Readings
One paper per session for the first six journal clubs, starting in familiar primary care territory and working toward rare disease. Presenters can swap in their own pick. Sessions two and six are case sessions: the paper frames the discussion, the cases carry it.
| Session | Theme | Reading | Why this one |
|---|---|---|---|
| 1 | Family history as a diagnostic tool | Ritchie JB, et al. Public Health Genomics 2022. doi:10.1159/000520001 | Primary care clinicians matched hereditary-cancer referral guidelines 60.6% of the time versus 82.2% for genetic counselors; a family-history tool closed the gap. |
| 2 | The patient who didn't fit | Forghani I, et al. Genes 2025. doi:10.3390/genes16050530 | Of 178 patients meeting hEDS criteria, genetic testing found an alternative or additional diagnosis in 26.4%. Each member brings a one-paragraph outlier patient. |
| 3 | Familial hypercholesterolemia | Jones LK, et al. Front Health Serv 2023. doi:10.3389/frhs.2023.1104311 Companion: Morgan KM, et al. Public Health Genomics 2026. doi:10.1159/000552982 | Why FH stays underdiagnosed, and what a primary-care cascade-testing program looks like. |
| 4 | Pharmacogenomics in everyday prescribing | El Rouby N, Johnson JA. NEJM Evidence 2025. doi:10.1056/EVIDra2400343 | Current evidence, barriers and adoption pathways for PGx testing, including primary care. |
| 5 | Hereditary cancer risk beyond BRCA | Pederson HJ, Narod SA. BJC Reports 2024. doi:10.1038/s44276-024-00099-x | Thirty years after BRCA, most carriers remain unidentified; the barriers include primary care unfamiliarity. |
| 6 | The undiagnosed patient | Pitsava G, et al. Genetics in Medicine 2025. doi:10.1016/j.gim.2025.101574 | Genome sequencing found a diagnosis in 54 of 353 undiagnosed families (15.3%); over half of the causal variants sat in regions earlier tests never looked at. A long diagnostic odyssey is presented. |
For the hypermobility cohort channel: Aziz Q, et al. AGA clinical practice update on GI manifestations and autonomic or immune dysfunction in hypermobile Ehlers-Danlos syndrome. Clin Gastroenterol Hepatol 2025. doi:10.1016/j.cgh.2025.02.015. Sixteen best-practice statements, and the most useful single document on the POTS and mast cell questions that come up in every hypermobility clinic.
After session six, the group sets the next run together, including at least one session on the ethics and economics of independent practice.
Readings retrieved from PubMed on 2026-10-30. Members read the full paper; the one-line summaries here are from the abstracts.