Genomic ascertainment of systemic autoinflammatory diseases: a retrospective cohort study in two population-based biobanks.
Many people carry genetic markers for autoinflammatory diseases but lack diagnosis, revealing missed opportunities for recognition and care.
This retrospective observational study examined Genomic ascertainment of systemic autoinflammatory diseases: a retrospective cohort study in two population-based biobanks. The abstract reports that Despite carrying disease-associated variants, almost no affected individuals had a documented systemic autoinflammatory disease diagnoses, pointing to a substantial gap in disease recognition and a missed opportunity to identify individuals with systemic.
What the study was
- Study design
- Retrospective observational study
- Population
- Human participants
- Sample size
- 159
- Category
- Genomics/Precision Medicine
- Maturity
- Validated
- Journal
- Lancet Rheumatol
Why it surfaced
Retrospective observational study; directly matches Precision oncology and genomic medicine. Conservative abstract-level score 8/10.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.