articles. These books and accompanying presentations are intended to share our laboratory and clinical methods as well as to facilitate training for other groups.
RGI has performed PGT in over 25,000 cycles. This includes an estimated 7,500 cycles for over 646 different monogenic disorders, the largest testing catalog in the world. Our experience in PGT-A (chromosomal abnormalities) is even larger, approximating 16,000 cycles. The remaining cases are made up of PGT-SR and PGT-HLA. At present, RGI recommends PGT-M be accompanied by PGT-A.
RGI scientists developed many of the methods that allowed us to achieve these numbers. These methods are now routinely applicable world-wide to the many different single gene disorders tested. Patient-specific DNA markers that enabled PGT accuracy to be nearly 100% for single gene disorders were developed by our Lab Director, Dr. Rechitsky. Applying this approach allowed HLA status to be determined for a given embryo. Selecting an embryo whose HLA status is compatible with a previously born sibling affected with a bone marrow-related disorder sets the stage for stem cell umbilical cord/stem cell transplantation that can be life-saving for the previous and affected sibling. RGI has performed over 500 such cases. RGI also developed methods to offer PGT when only a single family member had a disorder for which embryo selection was desired. Before this, multiple affected family members were necessary to generate a clinically applicable strategy. Instead, single sperm analysis can point out embryos for selection that avoids transmission of a heritable mutation.
These and other advances are provided in detail for global application, both in books and peer-review scientific and educational publications in prestigious journals. Listed below are selected contributions by the RGI staff.