Genetics offers enormous promise for human health, and for enabling our healthcare system to deliver better outcomes and greater value. However, the practical barriers to integrating genetics into clinical care delivery are undeniable. Because genetics is inherently data-intensive, critical challenges relate to the data and digital infrastructure that span across research, care delivery, and payment.
At the most recent Genetic Health Information Summit, a group of leaders from across the healthcare ecosystem came together to discuss the shortcomings and potential improvements to the infrastructure connecting genetic information in healthcare. The group, which included health insurers, clinicians, hospital systems, researchers, policymakers, patient advocates, clinical laboratories, technology vendors, and drug developers, focused on five core issues:
- Genetic testing laboratory quality and patient safety;
- Clinical validity, utility, and value assessment at scale;
- Genetic test identification for market tracking, evidence-gathering, billing, and payment;
- Provider education, communication, and support at the point-of-care; and
- Patient access and control of genetic data.
The substance of this discussion was documented for a Whitepaper, which will be distributed to registrants in advance of the webinar, that details the challenges and specific potential solutions in each of these five areas.
In this webinar, the three lead authors of the paper discuss the key observations, most promising potential solutions, and most important next steps for the 2018 Genetic Health Information Network Summit (Oct 1-3, Nashville) and beyond.
For the past 15 years, Dr. Carlos Bustamante has led a multidisciplinary team working on problems at the interface of computational and biological sciences. Much of his research has focused on genomics technology and its application in medicine, agriculture, and evolutionary biology. His work has empowered decision-makers to utilize genomics and data science in the service of improving human health and wellbeing. As Inaugural Chair of Stanford’s new Department of Biomedical Data Science, his future goal is to scale these operations from focusing on researchers to consumers and patients, where he ultimately wants his work to have the greatest impact.
In 2017, Dr. Bustamante was appointed a Chan-Zuckerberg Investigator and, from 2011-2016, he was a MacArthur Fellow. He also received a Stanford Prize in Population Genetics and Society in 2016, a Sloan Research-Fellowship in Molecular Biology from 2007-2009, and a Marshall-Sherfield Fellowship from 2001-2002.
Dr. Bustamante also has a strong interest in building new academic units, non-profits, and companies. He is Founding Director (with Dr. Marcus Feldman) of the Stanford Center for Computational, Evolutionary, and Human Genomics (CEHG), and former Founding Associate Director of the Cornell Center for Comparative and Population Genomics (3CPG).
He serves as an advisor to the US federal government, private companies, startups, and non-profits in the areas of computational genomics, population and medical genetics, and veterinary and plant genomics.
Aspinall is a healthcare industry leader and pioneer committed to active civic involvement. She is Co-Founder and Managing Director of BlueStone Venture Partners, a firm investing in life sciences technology and innovation companies based in the US Southwest. She is also CEO of the Health Catalysts Group, an investment and advisory firm dedicated to the growth of health information technology and diagnostics firms, publishing the popular Health Catalysts Diagnostics Year in Review. She is a member of the Board of Directors of Abcam plc (ABC), Allscripts (MDRX), Orasure (OSUR), 3Scan, Blue Cross Blue Shield Arizona and Castle Biosciences.
As President and CEO of Ventana Medical Systems, a billion-dollar division of The Roche Group, Aspinall worked alongside her world-class team to lead the company to new financial success, more than two dozen major instrument and assay launches and global leadership in companion diagnostics.
Previously, she served as President of Genzyme Genetics and Genzyme Pharmaceuticals. Genzyme Genetics grew into the country’s leading diagnostic testing company and sold to LabCorp for $1 billion. Aspinall also founded On-Q-ity, a diagnostic company dedicated to circulating tumor cells.
A leader in educating payers and policymakers on personalized medicine, she served on the Health and Human Services Secretary’s Advisory Council on Genetics, Health & Society (SACGHS) in the Obama and Bush administrations. With a passion for education about the importance of diagnostics in healthcare, Aspinall co-founded the International School of Biomedical Diagnostics at Arizona State University, the first and only program dedicated entirely to Diagnostics as an independent discipline. ASU awarded their first Master degrees in Diagnostics in 2015 and has 102 students matriculating this year.
Aspinall was named Arizona Biosciences Leader of the Year by the Arizona Biotechnology Association and one of “100 Most Inspiring People in Life Sciences” by PharmaVOICE magazine. She started her business career at the strategic consulting firm Bain & Company. She holds an MBA from Harvard Business School and a BA in International Relations from Tufts University.
Applying her background in molecular and clinical genetics, genetic counseling and behavioral science, Dr. Hooker has worked to identify and overcome barriers to effective translation of genome science at the patient, provider and system levels.
She completed her PhD in Molecular Biology at Yale University and her masters degree in Genetic Counseling at the Johns Hopkins/NIH Genetic Counseling Training Program. Her research has focused on outcomes of genetic counseling and testing, first as an academic and more recently in her position as the VP of Clinical Development for Concert.
She has been actively involved in the National Society of Genetic Counselors, is a past chair of the Research SIG and Practice Guidelines Committees, and joined the NSGC board of directors in 2018.
As a researcher at Georgetown University and the National Human Genome Research Institute, Hooker has worked with numerous transdisciplinary teams to develop and evaluate methods for delivering genomic information to patients and their providers. She also served as the associate director of the NIH/Johns Hopkins Genetic Counseling Training Program and currently serves on the advisory committee of the Vanderbilt Genetic Counseling Training Program.