Genotype before phenotype? Reversing the diagnostic odyssey in genomic medicine
Genetic sequencing for rare diseases is catching diagnoses earlier by identifying mutations before symptoms fully emerge, though interpretation challenges remain.
This perspective reviews the shift from phenotype-driven to genotype-first diagnosis in rare genetic disorders, enabled by WES/WGS, newborn genomic screening, and large biobanks, and discusses how reverse phenotyping can shorten the diagnostic odyssey. Key challenges including VUS interpretation and partial phenotype explanation are highlighted, calling for integrated genomic-clinical data frameworks.
What the study was
- Study design
- Perspective/narrative review
- Population
- Rare genetic disorder patients
- Category
- Genomics/Precision Medicine
- Maturity
- Validated
- Journal
- Eur J Med Genet
Why it surfaced
Relevant conceptual framework for rare disease genomic medicine. No new primary data — perspective piece.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.