Exome Sequencing as a First Tier Test for Congenital Anomalies or Neurodevelopmental Disorders with David Miller, MD, PhD

In this webinar, you will learn how to:
- Summarize the types of patients typically seen in clinical genetics practice, and the types of genetic alterations that cause both rare genetic syndromes and non-syndromic neurodevelopmental disorders
- Compare and contrast genetic testing methodologies, including diagnostic yield for different tests in these patient populations
- Identify workflows and potential challenges for clinical implementation of exome sequencing as a first tier test in these patient populations

David Miller, MD, PhD | Presenter

Director, Neurofibromatosis Program, Boston Children's Hospital; Assistant Professor, Harvard Medical School

David T. Miller, MD, PhD, FAAP, FACMG is an Associate Professor of Pediatrics at Harvard Medical School and Director of the Multidisciplinary Neurofibromatosis (NF) Clinic and NF Research Initiative (NFRI) at Boston Children’s Hospital. Dr. Miller is a practicing Medical Geneticist, both in direct patient care and laboratory genetics. His clinical, research, and teaching activities are focused on clinical expertise and innovation in delivering clinically effective and appropriate diagnostic genetic testing services. He has led or served on several national committees and advisory boards focused on best practices for clinical genetics and genetic testing, including: Co-Chair of the ClinGen Gene Curation Expert Panel for Autism and Intellectual Disability; Chair of ACMG’s Professional Practice and Guidelines Committee; Co-Chair of ACMG’s Secondary Findings Maintenance Working Group; Member of ACMG’s Evidence-Based Medicine Working Group; Member of ACMG’s Topic Selection Committee. He currently serves as Deputy Editor of Genetics in Medicine.

After receiving his MD and PhD from Washington University School of Medicine in St. Louis, he completed a residency in Pediatrics at Yale-New Haven Hospital, and residency/fellowship in Medical Genetics and Clinical Molecular Genetics at Harvard Medical School. He is board-certified in Clinical Genetics and Clinical Molecular Genetics.

Brooke Overstreet, MS, CGC | Moderator

Genomic Science Liaison, Ambry Genetics

Brooke Overstreet earned her M.S. in Genetic Counseling at the University of Cincinnati and also holds an M.S. in Molecular and Cellular Biology from the University of Arizona. Prior to becoming a genomic science liaison at Ambry, she worked as a clinical genetic counselor at Mayo Clinic in Arizona and counseled patients for oncology, neurology, cardiology and healthy exome. Mrs. Overstreet is a member of the National Society of Genetic Counselors (NSGC) and is board certified by the American Board of Genetic Counseling (ABGC).