Session Abstract – PMWC 2022 Silicon Valley

Track Chair:
Swaroop Aradhya, Invitae

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.


  • The Path to Universal Newborn Sequencing and Disease Prevention
    - Robert C Green, Harvard
  • Intro to Genetic Testing Applications
    - Swaroop Aradhya, Invitae
  • Evolving Paradigms in Genetic Testing Initiated by Consumers
    - Paldeep S. Atwal, PWN Health
  • Models of Successful Precision Medicine through Biopharma Ventures in Rare Disease
    - Daniel Anderson, Invitae
  • Pairing Somatic Cancer Testing with Germline Testing
    - Ed Esplin, Invitae
  • Scalable Approaches to Relaying Genomic Information to Clinicians and their Patients
    - Steven Bleyl, Genome Medical
    - Cassie Hajek, Sanford Imagenetics
  • Lessons Learned from Virtual Genetic Counseling
    - Peter Hulick , NorthShore
  • Sharing Insights On Reimbursement
    - Ashley Arthur, Illumina

 Session Chair Profile

Ph.D., FACMG, Head of 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 continues to encourage broader and earlier use of genetics in medicine through innovations in laboratory technologies, improving evidence-based clinical standards in genomics, and building mechanisms to empower individuals to access their genetic information. Before Invitae, Swaroop was VP and Director of Neurogenetics and for Clinical Microarray Services 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 his career, he has contributed to the Human Genome Project, helped characterize several genetic disorders, and served on the Board of Directors of the American Board of Medical Genetics. He currently participates in the NIH ClinGen effort and is an adjunct Clinical Associate Professor of Pathology at Stanford University.

 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 Biopharma and Data Partnerships, Invitae

Daniel leads the biopharma and data partnerships efforts at Invitae where he is responsible for building the network of partners to improve the quality of healthcare for patients. 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. He also 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., Ph.D., Clinical Geneticist, Head of Clinical Studies and Information, Invitae

Dr. Esplin is board certified in clinical genetics and internal medicine with a focus on using comprehensive germline, ctDNA and solid-tumor somatic genomic information to provide cancer patients precision therapies and clinical trials access. This includes the landmark INTERCEPT study (universal germline testing in patients with all solid-tumor cancers) with the Mayo Clinic, which is expanding to generate and integrate somatic tumor testing for all INTERCEPT patients; the PROCLAIM study demonstrating the utility of universal genetic testing for prostate cancer; and the ARTEMIS study, in collaboration with ECOG-ACRIN and the University of Pennsylvania, integrating coordinated germline, liquid biopsy ctDNA and somatic solid tumor sequencing analysis for precision therapy in all patients with early stage pancreatic cancer. Dr. Esplin completed the MSTP program at UT Southwestern obtaining his MD and PhD in genetics. Clinical genetics training at Stanford University was followed by an NIH-funded Tashia and John Morgridge Endowed Postdoctoral Fellowship under Mike Snyder in the Stanford Department of Genetics, where he maintains an academic appointment. He is a fellow of the American College of Medical Genetics and Genomics (ACMG) and the American College of Physicians (ACP).

Integrating Germline, Liquid Biopsy and Cancer Tumor Testing
Comprehensive, coordinated integration of germline and somatic tumor genetic testing at the time of diagnosis, in combination with liquid biopsy screening and monitoring for disease, is crucial for efficient personalization of precision therapies and improving the early diagnosis, curative treatment and overall survival of patients with all forms of cancer.

 Speaker Profile

M.D., Ph.D., Chief Medical Officer, 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., Medical Director, Sanford Imagenetics

Cassie Hajek is a Sioux Falls, SD native. She completed undergraduate and graduate degrees in industrial engineering from the University of Michigan. Prior to entering medical school, she worked as a strategy consultant at the Boston Consulting Group. After graduating from the University of South Dakota School of Medicine, she completed Internal Medicine residency at Montefiore Medical Center in Bronx NY and Medical Genetics fellowship at the UCLA Intercampus Medical Genetics Program. She is responsible for leading the Sanford Imagenetics program which integrates genomics into the care of patients. Her team has successfully launched a preemptive genetic screening program, which utilizes genomic data for patient care in the primary care setting. These efforts included the design and launch of a system-wide education and return of results program. She also leads research efforts to study the health and economic outcomes of genetic screening, and development efforts for new applications of genomic medicine.

 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

Associate Director, US Market Access, Illumina

Ashley's work at Illumina is focused on increasing US payer coverage of NGS diagnostics and screening tests, particularly in the areas of rare disease, reproductive health, and oncology. With 15 years of experience in healthcare, Ashley previously held positions in sales, marketing, and market access at leading U.S. pharmaceutical companies and clinical laboratories, such as AstraZeneca, Counsyl (now Myriad Women's Health), and Invitae. Her unique background brings an understanding of the challenges facing stakeholders in the implementation of personalized medicine. Being part of a family impacted by rare disease, Ashley has a deeply personal passion for making personalized medicine part of routine clinical care.

Sharing Insights on Payer Coverage
Payer coverage is vital for personalized medicine to become part of routine clinical care. Over the last 5 years, payer coverage of NGS testing has grown tremendously. We will take a look at where coverage stands today and where it is moving in the years to come.

 Speaker Profile

M.D., M.P.H., Professor, Harvard Medical School

Dr. Green is Professor of Medicine (Genetics) at Harvard Medical School and a board-certified medical geneticist who directs the Mass General Brigham Preventive Genomics Clinic, the Genomes2People Research Program and the Precision Population Health Initiative at Mass General Brigham, the Broad Institute and Ariadne Labs. He has led policy development for returning genomic information to research participants within the Global Alliance for Genomics and Health, the Verily-Google Baseline Project and the 1 million participants All of Us Research Program. He is co-founder of Genome Medical, a technology and service platform delivering telegenetics expertise throughout the US. Dr. Green leads the BabySeq Project, the first research to provide empirical data on the clinical utility and cost-effectiveness of genomic sequencing in healthy newborn infants, with the goal of establishing a responsible path to achieve universal human sequencing.

The Path to Universal Newborn Sequencing
Universal newborn sequencing has been a futuristic vision for decades. Today rare genetic disorders are becoming increasingly preventable with gene-targeted therapies, but sequencing will be needed to detect them early. This talk presents empirical data from the NIH-funded BabySeq Project on the clinical utility and cost-effectiveness of comprehensive newborn sequencing in apparently healthy infants.