8. Family history as a diagnostic test
Clinicians with complex patients Planned episode, genetics in practice. The theme of the first journal club session.
Listener title: Family history as a diagnostic test in a busy visit
Listener description: A genetic counselor talks through taking a three-generation family history in a primary care visit, the patterns that should prompt action, and the tools that have and have not helped. The episode follows the theme of the network's first journal club session. For clinicians who want family history to do more diagnostic work in limited time.
Run of show (about 40 minutes)
| Time | Segment | What happens |
|---|---|---|
| 0:00 to 2:00 | Opening | The host introduces the topic, the theme of the network's first journal club session, and the guest's role. 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 8:00 | The session one reading | The host summarizes the first journal club reading as the network's readings page does: in Ritchie 2022, primary care clinicians matched hereditary cancer referral guidelines 60.6% of the time, against 82.2% for genetic counselors. The guest explains how the study compared clinicians with a family history collection and risk assessment tool, and what it does not tell a primary care clinician. |
| 8:00 to 17:00 | Three generations in a busy visit | How does the guest take a three-generation history when the visit is short? What can be collected before the visit, and by whom? Which questions does the guest never skip, and how is the history kept current over the years? |
| 17:00 to 25:00 | Patterns that make you act | Which patterns lead the guest to refer, test or change surveillance, and which do they note and watch? How do they weigh a history that is limited or unknown, for example after adoption or estrangement, or in a small family? |
| 25:00 to 31:00 | Composite scenario, not a real patient | The host states that this is a composite scenario, not a real patient. A long-standing patient's family history was recorded at intake as noncontributory. On a structured second pass, the patient describes several relatives on one side of the family with similar conditions that began early. The host and guest discuss what the clinician does next, what to document, and when to involve a genetic counselor. |
| 31:00 to 37:00 | Tools that helped, and what family history misses | Which tools have helped: patient-completed questionnaires, pedigree software, structured fields in the record? Which have not, and why? The host raises the network's comprehensive genetic risk care map, which cites a population screening study (Grzymski 2020) in which only a quarter of participants carrying a pathogenic variant for a Tier 1 condition reported a relevant family history, and asks how the guest holds family history as one test among several. |
| 37:00 to 40:00 | Closing | One practical takeaway: pick one point in the year when the three-generation history is reviewed and updated, and record the date, as the comprehensive genetic risk care map does with its annual review of the pedigree. 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)
- What is the shortest three-generation history you would accept from a primary care visit, and what must it include?
- Which family history patterns make you act, and which do you note and watch?
- What has worked for collecting family history before the visit, and what has not?
- How do you approach a family history that is limited or unknown?
- What did you take from the session one reading (Ritchie 2022), and how would you explain it to primary care clinicians?
Show notes
This episode follows the theme of the network's first journal club session, family history as a diagnostic tool. A genetic counselor explains how to take a three-generation history in a busy visit, which patterns prompt action, and which tools have and have not helped. The discussion starts from the session one reading, Ritchie 2022, and also considers what family history misses, using a population screening study cited on the network's comprehensive genetic risk care map. A composite scenario, not a real patient, illustrates a structured second pass at a history first recorded as noncontributory.
- Sources:
- Ritchie JB, Welch BM, Allen CG, et al. Comparison of a cancer family history collection and risk assessment tool, ItRunsInMyFamily, with risk assessment by health-care professionals. Public Health Genomics. 2022;25(3-4):80-88. doi:10.1159/000520001
- 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
- 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.