TRANSPERS March 2021 Newsletter
Letter from Center Director
In this issue, we are pleased to report on our new publication in Science on affordability vs. value and a new National Academy of Medicine Committee appointment. We are also excited to report on our recent work with payers on decision-making for coverage of exome vs. genome sequencing conducted with the Clinical Sequencing Evidence-Generating Research (CSER) consortium, a new study on coverage for Alzheimer’s Disease genetic testing, and growth of our work on global implementation of clinical genomic sequencing as well as other news.
As always, we welcome your thoughts, comments, and ideas for collaboration.
Kathryn A. Phillips, PhD
TRANSPERS Publishes in Science: Should We Focus on Affordability or Value of Precision Medicine? We Need Both!Debates about precision medicine commonly focus on whether we can “afford” it. But is that the right question? In an article published in Science, a TRANSPERS team lead by Kathryn Phillips and collaborators Jeroen Jansen and Christopher Weyant address this question. We assert that precision medicine is here to stay – but it can only achieve its potential if it is both affordable and of high value. The article is part of a special Science report celebrating the 20th anniversary of the sequencing of the human genome.
A precision medicine intervention can generate high costs but still be a good value, or it can have a low price but provide few improvements in outcomes and be of poor value. Thus, focusing only on affordability (“Can we pay for it?”), not also value (“Should we pay for it?”), risks rejecting technologies that might make healthcare more efficient. We assert that it is critical to examine both affordability and value. Still, analyses of value (such as cost-effectiveness analyses) often do not examine affordability and budget impact, resulting in incomplete or contradictory conclusions. However, assessments that consider both affordability and value are beginning to become more accepted by decision-makers in the U.S. due to an increased focus - and political will - on how to ensure sustainable and efficient health care.
The full report is titled: “Complicated legacies: The human genome at 20.” We were invited to provide an economic perspective on “how we got here, and where we should (or ought not) be going.” Other papers address big data, diverse populations, data sharing, and privacy.
Kathryn Phillips named as Member of National Academy of Medicine Roundtable on Genomics and Precision HealthKathryn in delighted to have joined the National Academy Roundtable on Genomics and Precision Health, which has been a leading voice in discussions with key stakeholders about the implementation of genomics and precision health since 2007.
The Roundtable brings together diverse voices to encourage innovation and actions that foster the wide adoption of and equitable access to the benefits of genomics and precision health. Their vision is to realize the full potential of health for all through genomics and precision health. Their current work focuses on driving innovation, spurring adoption, driving equity, and shaping the policy dialogue about genomics and precision health.
The March Roundtable meeting discussed new Roundtable initiatives, partnerships for workforce diversity, and the role of the National Academies in the new Presidential Administration.
TRANSPERS Analyzes Private Payer Coverage Policies for ApoE Genetic Testing for Late-Onset Alzheimer’s Disease Ahead of Possible Therapy Approvals by FDA
New TRANSPERS collaborator Jalayne Arias led an evaluation of ApoE genetic testing coverage decisions, published in Genetics in Medicine - the first to examine private payers’ coverage policies that apply to ApoE genetic testing for late-onset Alzheimer’s disease. ApoE testing may have an important clinical role as the field advances, particularly considering that disease-modifying therapies are under evaluation by the Food and Drug Administration (FDA). If the FDA approves a therapy, payers may be motivated to reevaluate their existing coverage policies.
TRANSPERS collaborators analyzed the eight largest private payers’ coverage policies for ApoE genetic testing, examined the rationales, and described supporting evidence referenced by policies. They found that current payers’ coverage policies reflect standards that discourage ApoE genetic testing due to a lack of clinical utility.
Efforts to identify disease-modifying therapy for Alzheimer’s disease are linked to understanding the disease, the underlying pathology, and risk factors – including genetic risk factors. ApoE-e4 (ApoE) status is the most significant genetic risk factor for late-onset Alzheimer’s disease. Clinical access to ApoE genetic testing for predictive or diagnostic testing related to Alzheimer’s disease is determined, in part, by payers’ coverage policies. There is a gap in understanding private payers’ policies and their rationale for their coverage policies regarding ApoE genetic testing.
TRANSPERS Meets with Payers to Explore Decision-Making for Coverage on Exome vs Genome SequencingCollaborators Julia Trosman and Kathryn Phillips led a workshop with 12 payers from the TRANSPERS Payer Board to explore payer decision-making for coverage of exome vs. genome sequencing. This work was conducted in collaboration with the Clinical Sequencing Evidence-Generating Research (CSER) consortium. Look for a new publication addressing payer decision-making and incorporating researcher and clinician perspectives.
New Website for Global Economics and Evaluation of Clinical Genomics Sequencing Working Group (GEECS)GEECS has launched a new website: Global Economics and Evaluation of Clinical Genomics Sequencing Working Group! Read about our collaborators and recent publications in JAMA and BMJ Global Health.
International Collaborators Explore Funding Challenges and Implementation Solutions for Clinical Genomics Sequencing Across Diverse Health Care SystemsIn a BMJ Global Health article, Availability and funding of clinical genomic sequencing globally, Global Economics and Evaluation of Clinical Genomics Sequencing (GEECS) collaborators examined clinical genomic sequencing availability and funding across countries and three diverse health care systems. We describe what type of data and initiatives will be needed to better track and understand the use of testing worldwide, including coordinated testing infrastructures and stakeholder engagement.
“The Coming Era of Precision Health”: Kathryn Phillips Publishes Book Review in Health AffairsIn a new book, Lloyd Minor, Dean of the Stanford School of Medicine (along with Matthew Rees), lay out a far-reaching and insightful vision for “precision health” - preventing disease before it starts using personalized technological advances and a holistic approach. In her book review, Kathryn points out that now the real work begins: figuring out how to implement precision health.
- Kathryn Phillips, "Next Generation Sequencing in Clinical Practice: Current Status and Future Needs," Centers for Disease Control and Prevention, February 18, 2021.
- Kathryn Phillips, "Addressing Reimbursement and Economic Challenges for Genomic Medicine: Current Status and Future Directions." Duke University. March 25, 2021.
- Kathryn Phillips, "Worldwide Exome and Genome Sequencing: Who Has Access, Who Pays, and What are Solutions for Implementation Challenges?" ACMG Annual Clinical Genetics Meeting. April 13-16, 2021.
Grace Lin and Maren Scheuner. "Financing of Germline Testing: Implications for Availability and Access." ACMG Annual Clinical Genetics Meeting. April 13-16, 2021.
TRANSPERS teaches Precision Medicine to PharmD and MD students
UCSF Department of Clinical Pharmacy faculty member, Bani Tamraz along with Kathryn Phillips, led an in-depth intensive course for 1st year PharmD and MD students on PRECISION MEDICINE REVOLUTION: How Will Precision Medicine Revolutionize Healthcare? The Looming Impact on Clinical Practice, Access to Care, Societal Costs, and Patient Outcomes.
Dr. Grace Lin in the ClinicDespite the pandemic and work-at-home status for many of TRANPSERS collaborators, Dr. Grace Lin has continued to see patients in the clinic. We applaud and thank Grace for all of her efforts during COVID-19.
About The Center for Translational and Policy Research on Personalized Medicine
The Center for Translational and Policy Research on Personalized Medicine (TRANSPERS) is the premier research organization for developing evidence-based information about the use of personalized / precision medicine. We address key issues around the access, quality, and value of this so-called “personalized / precision medicine” that will help guide patients, healthcare providers, researchers, industry, and policymakers on how it can be best applied to improve health.
University of California San Francisco
Center for Translational and Policy Research on Personalized Medicine
490 Illinois St., 3rd floor, Box 0613, San Francisco, CA 94143