Andy Faucett, M.S., LGC ClinGen / DECIPHER, May 27, 2015

Transcription

1 Engaging the Geisinger Community MyCode Community Health Initiative Andy Faucett, M.S., LGC ClinGen / DECIPHER, May 27, 2015

2 Geisinger Health System Coverage Area 2

3 Geisinger is as close to Iceland as you ll find in the United States - Glenn Steele, 2003 Attractive features for community engagement and longitudinal, genomic medicine research and implementation Large, stable population >2.5 M people (>700K active patients) with many 3+ generation families Strong and trusting relationship between patients and Geisinger Integrated healthcare delivery system Longstanding EHR and comprehensive clinical data Epic implementation from 1996 (2 nd or 3 rd customer) Innovative and supportive leadership 3

4 Geisinger Research Strategic Vision- Board approved 2010 Vision: Personalized Health Care (aka Precision) Emphasis on genomics Coupled with an innovative clinical provider system and payor Both of whom see value in potential to change course of disease/improve health outcomes/reduce costs 10 year Vision - translational research is part of, not separate from, Clinical Medicine 2014 update added focus on participant engagement and Learning Healthcare System 4 Heal Teach Discover Serve

5 History: MyCode began in 2006 High consent rate 85%+ Rate limiting factor was number of consenters Changes discussed in 2012: National discussion about the duty to return research results - Geisinger is a health system patient benefit a priority Cost of Genome Sequencing dropping rapidly - Results available for many participants Set the national biobank standard and become attractive to research partners - Bring benefits of WGS and WES to Geisinger Community

6 Focus Groups checking in with community 6 focus groups held main campus and remote 93 participants 57% F, 43% M (Ages match biobank participants) Pharmacogenomics Recessive Carrier Preventable or treatable Non-preventable or non-treatable Uncertain results 49.5% GHS patients for 20+ years 85% receive majority of care at GHS

7 Engaged Geisinger MyCode Participants Wanted ALL results Results should be returned to healthcare provider and participant (most preferred same time) Geisinger should develop educational materials and expert support system Results should be put in EMR! Began using new consent on October 21, Very positive response 6

8 MyCode Community Health Initiative: An Ethics Advisory Committee Kevin T. FitzGerald, SJ, PhD, chair Jesuit priest, PhDs in molecular genetics and bioethics, Georgetown faculty in oncology and bioethics, former member of the Secretary s Advisory Committee on Genetics, Health & Society (SACGHS) Kyle Brothers, MD, PhD Pediatrician with research interests in childhood obesity, genomic research and clinical use of genomic data; trained at Vanderbilt, now on faculty at University of Louisville, lead publication of emerge paper on consent for children Joan Scott, MS, CGC Certified genetic counselor, Genetic Service Branch Chief, Division of Services for Children with Special Health Needs, Health Resources and Services Administration [HRSA], US Department of Health and Human Services Sylvia Mann Au, MS, CGC Certified genetic counselor, State Genetics Coordinator for Hawaii Department of Health, and member of SACGHS And 4 Geisinger patients! 4

9 Geisinger / Regeneron Partnership - DiscovEHR Objective: Improve our ability to predict and prevent disease, optimize treatments based on genetic information for each individual Partnership between Geisinger Health System and Regeneron 5 10 Year Genomic Sequencing Study 250,000 Study Participants (DiscovEHR) Data Integrating Sequencing, Communities, and Omics adding Value to the Electronic Health Record

10 Why Geisinger & Regeneron true scientific partners Geisinger Resources Unique community partnership, trust Stable population (three generation families) High recruit rate for MyCode Strong research expertise in improving healthcare Research financial resources for return-of-results Regeneron Resources Strong scientific team State-of-the-art DNA sequencing facility Strong financial resources for sequencing costs Focus on new drug development

11 DiscovEHR (Regeneron Geisinger Collaboration) Team Members RGC Leadership Team Aris Baras, M.D. Executive Director and Co-Head, RGC Rick Dewey, M.D. Director, Translational Genetics Omri Gottesman, M.D. Director and Head of Clinical Informatics John Overton, Ph.D. Director and Head of Sequencing and Lab Operations Jeffrey Reid, Ph.D. Senior Director and Head of Genome Informatics Alan Shuldiner, M.D. Vice President and Co-Head, RGC RGC Scientific Advisory Board Richard Lifton, M.D., Ph.D. (Chair) Goncalo Abecasis, Ph.D. Wendy Chung, M.D., Ph.D. Peter Donnelly, Ph.D. Tim Hunkapiller, Ph.D. Sekar Kathiresan, M.D. James R. Lupski, M.D., Ph.D., D.Sc.(hon) Elaine Mardis, Ph.D. RGC Founders and Steering Committee Geisinger Leadership David Carey, Ph.D. Dan Davis, Ph.D. W. Andrew Faucett, M.S. Les Kirchner, Ph.D. David Ledbetter, Ph.D. Michael Murray, M.D. Marylyn Ritchie, Ph.D. George Yancopoulos, M.D., Ph.D., Aris Baras, M.D., Aris Economides, Ph.D., Scott Mellis, M.D., Ph.D., Andrew Murphy, Ph.D., Robert Phillips, Ph.D., Neil Stahl, Ph.D. 11

12 GenomeFIRSTT TM Return of Results 250,000 Geisinger Patients Will Have Their Exomes Sequenced Commitment to Look For Medically Actionable Results In That Data And Return Them To Patients And Providers When Present Offer cascade testing to first degree relatives We Plan To Operationalize A Scalable Genomic Return Of Results Infrastructure In A Large Integrated Healthcare System 12

13 GenomeFIRST Return of Results Sample #1 DNA All samples undergo WES DATA Variant Call Files (VCF) generated Bioinformatic filtering Identifies P/LP variants in Geisinger 76 NON CLIA Sample #2 DNA Sanger sequencing to confirm finding in CLIA setting Positive clinical molecular report generated and deposited in EHR CLIA 13

14 Most Common Conditions Expected in the Return of Results from the Geisinger 76 CONDITION GENES CLINICAL RISK HBOC Lynch Syndrome Familial Hypercholesterolemia Hypertrophic Cardiomyopathy BRCA1 and BRCA2 MLH1, MSH2, MSH6, PMS2 LDLR, APOB, PCSK9 Multiple genes on list Early Breast or Ovarian Cancer Early Colon or Uterine Cancer Early Coronary Artery Disease Cardiac Arrest Heart Transplant

15 GenomeFIRST TM CME for Practitioners The educational modules 27 condition specific CME modules (30 minute duration) Electronically hosted on internal website Pre- and post-test evaluation When providers receive notification of a medically actionable clinical result it includes a hyperlink to the relevant condition specific module Participation is optional These will also be externally hosted soon for use by non-geisinger providers. 15

16 MyCode is prepared for Precision Medicine Initiative Tonight I m launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes and to give all of us access to the kind of personalized information we need to keep ourselves and our families healthier. President Back Obama, State of the Union Address, January 20, 2015

17 Examples of Precision Health Ready Biobanks International 2015 Geisinger MyCode UK Iceland Estonia Opt in consent Yes Yes No Yes EHR linked Yes Yes Limited Partial Longitudinal data Re-contact Individualized Return of Results Current Enrollment Planned Enrollment Yes Yes Yes Yes Yes (broad) Yes (broad) Yes No Yes (targeted) No No Allowed * 60, , ,000 51, , , ,000 1,050,000

18 New MyCode Consents Per Week

19 MyCode Enrollment Projected-All* All YTD MyCode YTD *Assumes 950/week

20 Employee Campaign Two Goals All employees know basics of campaign and where to refer Employees have opportunity to participate

21 Employee Wellness 2015 Joint Advertising 2016 MyCode added as option, joint blood collection

22 Geisinger Team Steering Committee David Ledbetter* David Carey* Andy Faucett* Les Kirchner Mike Murray Dan Davis Marylyn Ritchie Community Engagement Carroll Flansburg Biomedical/Translational Informatics Sarah Pendergrass John Wallace Shefali Verma Anurag Verma Anna Okula Consenting Sam Fetterolf 18 consenters Return of Results Adam Buchanan Monica Giovanni Marci Barr Steve Martin Phenotype Core Joe Leader Brandon Geise Lance Adams Dustin Hartzel Dan Lavage Neil Manus John Snyder 22 *Project Principal Investigators

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