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Genetics essentials
The language of DNA, genes, chromosomes and inheritance.
MAKING SENSE OF RESULTS
Testing & counselling
Understand genetic tests, their possibilities and their limits.
THE SCIENCE IN CONTEXT
Research & discovery
Explore methods, emerging technologies and the evidence behind discovery.
PEOPLE & FAMILIES
Family & rare conditions
Pregnancy, childhood, inherited conditions and the diagnostic journey.
RISK & UNDERSTANDING
Cancer genetics
Inherited predisposition, tumour testing and the questions that connect them.
EVIDENCE INTO CARE
Clinical practice
Phenotypes, variants and genomic analysis for health professionals.
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Marfan syndrome: connecting FBN1 findings with lifelong assessment
Marfan syndrome can affect the aorta, eyes and skeleton. Genetic testing helps clarify the diagnosis, while clinical assessment and monitoring establish what care is needed.
Amelogenesis imperfecta and junctional EB: interpreting a dental phenotype
Inherited enamel defects can occur alone or within a wider condition. Junctional epidermolysis bullosa illustrates how researchers should separate a shared phenotype from evidence about a specific complication.
DICER1 tumor predisposition: define the outcome before estimating risk
DICER1 links RNA processing to a distinctive tumor spectrum. For researchers, meaningful risk estimates depend on age, recruitment and whether an outcome includes benign growths.
Fabry disease in females: why enzyme activity alone can mislead
Females with Fabry disease can develop substantial organ involvement. Biochemical testing, genetic analysis and clinical assessment provide different information, and enzyme activity alone can miss the diagnosis.
DPYD testing: identifying fluoropyrimidine toxicity risk before treatment
DPYD testing can identify an important cause of severe fluoropyrimidine toxicity. Interpreting the result requires attention to test coverage, enzyme function and the continuing need for clinical monitoring.
Alpha-1 antitrypsin deficiency: one protein, two organ risks
SERPINA1 variants can affect lung protection and cause protein buildup in the liver. Blood levels, protein testing and genetic results answer different parts of the diagnostic question.
Testing & counselling
More in this subject →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.
What a genetic test can miss: analytical sensitivity in context
A test can accurately detect the changes it was designed to find while missing others. Scope, coverage and sample choice help explain what a negative result means.
Research & discovery
More in this subject →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.
Long-read sequencing: match the technology to the unresolved mechanism
Longer molecules can clarify structural variation and difficult regions, but analytical validation and study design still determine diagnostic value.
Single-cell genomics: more cells do not replace more participants
Cell atlases reveal biological heterogeneity, but meaningful disease comparisons require sound sampling, batch handling and independent replication.
Cancer genetics
More in this subject →DICER1 tumor predisposition: define the outcome before estimating risk
DICER1 links RNA processing to a distinctive tumor spectrum. For researchers, meaningful risk estimates depend on age, recruitment and whether an outcome includes benign growths.
KRAS G12C: how a specific variant opened a drug-discovery route
An October 2026 NCI retrospective revisits RAS drug discovery. The foundational KRAS G12C study shows why molecular selectivity and clinical benefit require different evidence.
Functional precision oncology: testing cells, then testing clinical value
An NCI research agenda highlights living-cell drug testing alongside genomics. A pediatric feasibility study shows why useful laboratory results still require stronger clinical evidence.
Clinical practice
More in this subject →Fabry disease in females: why enzyme activity alone can mislead
Females with Fabry disease can develop substantial organ involvement. Biochemical testing, genetic analysis and clinical assessment provide different information, and enzyme activity alone can miss the diagnosis.
ACMG/AMP classification: an evidence framework, not a diagnosis generator
Understand what a variant classification means, where judgment enters and why combining weak clues can mislead.
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.
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