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Meharry’s Role in eMERGE

Meharry eMERGE Team Site PI: Samuel Adunyah, PhD Study PI: Duane T. Smoot, M.D., FACP, FACG, AGAF Co-Investigators: Rajbir Singh, MBBS Siddharth Pratap, PhD External Collaborator: Philip Lammers, MD, MSCI (Baptist Cancer Center, Memphis, TN). Meharry’s Role in eMERGE.

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Meharry’s Role in eMERGE

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  1. MeharryeMERGE TeamSite PI: Samuel Adunyah, PhDStudy PI: Duane T. Smoot, M.D., FACP, FACG, AGAFCo-Investigators: Rajbir Singh, MBBSSiddharth Pratap, PhDExternal Collaborator:Philip Lammers, MD, MSCI (Baptist Cancer Center, Memphis, TN)

  2. Meharry’s Role in eMERGE • Recruit 500 African American participants with selected cancers or at high-risk for cancer to examine possible genetic differences accounting for observed health disparities • Obtain blood samples for DNA extraction for germ-line sequencing as well as RNA genomic analysis and proteomics pertinent to these cancers for a biorepository • Capture sociodemographic survey information and past and future health outcomes from EMR access. • Receive and return sequencing results to patients and their physicians via EMR • Share sequence DNA data with eMERGE sites • Seek future collaborations with other eMERGE sites • Share DNA, RNA and protein from blood samples and sociodemographic data for additional studies in various projects by Meharry and external investigators

  3. Evidence of Cancer Health Disparities

  4. Recruitment Population Breast Cancer Cohort Affected High-risk (Considered for genetic counseling per NCCN guidelines) Prostate Cancer Cohort Affected High-risk (Considered for screening per NCCN guidelines) Colorectal Cancer Cohort Affected High-risk (Considered for risk screening per NCCN guidelines) Lung Cancer Affected cohort High-risk cohort (Considered for screening per NCCN guidelines)

  5. High Risk Inclusion Criteria • Breast • High risk for the development of breast cancer defined as having at least one characteristics: • First, Second, or Third degree relative with: • A known mutation in a cancer susceptibility gene within the family • ≥ 2 breast cancer primaries in a single individual • ≥ 2 individuals with breast cancer primaries on the same side of the family with at least one diagnosed less than 50 years • First or second-degree relative with breast cancer less than 45 years • Mammogram with a Bi-Rads score of 3 or greater in the past 2 years. • Biopsy within the last 2 years showing atypia • Breast density of >50% on mammogram • Colon • High risk for the development of colorectal cancer defined as having one characteristics: • Personal history of colorectal polyps before the age of 60 years • Diagnosis of inflammatory bowel disease (IBD) • First-degree relative with a history of colorectal cancer

  6. High Risk Inclusion Criteria • Prostate • High risk for the development of prostate cancer defined as having at least one characteristics: • Male between and including the ages of 45-60 years • Male between and including the ages of 30-45 years with a PSA of ≥ 1.0 ng/mL • First-degree relative with history of prostate cancer before the age of 60 • Personal history of a previous biopsy in the last 2 years showing atypia or high-grade intraepithelial neoplasia (HIN) • Lung • High risk for the development of lung cancer defined as having at least one characteristics: • Diagnosis of chronic obstructive pulmonary disorder (COPD) • Meets recommendations for screening with low-dose chest CT per NCCN guidelines: • Age 55-74 years and • ≥ 30 pack-year history of smoking and smoking cessation ≤ 15 years

  7. eMERGE Groundwork • IRB • Hiring coordinators • Supplies • Protocols • Database - REDCap • DNA extraction at PathGroup (CLIA certified for DNA extraction; CTRC CLIA Waiver for remainder) • MTA with PathGroup and Sequencing Lab at Baylor • Data Sharing Agreement with eMERGE • Subject Reimbursement • Submitting eMERGE Affiliate membership application

  8. eMERGE Process Flow Chart MeTRC/CTRC Survey/EMR Phlebotomy Processing Biobank REDCap Nashville General Hospital clinics Patient contact Phlebotomy Survey/EMR PathGroup DNA Extraction, QA/QC Baylor HGSC eMERGE DNA seq MeTRC/CTRC Patient contact + ROR MeTRC/CTRC Genomics, Clinical Informatics MeTRC/CTRC Genetic Counseling

  9. MeTRC’s eMERGE Timeline (revised) • Apr 2017: Begin Recruitment REDCap data entry starts • Sep 2017: Enrollment at 250 individuals QA Baylor small batch of samples • Feb 2018: Enrollment at 500 individuals • April 2018: Baylor Received Samples for testing • Dec 2018: Started receiving results back • April 2019: Protocol amendment approved for return of result • 29 May 2019: Start returning results

  10. Recruitment breakdown

  11. Demographics of Participants Median Age = 57 years Median age at cancer diagnosis = 56 44 % female, 56 % male Median BMI = 31 34% did not finish high school 67% report household income < $15,000 63% current smokers 87% menthol cigarettes 75% not currently working Insurance coverage: 33% Uninsured 34% Medicaid (TennCare) 18% Medicare 15% Private Insurance

  12. Results

  13. Results Breast Cancer Group • 6 positive results in patients with breast cancer • BRCA1- familial breast cancer • BRCA2- familial breast-ovarian cancer • ATM- increased susceptibility to breast cancer • PALB2- increased susceptibility to breast cancer • Non-cancerous gene mutation • RYR1- malignant hyperthermia

  14. Results Lung Cancer Group • 5 positive results: 4 in at-risk group; 1 in lung cancer group • ATM- breast cancer • BRCA2- breast cancer • TSC2- tuberous sclerosis • Noncancer related genes: • PKP2- arrhythmogenic right ventricular dysplasia

  15. Results Colorectal Cancer Group • 4 positive results: 2 with and 2 at-risk • PTEN- implicated in colorectal cancer • MSH6- implicated in colorectal cancer • TP53- implicated in colorectal cancer • Non-cancerous • MYBPC3- hypertrophic cardiomyopathy

  16. Results Prostate Cancer Group • 4 positive results in at-risk group • BRCA1- familial breast cancer • PALB2- colorectal cancer • PMS2- increased susceptibility to breast and pancreatic cancers

  17. Return of Result Plan for Positive Results • Coordinators will contact participants by phone using ROR scripts • Provide results over the phone call and/or an option to come and meet the genetic counselor in person • Send results to the PCP as well as enter in the EMR • Results will be mailed in case of three failed contact attempts by phone • Next of kin will be provided results if the participant is deceased

  18. Return of Result Plan for Negative Results • Coordinators will contact participants by phone and provide results using ROR script • Send results to the PCP as well as enter in the EMR • Results will be mailed in case of three failed contact attempts by phone • Provide an option to participate in an additional study to assess understanding of results

  19. Challenges at Meharry • Unable to perform DNA extractions at our site • Contracted for work to be done with a local, outside CLIA certified lab • Had to amend the protocol to allow for return of non-cancer related genes • Initial protocol/consent only discussed cancer related risk • Turnover in staff • Lead investigators Dr. Murray and Dr. Lammers departed Meharry during the study • Dr. Lammers remains active as an external collaborator • The research coordinators that performed the enrollment have departed and been replaced • Poor rate of reaching participants in early ROR phase • Inactive phone numbers, potential for ignoring phone calls from unknown numbers

  20. Future Studies/Collaborations Biorepository with 500 individual participants with African heritage DNA analysis report through eMERGE panel RNA samples in repository Proteomic samples in repository Clinical demographics, medication history, social/family histories Informed consent form allows for participants to be contacted for future studies

  21. Acknowledgements eMERGE Recruitment Team Dr. Rajbir Singh Associate Director, CTRC Dr. Maliyah- Al-Bayan CRC I Dr. Saritha Kadari CRC II Dr. Marldine Nganteh CRC I Ms. Marche’ Jackson CRA II Mr. Abdullah Shamsuddin CRC II Ms. Lanique Woodson CRC II MS. Sherrie Baker CRC I Ms. Kimberly Thomas CRCII Dr. Danyeal Heckard CRC I Dr. Keisha Smith CRC I Dr. Subodh Nag Assistant Professor NGH LAB and Clinic staff

  22. Acknowledgements MeTRC / Meharry: Samuel Adunyah PI MeTRC Philip Lammers (Chief, Hematology/Oncology) John Murray (Former Director, CTRC) Brenda Lemus(Director, CTRC) Sidd Pratap (Director, BioMed Informatics) Rajbir Singh (Associate Director, CTRC) Ketia Barnes (Admin) Karen Smith (Admin) Denise Holland (Admin) Vanderbilt Ingram Cancer Center Hereditary Cancer Program: Georgia Wiesner (Director, VHCP) SmitaRao (Genetic Counselor) Meharry-Vanderbilt Alliance: Sarah Stallings Consuelo Wilkins PathGroup Nashville: James Prescott (Director: Molecular Oncology) NIH/NHGRI: Teri Manolio (Div. Director) Jyoti Gupta (PD) Sheethal Jose (PA) Rongling Li (PD) Ken Wiley (PD) NIH/NIMHD:(5U54MD007593) Rina Das (MeTRC Program Officer) +Staff eMERGE Groups: Ali Gharavi, Wendy Chung (Columbia) Gail Jarvik (UWash) Josh Denny, Paul Harris, Josh Peterson, Kayla Howell, Dan Roden (VUMC) Baylor HGSC: Richard Gibbs (PI) Viktoriya Korchina

  23. Thanks! Questions?

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