Supplemental Table 1: Phone Interview Guide

1) Let’s start by talking about your familiarity with genetic counseling. Prior to choosing to participate in the CPMC research study, had you ever heard of genetic counseling?

a. If YES, How did you first hear of genetic counseling?

2) Had you ever met with a genetic counselor for any reason before your participation in the CPMC study?

a. IF YES: Are you willing to share the reason for meeting with the genetic counselor? Was meeting with the genetic counselor a positive or negative experience for you? Why?

b. IF No: Prior to your participation in the CPMC study, had you ever had genetic testing? (via a direct to consumer service like 23andMe or by a doctor) Was this a positive or negative experience? Why?

3) Now let’s talk about your CPMC study results. You have received results for a number of health conditions, and for your genetic makeup for response to certain drugs/medications. Did you review any of these results before speaking or meeting with the genetic counselor? If so, did you look at all of your results, a few of them or just one?

4) In thinking about the makeup of the test reports – was there any part of the test reports that you found particularly helpful? Was there any part of the reports that were difficult to understand?

5) We would like to know how understandable your results were to you, before the genetic counseling session. On a scale of 1 to 5 with 1 being least understandable and 5 being most understandable, how understandable were your results before you talked about them with the genetic counselor?

6) Were there any results (for the different health conditions or the drug-response reports) that you thought were more or less understandable than others?

a. If YES, Which results were easier to understand and which were more difficult?

7) Was there anything that surprised you about your results? Was there anything you were expecting to see, but did not?

8) After looking at your test results on your own, did you feel like you knew what actions, if any, to take in response to your results?

9) Now we’ll talk about your genetic counseling experience. a. CPMC: How did you learn of the genetic counseling services offered by Coriell? What prompted you to seek genetic counseling?

Probes: Did you think genetic counseling was required? Are you at increased risk for any of the conditions you received results for? Were you confused or worried about your results?

b. OSU-CPMC: What prompted you to go to the genetic counseling appointment?

Probes: Are you at increased risk for any of the conditions you received results for? Were you confused or worried about your results? 10) What things were you expecting the genetic counselor to do or to talk about? Was there any part of the session with the genetic counselor that was different than what you had expected?

11) Did you like the format of the session? a. CPMC: Would you have liked to talk to a counselor in-person instead? Or in person first and then follow up by phone if necessary?

b. OSU-CPMC: Would you have liked to talk to a counselor by phone instead? Or by phone first and then in person if necessary?

12) Was the genetic counseling session too long or too short, or just about right?

13) What were the main questions or concerns that you had for the genetic counselor?

14) Were all of your questions answered?

15) Did the genetic counselor review your family and medical history? If YES, Did you feel this was useful?

16) Did the genetic counselor review all of your results with you or just a few/just one? Was this at your request or based on the genetic counselor’s direction, or both?

17) Would you prefer that the genetic counselor review all of your available results or only those for conditions that you are at increased risk for?

18) Now, I’d like to know how understandable your results were to you after the genetic counseling Session? On a scale of 1 to 5 with 1 being least understandable and 5 being most understandable, how understandable were your results after you talked about them with the genetic counselor?

19) Were there any parts of your test results that you thought were more or less easy to understand, after the genetic counseling session?

20) Did the genetic counselor make any recommendations for you based on your results? a. If YES, do you recall what recommendations were made? b. If YES, did you follow through on those recommendations? Why or why not?

Probes: Did the counselor recommend that you meet with another health care provider? Pursue additional testing? Change your diet/exercise/smoking habits?

21) What additional topics did the genetic counselor discuss? Were these topics directed by you or by the genetic counselor or both?

Probes: Did the counselor talk about the meaning of your results for your family members? Did the counselor talk about how to interpret relative risk numbers? The interaction between genes and environmental/lifestyle factors (complex disease genetics)? How genes influence drug metabolism?

22) Considering all of the topics that were discussed, which topic was the most important to you and which topic was least important?

Probes: was there something you wanted the counselor to talk more about? Or something the counselor talked about that you were not interested in as much? 23) OSU-CPMC only: Did you recall receiving a copy of a summary letter and your pedigree (family tree) from the genetic counselor after the genetic counseling session?

a. Did you find this summary note helpful? Why or why not? b. Was there any part of the summary note that you think should be changed? How?

Ok, just a few more questions then we’re done.

24) Overall, were you satisfied with the genetic counseling experience? If No, why not?

25) Do you think that people who have genetic testing for complex disease should be offered genetic counseling about their results? a. If YES, Do you think genetic counseling should be required? If NO, why not?

26) What reasons can you think of that might prevent people from speaking to a genetic counselor about genetic test results for complex disease? a. Probes: logistical reasons (travel, time, money), or other (privacy concerns)

27) As we mentioned at the beginning of the interview, we hope to improve on the current ways that genetic counseling services are offered. Some people may only want to meet with a genetic counselor in person, while others may prefer other forms of interaction like telephone or internet based options – most likely what will develop over time is a combination of methods personalized for the individual.

If you could think of the perfect way to interact with a genetic counselor, to help you understand and use complex test results like you’re getting through this study, what might that be? a. Probes: would you prefer speaking with a genetic counselor over the phone first and in person later if needed or meeting with a genetic counselor in person only; through the use of an interactive website (Skype?) that connects directly with the genetic counselor; an app on a mobile phone – or possibly, a combination of these methods?

28) Could you explain your reasoning for these choices?

29) Are there any additional tools that you think should be included or used during genetic counseling to improve your experience? a. Probes: Tools might include things like visual aids, diagrams, graphs, interactive websites, YouTube videos; desktop sharing tools so the participant/counselor can view the same screen

30) Would you be interested in interacting with a genetic counselor more than once? For example, if you had additional questions, or if your personal or family medical history changed, if new results were made available?

If YES, could you tell me some reasons why you think this might be helpful?

31) Before we wrap up the interview, is there anything else you’d like to add about your experience with the genetic counselor?

Legend: CPMC: Community Cohort receiving telephone genomic counseling OSU-CPMC: Chronic Disease cohort receiving in-person genomic counseling