Current State of Prenatal WES: Clinical Updates with Akila Subramaniam, MD, MPH

• Prenatal whole exome sequencing (WES) has the potential to improve prenatal genetic diagnosis. While there are multiple benefits of prenatal WES, the limitations and shortcomings of this technology should be recognized. This webinar provides an overview on the current state of prenatal genetic diagnostic testing, with a specific focus on prenatal WES. Specifically, this webinar will differentiate prenatal genetic screening and prenatal genetic diagnosis, describe the variety of genetic test that can be offered for prenatal genetic diagnosis (including their strengths and limitations), and conclude with a discussion on the data supporting WES, clinical considerations for its use, and societal recommendations for prenatal WES.

  Level of Instruction: Intermediate to Advanced

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Akila Subramaniam, MD, MPH | Presenter

Associate Professor in the Division of Maternal-Fetal Medicine (MFM)

Dr. Subramaniam is a tenured Associate Professor in the Division of Maternal-Fetal Medicine (MFM) with a secondary appointment in Medical Genetics and Genomics at the University of Alabama at Birmingham (UAB). She is the Vice-Chair of Education and the Bruce Harris Jr. Endowed professor in OBGYN. Dr. Subramaniam is currently the Director of the UAB OB/GYN Diagnostic and Research laboratory and the Program Director of the MFM fellowship. She also is PI of two multi-center childhood follow-up studies of the landmark Cesarean Section and Optimal Antibiotic Prophylaxis (C/SOAP) trial. With her broad background, Dr. Subramaniam’s clinical interests include fetal ultrasound, prenatal genetic diagnosis, and complicated obstetric surgery. Dr. Subramaniam received her BS degree in Management Science from the Massachusetts Institute of Technology. Shen then completed her MD and MPH at the Louisiana State University Health Sciences Center in New Orleans. After finishing residency in OB/GYN at UAB, she completed a combined fellowship in MFM and Medical Genetics and Genomics. Dr. Subramaniam is board certified in Obstetrics and Gynecology and the subspecialty of Maternal Fetal Medicine (ABOG) and in Clinical Genetics and Genomics. She is currently a member of the American Board of Medical Genetics and Genomics as well as on the Editorial Board of the journal Obstetrics and Gynecology.

Jessica Gage, MS, CGC | Moderator

Genomic Science Liaison - Cardio/Rare Disease

Jessica Gage joined Ambry Genetics in 2016 as a Cardio & Rare Disease Genomic Science Liaison. In her role, she serves as a clinical liaison for the field team to educate healthcare providers and key opinion leaders on genetic testing and genomic medicine. Jess received her Bachelor of Science degree in biology with a minor in psychology at Penn State University. She received her Master of Science degree in Genetic Counseling at California State University- Stanislaus and is certified by the American Board of Genetic Counseling.