Groundbreaking PGT-A Genetic Test Research Receives Prestigious Investigator Achievement Award

Fertility and Sterility Journal Recognizes Outstanding Scientific Paper Authored by RMA Fellow in Collaboration with Juno Genetics

The top journal in the field of reproductive medicine, Fertility and Sterility, has named Julia Kim, MD, winner of its 2022 Investigator Achievement Award. Dr. Kim is first author of a landmark study on preimplantation genetic testing for aneuploidy (PGT-A). The research was conducted in collaboration with Juno Genetics during her fellowship at Reproductive Medicine Associates (RMA), part of the IVIRMA fertility network. The prestigious award recognizes an exceptional paper in which the first author is less than five years out of fellowship training or less than 35 years old. The award was recently presented to Dr. Kim at the American Society for Reproductive Medicine (ASRM) Scientific Congress in Anaheim, California.

The study, “The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTSeq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy,” was Dr. Kim’s thesis project and utilized Juno Genetics’ PGTSeq assay. The results of 300 initial clinical-grade biopsies from blastocyst embryos were compared with those from subsequent rebiopsies of those embryos. The study assessed the reproducibility of the clinical result as an indicator of test accuracy. For both normal (euploid) and abnormal (aneuploid) results, nearly 100% concordance was demonstrated. Conversely, when initial biopsy results were predicted to be mosaic – in which the number of copies of a chromosome is between normal and abnormal, a result that causes uncertainty for clinicians and patients – rebiopsies showed poor reproducibility, with only 2% of embryos showing full mosaicism. This data illustrates the low predictive value of an initial mosaic diagnosis and questions the clinical utility of mosaicism reporting, an important consideration for patient care.

“It is an honor to receive this award from Fertility and Sterility,” said Dr. Kim. “The research for which I am receiving the award would not have been possible without the combined efforts of an incredible team at IVIRMA and Juno Genetics. Our findings further endorse PGTSeq as one of the most validated PGT-A platforms in embryo genetic testing.”

Dr. Marie Werner, a former RMA fellow who was recently appointed the new director of its fellowship program, added, “We are proud to celebrate and share in Fertility and Sterility’s recognition of Dr. Kim’s ground-breaking work in collaboration with Chaim Jalas and the Juno Genetics team during her time as a fellow at RMA.”

PGT-A is performed on thousands of IVF cycles in the U.S. each year and the process tests DNA from just a few cells from the developing embryo. Because the results are used to make clinical decisions regarding which embryos are transferred and which are discarded, utilizing a test that accurately predicts the clinical outcome is key to realizing the benefits of PGT-A. However, nearly every PGT laboratory uses a custom test assay and each lab is independently responsible for demonstrating that their assay has been properly validated. Juno’s PGTSeq is the only PGT-A test currently in use with published prospective, non-selection validation data supporting it. Juno’s groundbreaking 2020 study “A multi-center, prospective, blinded, non-selection study evaluating the predictive value of an aneuploid diagnosis with PGT-A and the impact of biopsy,” demonstrated a nearly 100% positive predictive value of the PGTSeq platform in diagnosing embryos that are not expected to lead to a successful pregnancy, and was a finalist for the ASRM 2020 Prize Paper Award.

“Juno Genetics is honored to be recognized by Fertility & Sterility for our scientific contributions. We are setting rigorous standards for PGT quality and validation and are committed to ongoing research in embryo diagnostics,” stated Antonio Capalbo, PhD, Juno’s new Chief Genomics Officer. “Dr. Kim’s paper perfectly complements and builds upon Juno’s other industry-leading publications on PGT-A, providing further compelling evidence about PGT-A accuracy when properly handled and validated in preclinical and clinical studies.”

Chaim Jalas, the COO and Director of Technology Development at Juno and senior author on the study, added, “Completing proper analytical and clinical validations of individualized laboratory PGT-A assays prior to clinical use is one of the most critical and underrecognized components of responsible use of testing in IVF programs. Without diligent attention paid to this step, the positive and negative predictive values of the PGT-A results cannot be accurately assessed. This information is critical for evidence-based counseling and patient care.”

Mosaic Research Presented at ASRM

At the 2022 ASRM conference, the RMA and Juno teams also presented the largest blinded non-selection outcome data set on the transfer of putative mosaic embryos. Dr. Pavan Gill, current RMA fellow, presented clinical outcome data from almost 5000 embryos transferred with mosaic PGT-A findings masked. Embryos testing negative for whole chromosome aneuploidy on the PGTSeq assay, including those with mosaic findings, were classified as being suitable for transfer; therefore, embryos were selected for use without knowledge of their potential mosaic status. Sustained pregnancy rates were not statistically different between embryos with and without putative mosaic findings, supporting the notion that mosaicism predicted by PGT testing may be a benign finding without known clinical utility. The study results suggest that by clinically reporting mosaic findings and thereby limiting the transfer of such embryos, embryos with good reproductive potential are being unnecessarily deprioritized or even excluded from patient use, a practice that may limit patients’ chances for success through IVF.

“Juno Genetics is the only lab that has thoroughly and prospectively evaluated the clinical significance of all types of mosaic PGT-A findings. We are proud to be an international leader in embryo diagnostics and reproductive genetics,” said Jalas. Capalbo added, “we are also proud that our research and efforts will contribute to significant advancements in scientific guidelines and recommendations from relevant societies in the field of reproductive medicine, ultimately improving treatment outcomes of infertile couples undergoing IVF.”

Reproductive Medicine Associates (RMA) has been helping build families through the most advanced treatment options and patient-centered fertility care for over 20 years. RMA is a leader in IVF research, pioneering the Single Embryo Transfer (SET), increasing safety for mom and baby and Pre-Implantation Genetic Testing (PGT-A), dramatically increasing successful outcomes. With access to practices nationwide, RMA has helped welcome over 50,000 babies into loving families. Learn more at rmanetwork.com.

Our mission is to provide evidence based, clinically useful information of the highest quality for patients who are undergoing fertility treatments. Juno genetics is dedicated to advancing knowledge and enhancing outcomes in embryonic research, diagnosis, and education. Learn more at www.junogenetics.com.