Expanded Newborn Screening by Whole-Genome Sequencing — Opportunities & Challenges in Bringing This Service to New Parents
In this roundtable discussion, a panel of academic, commercial, and interested advocates will discuss the challenges and opportunities of providing expanded newborn screening by whole-genome sequencing to newborns. The panel will discuss the regulatory environment, design of service, response by physicians, response by parents, data management, and opportunities for “sequence once, re-analyze often” approaches.
Attendees will learn how current products are designed and commercialized today using a network of stakeholders to assure quality of service. In addition, parent advocates will discuss opportunities to limit diagnostic odyssey and how expanded newborn screening could help parents in the future.
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Crean holds FINRA Series 79 and Series 63 licenses and is a registered investment banking representative of BA Securities. He holds a doctorate in biophysics and a Master of Science degree in oncology from the State University of New York at Buffalo. He earned a Bachelor of Science degree in biology/pre-med from Canisius College. Additionally, Crean holds a Master of Business Administration degree with a finance concentration from Pepperdine University Graziadio School of Management.
Bainbridge’s analytic tools were central to the analysis of one of the first personal genomes used for medical diagnostics [Lupski]. Later, he led the team that discovered the molecular cause of DRD in siblings. This information was used, for the first time, to alter the management and medications the children received. Later, he used whole-exome sequencing (WES) to find a novel gene for a previously undescribed disease, marking one of the first times WES was used to molecularly describe a disease before its clinical description.
Fabre resides in Sarasota, Florida with her two children. She is formerly from northern New Jersey. Fabre’s professional background involved working extensively with CEOs, corporate marketing, and assisting with acquisitions for a publicly traded company. Little did she know her research abilities, attention to detail, and unrelenting determination to complete projects in business would prepare her for a career she never imagined she’d have. Being an advocate gives a sense of purpose to the unforeseen turn her life took.