201810 Technologies to Advance Precision Medicine Diagnosis and Treatment of Infertility, Reproductive Tract and Gynecologic Disorders Affecting Fertility

Program seeks Council approval for an initiative titled, “Technologies to Advance Precision Medicine Diagnosis and Treatment of Infertility, Reproductive Tract and Gynecologic Disorders affecting Fertility.” Multiple genomic, epigenomic, proteomic, metabolomic and disease specific biomarkers are being discovered in reproductive medicine. The application of precision medicine to reproductive care holds promise to optimize diagnosis, facilitate targeted treatments and improve patient outcomes.

Delays in diagnosis, particularly in adolescents, have been identified for several conditions such as polycystic ovary syndrome and endometriosis, both of which are associated with infertility.  The development of technological applications combining genomic and biomarker discoveries could hasten diagnosis and treatment.  Identification of genomic markers associated with reduced efficacy of ovarian stimulation could guide clinicians to skip certain treatments in at-risk individuals.  Moreover, testing for genomic markers of differential treatment response to fertility medications may lead to more individualized prescription and tailoring to reduce the complication of hyperstimulation, thereby improving safety.

The goal of this initiative is to improve accuracy and safety of diagnostic evaluation and treatment of infertility by stimulating the small business community through the Small Business Innovation Research (SBIR) grant program to adapt discoveries in genomics, epigenomics and biomarkers to the clinical diagnosis and treatment of couples with infertility. This initiative would encourage businesses to collaborate with scientists and clinicians in the fields of female and male reproductive medicine, infertility, andrology, and/or gynecology to develop and validate new procedures, assays, digital apps, devices or technologies to advance precision medicine as applied to clinical issues affecting reproduction.

A meeting emphasizing genomic approaches to advance health, Genomic Medicine for Reproductive, Prenatal and Neonatal Health, sponsored by NICHD and NHGRI was held in April 2018. This initiative targets a specific clinical area that would benefit from application of discoveries in genomics that have already been made.

Program Contact

Esther Eisenberg
Fertility and Infertility Branch

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