Grand Rounds: Diagnostic Advances in Reproductive Medicine through Genomics
Presented by Aleksandar Rajkovic, M.D., University of Pittsburgh, Magee Womens Research Institute
The American Board of Obstetrics and Gynecology has developed guidelines for learning for the subspecialty of reproductive endocrinology and infertility (REI). These guidelines specify that training should include information on clinical diagnostic techniques. This internet activity is designed to provide such training to reproductive endocrinology and infertility fellows as well as other practitioners of reproductive medicine.
At the conclusion of the educational activity, participants should be able to:
- Explain how new genomic tools have allowed us to analyze many genes in a single assay.
- Summarize the process for detecting carriers for vast majority of Mendelian disorders.
- Describe the utility of diagnostic exome sequencing in reproductive medicine for developmental disorders.
- Discuss the ethics of incidental findings and physician obligations.
- Discuss the use of population-based genomic screening in diagnosing high penetrance disorders.