Session Synopsis: The clinical NGS workflow is complex in nature, spanning sequence data generation, data management, data analysis and interpretation, as well as reporting of the actionable findings. Building the right solution requires a good understanding of the processes to be supported and the needs to be addressed for individual constituents. In this session we will hear about some of the solutions that are available today as well as the perspective of a genetic counselor, an important stakeholder who adds value toward the end of this workflow.
Session Chair Profile
MBA, CEO, Omicia
Matt Tindall has more than two decades of healthcare experience spanning general management, corporate development, strategy consulting, digital marketing and commercial operations. Prior to Omicia, he served as the general manager of the Consumer Solutions division of IMS Health, a leading global information and technology services company in the healthcare industry. Matt was VP Marketing at Digitas Health New York, worked in strategic business development for Celera Genomics, led a cardiovascular business development team focused on the development of novel gene therapy, cell therapy and biomaterial products at Genzyme Corporation and co-founded and managed the start-up biopharmaceutical company Sarentis Therapeutics. Matt received his B.S. in Human Physiology from Lyman Brigg’s College at Michigan State University and his M.B.A. from the University of Texas at Austin.
Scaling Clinical NGS: From Panels to Exomes to WGS
Advances in NGS technologies coupled with decreased cost are opening the doors to broad genomic applications in the clinic. Thus, Clinical NGS testing is expanding from panels to exomes to whole genomes. Interpretation and reporting capabilities in conjunction with advanced computational algorithms are required to successfully maximize diagnostic outcome.
MS, LCGC, Lead Genetic Counselor, Cancer Genetics and Genomics, Stanford Healthcare Clinical Assistant Professor (Affiliated) of Pediatrics (Genetics) Stanford University
Kerry E. Kingham, M.S., C.G.C., is Lead Genetic Counselor for the Clinical Cancer Genetics Program and Clinical Assistant Professor of Pediatrics at Stanford University School of Medicine. Ms. Kingham received her master’s degree in Health and Medical Sciences from the University of California at Berkeley and is board certified and licensed in genetic counseling. She provides hereditary cancer risk assessment for patients, focusing on personalized approaches to cancer prevention and early detection. Ms. Kingham serves as a clinical supervisor and admissions committee member for the Stanford Master’s Degree program in Genetic Counseling and lectures frequently to genetic counseling and medical students. She is also involved in research on the clinical implementation of emerging genetic sequencing technologies, with a focus on the role of genetic counseling.
Genetic Counseling in the Clinic: Navigating and Translating Complex Results for the Patient
Genetic testing has become more accessible to patients as test costs have decreased and patient awareness of testing has increased. What does a genetic test mean for a patient? Genetic test results can affect the patient’s direct medical care and that of their family members. A genetic counselor’s role in this process is explained as well as the impact this may have on patients and their families.
Ph.D., Director Customer Operations, Bluebee
Craig is the Director Customer Operations for North America at Bluebee, a leading provider of high-performance genomics solutions. Craig is responsible for implementation of customer solutions along with presales and post sales technical support. He has over 15 years of experience in the genomics industry in technical and management roles. Prior to joining Bluebee he was the Manager of Technical Solutions at Core Informatics a top LIMS and data management company. Other roles include Life Sciences Director for Hitachi Data System, Principal Scientist at PerkinElmer, and technical roles with several other genomics software and solutions providers.
Bringing NGS Analytics from Research to the Clinic
Many NGS applications related to diagnostics and rare disease, with actionable insights, are finding their way into the clinic. This poses many hurdles around regulatory requirements, privacy issues, and scalability that must be addressed. We will share our insights in ways to ease the journey from research to the clinic.