June 21, 2019 Ingrid A. Holm, MD, MPH On behalf of the HCP R01 Team

1. The Impact of Return of Unsolicited Results on Health Care Providers (HCPs) in eMERGE III: Preliminary Findings June 21, 2019 Ingrid A. Holm, MD, MPH On behalf of the HCP R01 Team

2. NHGRI R01

3. Background

4. Significance • The eMERGE III Network is one of the first in which unsolicited genomic results will be returned to HCPs on a large scale. • We will leverage this unique opportunity to study the impact of genomic results disclosure in a real world setting, including the HCPs’ perceptions of their role and responsibilities, their actions and barriers to actions.

5. Aims • Survey participant’s HCPs (primary care +/- subspecialists) one month after receiving an unsolicited positive GS result. • Conduct in-depth qualitative interviews at four representative eMERGE sites: • Within 6 months after a HCP receives a positive result, assess 1) actions taken in response to the result and 2) ELSI of receiving the result on HCPs. • In HCPs at sites where negative results are reported, assess whether HCPs took any actions in response to this information. • Identify approaches to returning unsolicited GS results that overcome barriers to HCPs acting on genomic results, and that facilitate interactions between HCPs and patients in the return and follow-up of the results. HCP data will be integrated with data collected by the Outcomes Workgroup and the Participant Survey Subgroup correlating the HCP self-reported data with impact on health service utilization, medical outcomes, and participant self-reported data.

7. Enrollment to date

8. Demographics

9. Gene findings to HCPs who completed the surveys

10. “Initial reactions to receiving the unsolicited genomic result for this patient” “To what extent do you agree with the following statements about receiving this …result?”

11. Genetic knowledge

12. “Before consulting resources other than those provided with the result, when you received the unsolicited genomic result, how confident did you feel in your…….”

13. “Which of the following actions did you perform to gather any additional information after receiving the unsolicited genomic result?”

14. “How similar or different was receiving this unsolicited genomic result for this patient compared to receiving other unsolicited results, such as a CBC ordered by another physician?”

15. Discussions with patient • 72.9% had discussed the result with their patient • 62.9% contacted the patient to discuss the result • Of those who did not… • 39.1% plan to speak to patient • 52.2% defer speaking to patient to allow another provider whom the patient sees to contact patient

16. Topics discussed “How much time did you spend discussing…” 77.0%≦15 minutes

17. Actions taken • “Did you refer your patient to a subspecialist/s?” 55.7% Yes • “Which subspecialists did you refer your/the patient to?” • 41.2% Genetics • 14.7% Cardiology • 11.8% Oncology • 32.3% Other • “Did you order additional test/s on your/the patient?” 19.7% Yes • “Which of the following additional tests did you order on the patient?” • 75.0% Blood work or urine test • 25.0% Colonoscopy • 8.3% X-rays • 8.3% ECG/EKG • 8.3% MRI/CT scan • 8.3% Mammogram • “Did you recommend family members undergo testing?” 42.6% Yes

18. Implications for patient’s current care “In what ways did you find the unsolicited genomic result useful?” 51.1% Planned future disease surveillance or screening 32.2% Identified at-risk family members 25.6% Informed disease prevention 21.1% Supported the management of patient’s care already underway 16.7% Changed current management of patient’s care 14.4% I did not find the unsolicited genomic result useful

19. Information to receive with result ”What type of information would you have liked to receive with result?” • 71.1% Explanation of the result • 67.8% Recommendation(s) for patient management • 61.1% Information on long-term implications of the result on the patient • 58.9% Recommendation(s) for patient referral • 56.7% Contact information for referral to genetic counselors and/or medical geneticist “How would you liked to receive this additional information?” • 66.7% Through the EHR • 25.6% A letter with the result or after the result was received • 12.2% By email • 2.2% By phone

20. Thinking about the future

21. Comments from HCPs

22. Receiving unsolicited results

25. Relevancy of unsolicited results

27. Benefits

28. Summary

29. Thank you!