Bringing CNS Members Together to Make Children’s Lives Better


March 29 Webinar: Expanded Carrier Screening in the NGS Era

Tuesday, March 29, 2022 (5:30pm – 7:00pm EDT)

Session Organizer:

Vinodh Narayanan, MD
Medical Director Center for Rare Childhood Disorders, TGen Phoenix, AZ

Course Description:

Advances in genome sequencing methods have completely revolutionized our approach to diagnosis in children with neurological disorders suspected to have a genetic basis. We are entering the era of genetic therapies – FDA has approved use of disease modifying oligonucleotides for DMD and SMA, and even gene replacement therapy for SMA. Many more gene therapies are being developed (MLD, ALD, etc.) The cost of such genetic therapies is incredibly high (in the millions of dollars) and such therapies mainly stabilize disease, rather than reverse effects of disease.

Carrier screening (including pre-conception screening of couples) has been utilized in specific populations to reduce the incidence of specific disorders – Tay-Sachs disease and Canavan’s disease in Ashkenazi-Jewish population, for instance.

In this Webinar, we will discuss the use of genomic methods for genetic screening in couples, as an approach to counsel them about the risk of inherited genetic disease. We will (a) review the history of expanded carrier screening; (b) discuss technical issues and obstacles to using genomic methods for pre-conception genetic testing; and (c) discuss ethical and moral issues that need to be addressed when counseling couples.

Topics & Speakers:

Introduction: Clinical Perspective – genetic screening to prevent disease
Vinodh Narayanan, MD
Medical Director
Center for Rare Childhood Disorders, TGen,
Phoenix, AZ

Expanded Genetic Screening – a historical perspective
Wayne W. Grody, MD, PhD
Professor of Human Genetics and Pediatrics
UCLA College of Medicine Los Angeles, CA

WGS for Genetic Screening – Technical Challenges
Szabolcs Szelinger, PhD
Director of Genetics
Exact Sciences Corp.

Counseling couples about PGT – pre-conception genetic testing
Denise Perry, MS, CGC
Associate Director
Clinical Laboratory and Medical Genomics Research
Illumina, Inc.
San Diego, CA

Moderated Q&A
Moderator: Vinodh Narayanan, MD

Speaker & Organizer Brief Biographies

Vinodh Narayanan, MD is a child neurologist in Phoenix AZ. He also serves as Medical Director of the Center for Rare Childhood Disorders at TGen (The Translational Genomics Research Institute). His research is aimed at defining the genetic basis of rare disorders, understanding disease pathogenesis, and developing novel therapeutic approaches for selected neurological disorders.

Wayne W. Grody, PhD, MD is Professor of Pediatrics, Human Genetics, and Pathology & Laboratory Medicine at the UCLA School of Medicine. He is Director of the Molecular Diagnostic Laboratories and Clinical Genomics Center within the UCLA Medical center. He is one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for many agencies, and was the lead author of national guidelines for population genetic screening for cystic fibrosis and other disorders.

Szabolcs Szelinger, PhD is Associate Laboratory Director at Exact Sciences. Prior to that, he was at Ashion Inc and at TGen. His background is in NGS-based approaches with specific focus on rare Mendelian disease and cancer. Currently his work includes biomarker development, proficiency testing, variant detection and interpretation pipelines, and management of clinical trial referral programs.

Denise L. Perry, MS, CGC is a board-certified and licensed genetic counselor with thirteen years of experience. Ms. Perry’s clinical and research work to date has focused on the communication of genetic risk information, informed consent for clinical whole exome and genome sequencing, and exploring whole genome sequencing in the context of rare genetic disease and adult genetic disease screening. She is currently an Associate Director of the Clinical Laboratory and Medical Genomics Research at Illumina where she leads the interpretation and reporting team for clinical whole genome sequencing.

NOTE: CNS live-streamed webinars will be posted on the CNS website (“Craft” section), the week following original presentation.