Complex disease genetics Polygenic scores in clinic: prediction requires calibration and context October 22, 2026 Medical Genetics editorial team Comments Off on Polygenic scores in clinic: prediction requires calibration and context A high percentile is not an absolute risk, and strong association does not establish that using a score improves care. […]
Inheritance Penetrance and expressivity: why a genetic finding cannot tell the whole future October 22, 2026 Medical Genetics editorial team Comments Off on Penetrance and expressivity: why a genetic finding cannot tell the whole future The same genetic condition can affect people differently. Penetrance and expressivity help explain what a genetic result can—and cannot—predict. […]
Clinical research Rare-disease trial endpoints: measure a change that matters October 22, 2026 Medical Genetics editorial team Comments Off on Rare-disease trial endpoints: measure a change that matters Small populations make endpoint selection more demanding, not less; connect measurement quality, natural history and patient relevance. […]
Gene & cell therapies Gene therapy evidence: distinguish early response from durable benefit October 22, 2026 Medical Genetics editorial team Comments Off on Gene therapy evidence: distinguish early response from durable benefit A one-time administration still requires long-term evidence about effectiveness, late adverse events and who remains represented in follow-up. […]
Research ethics & data Rare-disease data sharing: make data useful without treating access as unlimited October 22, 2026 Medical Genetics editorial team Comments Off on Rare-disease data sharing: make data useful without treating access as unlimited FAIR principles and responsible governance can support discovery while preserving consent, privacy and accountability. […]
Complex disease genetics From GWAS signal to mechanism: why the nearest gene is not the answer October 22, 2026 Medical Genetics editorial team Comments Off on From GWAS signal to mechanism: why the nearest gene is not the answer Association identifies a genomic neighborhood; causal variants, target genes and biological effects require additional evidence. […]
Gene discovery Gene–disease validity: establish the association before classifying a candidate October 22, 2026 Medical Genetics editorial team Comments Off on Gene–disease validity: establish the association before classifying a candidate A plausible variant cannot compensate for an uncertain relationship between the gene and the proposed disorder. […]
Variant interpretation ClinVar discordance: investigate the assertions behind the summary October 22, 2026 Medical Genetics editorial team Comments Off on ClinVar discordance: investigate the assertions behind the summary Conflicting classifications are a prompt to inspect evidence, scope and dates rather than count votes. […]
Population genetics Population reference datasets: rarity, constraint and ancestry in context October 22, 2026 Medical Genetics editorial team Comments Off on Population reference datasets: rarity, constraint and ancestry in context Reference databases are essential for variant interpretation, but absence, group labels and gene-level constraint each require careful qualification. […]
Genomic testing What makes a genetic result clinically actionable? October 22, 2026 Medical Genetics editorial team Comments Off on What makes a genetic result clinically actionable? Finding a DNA change is only part of the question. Clinical actionability asks whether reliable evidence supports a useful response to that finding. […]