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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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News and studies from original sources. Follow the headline for the full context.
Taking on the RAS Challenge
Dupilumab and Psoriasis Risk in Patients With Atopic Dermatitis: A Multicenter Cohort Study.
Tau extent is associated with lower cognition in Down syndrome-related Alzheimer's disease.
Accelerated Senescence of Fibroblast-Like Cells Derived from Induced Pluripotent Stem Cells of a Patient with Wiedemann-Rautenstrauch Progeroid Syndrome.
Development and Preliminary Psychometric Validation of the Gout Knowledge, Attitudes and Practices (G-KAP) Questionnaire: An Asia-Pacific Multicenter Study.
Using Interpretative Phenomenological Analysis to Explore the Experiences of Mothers Who Have a Child With the Rare Genetic Disorder, HNRNPU-Related Neurodevelopmental Disorder: "Some Days, I Wear a Cape and I'm Super Mom and Some Days, I Have to Hide Under My Cape and I Can't Get Out for a Few Days".
Clinicians' recommendations on neonatal bathing and skin care in the context of atopic dermatitis prevention: An EAACI task force report.
Genomic structural equation modeling dissects Th2-mediated and Th2-independent genetic pathways of the atopic march.
Medical Genetics explains
The library →Knowledge that connects
HFE hemochromatosis: separating genetic susceptibility from iron overload
An HFE result helps explain susceptibility to iron overload. Blood tests and clinical assessment establish whether iron has accumulated and whether treatment is needed.
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.
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.
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.
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 →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.
Clonal haematopoiesis: when blood DNA can complicate germline testing
A pathogenic variant detected in blood may be acquired in blood-forming cells. Establishing its origin can change cancer-risk assessment, family testing and specimen selection.
Clinical practice
More in this subject →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.
Clinical RNA sequencing: connecting a DNA change to its consequences
Transcriptome analysis can reveal abnormal splicing or expression, but tissue choice and assay context determine what a negative result means.
ClinVar discordance: investigate the assertions behind the summary
Conflicting classifications are a prompt to inspect evidence, scope and dates rather than count votes.
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