Wilson disease: bring ATP7B results into the copper assessment
Wilson disease diagnosis combines clinical findings, copper studies and genetic evidence. An uncertain ATP7B result or normal ceruloplasmin cannot settle the question alone.
The reading room
Explore medical genetics
Find a starting point, a clinical perspective, or a closer look at the research.
23 articles
Cascade testing: turn a familial variant into a clear testing question
Testing relatives for a known pathogenic variant can clarify inherited risk. The original report, family context and follow-up plan determine how useful the result becomes.
Secondary findings: make the consent conversation match the analysis
Discuss scope, choice and follow-up before sequencing uncovers a medically actionable result unrelated to the original question.
An FMR1 premutation: health and family implications
An FMR1 premutation is different from fragile X syndrome. It can have implications for adult health and inheritance, but it does not predict a single outcome.
Trio sequencing: what parental samples add to interpretation
Family sequencing can clarify inheritance and reduce the candidate list, while leaving important limits around mosaicism and clinical causality.
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.
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.
ClinVar discordance: investigate the assertions behind the summary
Conflicting classifications are a prompt to inspect evidence, scope and dates rather than count votes.
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 imprinting: why parental origin changes the diagnostic question
Imprinting disorders require attention to gene activity and parental origin as well as DNA sequence. Chromosome 15 illustrates the implications for testing and recurrence counselling.
Pseudogene interference: establish which DNA your assay measured
CYP21A2 illustrates how similar DNA sequences and complex gene structures challenge genetic analysis—and why research methods need locus-specific validation.