Session Abstract – PMWC 2021 Silicon Valley

Genetic testing has evolved over time and various applications have successfully made it into the clinical setting. While oncology applications are dominating, we also see a rise in genetic/genomic applications for reproductive health, CVD diagnosis, or early life understanding. Technological advancements are required to scale genetic testing applications delivery including relay of genomic information to clinicians and patients. In parallel to technological challenges, hurdles are also observed when it comes to insight/knowledge extraction, reporting of clinical findings, and scaling of genetic counseling. This track will touch upon these various aspects including successful precision medicine models through biopharma ventures for rare disease understanding and direct to consumer genetic testing.


Evolving Paradigms in Genetic Testing Initiated by Consumers
Paldeep Atwal, PWN Health

Models of Successful Precision Medicine through Biopharma Ventures in Rare Disease
Daniel Anderson, Invitae

Scalable Approaches to Relaying Genomic Information to Clinicians and their Patients
Steve Bleyl, Genome Medical

Increasing Access to Genomic Information in Reproductive Health and Early Life
Liza Kunz, Roche

Lessons Learned from Virtual Genetic Counseling
Peter Hulick , NorthShore

Sharing Insights On Reimbursement
Trish Brown, Illumina

 Session Chair Profile

Ph.D., Global Medical Affairs, Invitae

Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist who has helped shape professional practices and technology applications in clinical genetic testing over the past 15 years. He joined Invitae to help bring genetics into mainstream medicine by innovating laboratory technologies, fostering advances in evidence-based clinical standards, and building mechanisms to empower individuals globally to access their genetic information. Before Invitae, Swaroop was VP and senior laboratory director for Neurogenetics and Clinical Microarrays at GeneDx. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. Over the course of his career, he has participated in the international Human Genome Project to sequence the X chromosome and helped characterize several genetic disorders. He is currently a ClinGen investigator, serves on the Board of Directors of the American Board of Medical Genetics and Genomics, and is an adjunct clinical associate professor at Stanford University School of Medicine.

 Speaker Profile

M.D., Medical Director, Genetics, PWN Health

Dr. Atwal is a board-certified clinical and medical biochemical geneticist. Previously he served as Medical Director for the Individualized Medicine Clinic at Mayo Clinic FL on the Jacksonville campus. He received his medical degree from the University of Glasgow, and initially trained in hospital internal medicine with The Royal College of Physicians at Glasgow Royal Infirmary in Scotland. He completed his genetics fellowship at Stanford University and sub-specialty biochemical genetics fellowship at Baylor College of Medicine. He holds diplomas in structural molecular biology and forensic medical science and an MBA specializing in healthcare administration. Dr. Atwal’s clinical interests include clinical genomics, undiagnosed diseases following lengthy diagnostic odysseys and inborn errors of metabolism. Through his work, he co-led the discovery of biparental mitochondrial inheritance in humans, discovered two new genetic connective tissue syndromes that results from defects in the FLNA & AEBP1 genes, co-developed an untargeted metabolic screening test for inborn errors of metabolism, and published extensively on human genetics, with over 70 peer-reviewed publications to date.

 Speaker Profile

Head of Partnerships, Invitae

Daniel leads the Partnerships group at Invitae where he is responsible for building the network of programs with biopharma companies. Prior to joining Invitae, he worked in J.P. Morgan’s healthcare investment banking group where he advised biotech and medtech companies on M&A, capital raising and other strategic transactions. Daniel started his career at the management consulting firm ZS Associates where he specialized in addressing healthcare sales and marketing issues. Previously, he worked in South Africa and Tanzania to expand access to vaccination programs. Daniel lives in Denver, Colorado with his wife, daughter and son.

 Speaker Profile

M.D., Medical Director, NIPT/Women's Health, Roche

Dr Kunz serves as a medical expert in both NIPT and other aspects of Women’s Healthcare in her role at Roche Sequencing, driving the adoption of diagnostics through the education and communication. Board certified in both Obstetrics and Gynecology and Maternal-Fetal Medicine, she maintains a clinical practice at Palo Alto Medical Foundation, where she previously served as founding partner of the Maternal-Fetal Medicine Division, Director of Maternal-Fetal Medicine and Service Line Director for Women’s Health. She completed her medical school at the State University of New York at Stony Brook, residency at Albert Einstein College of Medicine, and fellowship at the University of California, Davis. Her interest in Maternal Child Health took shape during undergraduate studies in Public Policy with a concentration in Health Care at Stanford University. Dr Kunz is grateful for the opportunity to speak daily for the needs of clinicians and patients in her role at Roche.

 Speaker Profile

M.D., Ph.D., Genome Medical Services, Genome Medical

Dr. Bleyl has served as CMO at Genome Medical since January of 2017 guiding development of the organization’s clinical care processes in its vision to bring genomics to everyday care. Dr. Bleyl is a board-certified in medical genetics with a doctorate degree in human genetics and his background spans experience in molecular biology, experimental embryology, clinical care and administrative oversight of clinical services across an integrated health system. He maintains an academic affiliation as an adjunct Associate Professor at the University of Utah where his clinical practice focuses on cardiovascular genetics with a pediatric emphasis. Prior to this role he directed the Clinical Genetics Institute (CGI) for Intermountain Healthcare where he oversaw provision of genetic services, implementation of rapid exome sequencing in neonates, deployment of a Genetic Testing Stewardship Program and development of a system-wide infrastructure for storage and use of genomic data.

 Speaker Profile

M.D., FACMG, Medical Director, Mark R. Neaman Center for Personalized Medicine, NorthShore University HealthSystem

Dr. Hulick is the Medical Director of the Mark R. Neaman Center for Personalized Medicine and Division Head for the Center for Medical Genetics at NorthShore University HealthSystem, which applies genomic information to prevention, diagnosis and treatment of human disease with the vision to bring genomics guided care to every patient and their family. He joined NorthShore as an attending physician in medical genetics in 2008 and became Division Head of Medical Genetics in 2012. Dr. Hulick also serves as a Clinical Assistant Professor in the Department of Human Genetics at the University of Chicago Pritzker School of Medicine. Previously, he served as an attending physician in medical genetics at Massachusetts General Hospital. Dr. Hulick earned his medical degree from Jefferson Medical College in 2001. He completed a residency in internal medicine at St. Luke’s Hospital – Mayo Clinic, and completed a clinical fellowship in medical genetics at Harvard Medical School.

 Speaker Profile

Director, Payer Partnerships and Field Market Access, Illumina

Trish Brown is a genetic counselor with over two decades of experience in clinical genetics. She is currently the Director, AMR Payer Partner & Field Market Access Lead at Illumina, leading the efforts for third party payer reimbursement of genomic testing in North and South America. Ms. Brown is experienced in commercialization of genomic tests, operations, and lab benefit management. Prior to joining Illumina, she has held executive leadership roles at distinguished corporations such as LabCorp and Medco, and the entrepreneurial successes DNA Direct, Fabric Genomics and BeaconLBS.

The Genomics Reimbursement Landscape In The US
The primary question physicians and patients have about genetic testing is “will it be covered?” This presentation will review the coverage status of common tests and utilization based on claims data. Barriers to reimbursement, and possible solutions, will be discussed.