9. Healthy adults with a genome result
Clinicians with complex patients Planned episode, genetics in practice. What to do when a healthy patient arrives with an elective or consumer genome result.
Listener title: When a healthy patient brings a genome result
Listener description: The lead of the network's comprehensive genetic risk cohort talks through what to do when a healthy adult arrives with an elective or consumer genome result. The episode covers who should order these tests and with what counseling, what counts as actionable, and how to manage the patient who wants every line explained. For primary care clinicians asked to interpret results they did not order.
Run of show (about 40 minutes)
| Time | Segment | What happens |
|---|---|---|
| 0:00 to 2:00 | Opening | The host introduces the topic and the guest's role as lead of the comprehensive genetic risk cohort. The guest discloses any industry relationships. The host notes that no patient information is discussed and that the guest speaks for themselves, not for the network. |
| 2:00 to 11:00 | Who should order, and with what counseling | Who should be ordering elective exome or genome testing for healthy adults, and what counseling should come first? How does the guest explain the difference between a clinical test and a consumer test to a patient? What does the guest want recorded before testing, such as the reason for testing and the decision on secondary findings, as the comprehensive genetic risk care map does? |
| 11:00 to 20:00 | What counts as actionable | What counts as actionable for the guest? The guest explains how they use the ACMG secondary findings list (Miller 2023) as a minimum actionable set, as the care map does, and what the two population screening studies on the map (Grzymski 2020 and Buchanan 2020) do and do not tell a primary care clinician. Where does the guest draw the line on results outside that list? |
| 20:00 to 28:00 | Composite scenario, not a real patient | The host states that this is a composite scenario, not a real patient. A healthy adult arrives with a printed consumer genome report and a long list of questions about results that range from disease risk to traits. The host and guest discuss what to address in the first visit, what to set aside, which results, if any, the guest would want repeated in a clinical laboratory before acting, and when to bring in a genetic counselor. |
| 28:00 to 36:00 | The patient who wants everything explained | How does the guest handle the patient who wants every line explained? How do they set expectations about time, decide what belongs in a separate visit, and leave the patient with a written summary? In a cash-pay practice, how does the guest structure that time, discussed as method, never as what anyone should charge? |
| 36:00 to 40:00 | Closing | One practical takeaway: before interpreting any result, ask why the patient tested and what they would do with each kind of result, as the first visit on the comprehensive genetic risk care map does. To reach the network, email hello@coloradocarenetwork.com or visit coloradocarenetwork.com/join. To suggest an episode, send the question in two sentences to the same address; members can also post it in #podcast on Slack. |
Guest prep questions (sent to the guest a week ahead)
- Who should be ordering elective exome or genome testing for healthy adults, and what counseling should come first?
- How do you use the ACMG secondary findings list when deciding what is actionable, and how do you handle findings outside it?
- When a patient brings a consumer result, which parts do you address, which do you set aside, and which would you want repeated in a clinical laboratory?
- How do you structure the visit, or visits, for a patient who wants the whole report explained?
- Where in the care map's first year does a primary care clinician most need help from genetics or a genetic counselor?
Show notes
This episode covers the healthy adult who arrives with an elective or consumer genome result. The lead of the comprehensive genetic risk cohort explains who should order these tests and with what counseling, and how they decide what is actionable, using the ACMG secondary findings list as the care map does. The conversation draws on two population genomic screening studies cited on the map and closes with practical ways to handle the patient who wants everything explained. A composite scenario, not a real patient, frames the middle of the episode.
- Sources:
- Miller DT, Lee K, Abul-Husn NS, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(8):100866. doi:10.1016/j.gim.2023.100866
- Grzymski JJ, Elhanan G, Morales Rosado JA, et al. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med. 2020;26(8):1235-1239. doi:10.1038/s41591-020-0982-5
- Buchanan AH, Lester Kirchner H, Schwartz MLB, et al. Clinical outcomes of a genomic screening program for actionable genetic conditions. Genet Med. 2020;22(11):1874-1882. doi:10.1038/s41436-020-0876-4
- No patient information is discussed on this episode.
All planned episodes. To be the guest for this episode, email hello@coloradocarenetwork.com with the episode number.