From Public Health Genomics to Precision Public Health
Muin J. Khoury, MD, PhD
Director, Office of Genomics and Precision Public Health Centers for Disease Control and Prevention
1 Outline
ØWhat is Public Health Genomics?
ØWhat have we done in the past 20+ years?
ØWhere are we going next?
2 From Genomic Medicine to Precision (or Personalized) Medicine
Ø 20 Years after the completion of the human genome project Ø Increasing Number of genetic tests (from single genes to panels and NGS) Ø Increasing public interest and proliferation of direct-to-consumer tests Ø Implementation of noninvasive prenatal testing, rare disease diagnostics, cancer genomics Ø Emergence of precision medicine (AllofUs)
NIH Genetic Testing Registry A Regalado, MI Tech Review 2019 3 The Public Health Approach to “Translation” Beyond Bench to Bedside- The Road Less Traveled!
Khoury MJ, et al. AJPH, 2012
<2% of genomic research Is T2 and beyond 4 The Success of Precision Medicine Requires Public Health
ØFocus on prevention ØImplementing what we know ØPopulation health impact ØEvidence-based policy ØLaboratory quality ØProvider and public education ØEquity: inclusion, generalizability and disparities ØLimited uptake in public health
Khoury MJ, Evans JP, JAMA, 2015. 5 CDC Office of Genomics and Precision Public Health
1. Identify Effective and evidence-based responsible applications use of genomic and 2. Inform precision and communicate health applications 3. Integrate to improve into practice & programs population health
https://www.cdc.gov/genomics 6 CDC Office of Genomics and Precision Public Health
https://www.cdc.gov/genomics 7 Office of Genomics and Precision Public Health 2020 Highlights Early Engagement Continuous “early engagement” effort with Communication and Training multiple CDC programs and • Developed multiple new pages on external partners and health topics stakeholders • Conducted training webinars attended by about 2000 people • Published 38 science blogs, many with COVID-19 Response CDC partners • Provided technical • Published 12 peer-reviewed papers, assistance to the COVID-19 including a review paper on precision response including reviews public health and another on its on smoking, genetic applications to COVID-19 diseases, a weekly update and an online curated • Published 52 weekly updates on database Genomics and Precision Health • Deployed staff to serve on • Website and databases had about 3 response and backfill for million views in 2020 – more than a deployed OS staff base threefold increase over previous years 9 10 Evidence-based Classification of Genomics and Precision Medicine Applications
e.g., newborn Supported by a base of synthesized evidence for Tier 1 screening, HBOC, implementation in practice FH
Synthesized evidence is insufficient to support e.g., many Tier 2 routine implementation in practice; may provide pharmacogenomic information for informed decision making tests e.g., some direct- Evidence-based recommendations against use, to-consumer Tier 3 or no relevant synthesized evidence identified; personal genomic not ready for routine implementation in practice tests
11 Dotson WD, Douglas MP, Kolor K, et al. Clin Pharmacol Ther. 2014 Apr; 95(4): 394–402. Selected Genomic Applications for Public Health Action 2012-2020
§ BRCA1/2 Related Cancers § Lynch Syndrome § Familial Hypercholesterolemia § Collectively Affect ~3 Million People in US and Most Don’t know it. § Implementation of existing evidence-based guidelines can prevent cancer & heart disease & save thousands of lives every year! § Toolkit for public health departments § Working with CDC programs and external partners 2012 § Providing information to general public
12 Emerging and Reemerging Public Health Genomics Priorities
Family History as a Tool for Public Health
Rare Diseases and Acutely Ill GIM, 2016 Infants
Polygenic Risk Scores
Pharmacogenomics
13 Emerging and Reemerging Public Health Genomics Priorities (Cont’d)
GIM, 2021
Population Screening (including next gen newborn screening)
Host Genomics and JAMA, 2020 Infectious Diseases
COVID-19
14 We are Entering a New Era of “Precision” in Public Health Beyond Genomics!
Individuals
Healthcare
Clinical
Treatment
Genomics/Biology
15 Conducting Public Health Functions With More “Precision” Based on Big Data and Digital Technologies
q Assessment AJPM, 2016 Ø More “precision” in measuring population health problems q Policy Development Ø Developing the right intervention for the right population at the right time q Assurance Ø More “precision” in delivering interventions & addressing health disparities
16 Pathogen Genomics as a Tool for Precision Public Heath
17 Ramping Up Genomic Surveillance for SARS-CoV-2 Variants in the United States
CDC Website, April 13, 2021 18 CDC Office of Genomics and Precision Public Health 2021 Priorities § COVID-19 § Health Equity § Public Health Data Modernization
§ Strategic Planning Ø New Initiative Ø NIH Collaborations Ø CDC Foundation Partnerships
19 Office of Genomics and Precision Public Health Strategic Planning Informant Interviews Summary
20