The Future of Genetics in Reproductive Medicine: Filling in the Gaps Beyond Aneuploidy and Carrier Screening
19 Mar 2025
Clinical Genetics and Therapeutics
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Accredited:
- Accredited
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Primary Categories:
- Prenatal Genetics
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Secondary Categories:
- Prenatal Genetics
Genetic screening and genetic testing are being offered in reproductive and prenatal medicine at an exponential rate. While an exciting time for the fields of Reproductive Endocrinology and Infertility (REI) and Medical Genetics, there are few healthcare professionals adequately trained to assess the clinical utility and validity of available screening methods offered to patients. There are several examples of genetic screening assays implemented into the practice of REI without evidence of improved outcomes and/or screening accuracy. This is in large part due to the lack of involvement of genetics healthcare professionals in the care of REI patients, highlighting the need for clinicians with experience in both genetics and reproductive medicine to ensure appropriate implementation and interpretation of various genetic testing/screening modalities going forward.
This session will focus on identifying historical and current gaps in the training and practices of REI and Medical Genetics, and will propose solutions for multidisciplinary training of clinicians to improve patient care. Our panel of speakers from various disciplines will highlight the history of genetic screening in REI and common misconceptions, research advancements and limitations in the field, and bidirectional gaps in the current training of Medical Geneticists, Genetic Counselors, and REI Specialists. Presentations will include:
This session will focus on identifying historical and current gaps in the training and practices of REI and Medical Genetics, and will propose solutions for multidisciplinary training of clinicians to improve patient care. Our panel of speakers from various disciplines will highlight the history of genetic screening in REI and common misconceptions, research advancements and limitations in the field, and bidirectional gaps in the current training of Medical Geneticists, Genetic Counselors, and REI Specialists. Presentations will include:
- Ruth Lathi, MD (OB/REI) from Stanford University to discuss the history of PGT-A, the need to better assess genetic screening/testing of embryos going forward, and her enrolling study to assess outcomes of Transfer of Aneuploid and Mosaic Embryos (TAME).
- Ignatia Van den Veyver, MD (OB/MFM/Genetics) from Baylor College of Medicine to discuss advancements and limitations to research in the field of reproductive genetics and genetic assay modalities on the horizon.
- Kamaria Cayton-Vaught, MD (OB/REI/Genetics) from Johns Hopkins University to discuss gaps in the current training of Medical Geneticists, Genetic Counselors, and REI Specialists and various solutions to address the need for clinicians with understanding of both genetics and REI.
- A Genetic Counselor will discuss training and practice gaps among Genetic Counselors in regards to caring for patients and families with reproductive genetics conditions, separate from prenatal genetics, and ways to address the need for more trained Genetic Counselors to provide accurate counseling and interpretation of various new screening and testing methodologies.
- Christina Tise, MD, PhD (Pediatrics/Genetics) from Stanford University to discuss the development of a Reproductive Genetics Clinic to care for patients with reproductive phenotypes and complex REI patients, while also serving as an elective for trainees to gain exposure to the field of Reproductive Genetics.
- Susan Klugman, MD (OB/Genetics) from Montefiore Einstein to discuss the creation and utility of a multidisciplinary REI Ethics Rounds and provide a call to action for increased awareness of the role of Medical Geneticists in the field of REI and reproductive medicine across the country.
Learning Objectives
- Evaluate the history and impact of prior genetic testing/screening implementation in reproductive medicine
- Summarize research advancements and limitations in reproductive genetic screening and assays in development
- Identify knowledge gaps in the current training of Medical Geneticists, Genetic Counselors, and REI Specialists
- Examine the utility and training value of multidisciplinary clinics for individuals with reproductive phenotypes
- Formulate ways to address the need for clinicians with understanding of both genetics and REI
Agenda
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Development of a Reproductive Genetics Clinic: Who, What, When, and How?1:30 PM – 1:35 PM -
Important Perspectives Gleaned from Multidisciplinary REI Ethics Rounds1:35 PM – 1:50 PM -
Curriculum Gaps in the Training of Healthcare Professionals Caring for Medical Genetics and REI Patients1:50 PM – 2:05 PM -
History and Quick Adoption of PGT-A in REI: Lessons to Remember Going Forward2:05 PM – 2:20 PM -
Clinical and Research Assays in Development for Prenatal and Reproductive Genetic Screening and Testing2:20 PM – 2:35 PM -
Panel DiscussionPanel discussion and Q&A2:35 PM – 3:00 PM
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