Diagnostic Exome Sequencing: Cost-Effectiveness and Exome Health Plan Coverage with Nancy Niguidula, DPH

• Diagnostic whole exome sequencing (WES) leads to a definitive genetic diagnosis for Mendelian disorders more rapidly and cost-effectively than traditional clinical practice, ultimately providing better patient care and cost savings to the healthcare system. This presentation will define the type of patients that benefit from WES by summarizing the studies that demonstrate a high diagnostic yield. We will review the current health plan coverage and the publications that validate the economic utility of WES. Utilizing WES as a first-tier diagnostic tool could eliminate the expensive, time-consuming, and potentially invasive diagnostic odyssey that burdens the patients, their families, and the healthcare system.

  

  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.

Nancy Niguidula, DPH | Presenter

   

Nancy Niguidula, MS, DPH has a Doctorate in Public Health in Toxicology (Columbia University). Prior to receiving her graduate degrees, she managed an exposure assessment laboratory determining the association between organochlorine exposure and breast cancer risk. As a doctoral student in the environmental health sciences, she evaluated the pharmacogenetic factors that influence exposures to DNA mutagens. This led to a position developing and validating genetic tests for OHSU’s diagnostic laboratory. For the past ten years, she worked as a freelance medical writer for various medical communication firms. She joined Ambry in 2016 as a medical writer developing dossiers to educate health plans about genetic testing and improve reimbursement rates.

Greg Nogle | Moderator

   

Greg Nogle is the Director of Payor Relations and Managed Care for Ambry Genetics and is responsible for coverage, contracts and payor reimbursement for molecular tests. He has been in this position at Ambry for two and half years but has over 20 years in the market access and reimbursement space including medical device, diagnostics and other ancillary services.  In addition, he has an extensive experience in provider contracting in multiple ACO, MCO, GPO and third party payor environments.