Tutoriels cliniques

Un parcours complet pour les médecins et les patients avertis : comment un bilan génomique est produit et interprété, comment détecter les processus pathologiques des années à l'avance, et ce que les données probantes soutiennent réellement.

Rédigé pour les cliniciens · En anglais uniquement28 sur 34 publiés

Chaque tutoriel de ce parcours est relu de façon indépendante par un second modèle pour en vérifier l'exactitude clinique avant publication.

Reading a Genome

What a 30× Whole Genome Sequence Actually Is — and What It Still Cannot Tell You

A clinical reading guide to 30× whole genome sequencing: what the depth figure means, how it differs from a SNP array and an exome, and the specific variant classes a normal genome report does not exclude.

From Blood Draw to Variant List: What the Genomic Pipeline Does, and Where It Fails Quietly

A clinician's guide to the five stages between a sample and a genomic report — what each accomplishes, why millions of variants is a normal result, and how a poorly read region becomes a falsely reassuring negative.

Pathogenic, Benign, or Uncertain: How a Variant Gets Its Verdict — and What Each Verdict Licenses

A clinician's guide to reading the classification column on a genomic report: what dbSNP, gnomAD and ClinVar each contribute, why a variant of uncertain significance must never drive management, and how to explain penetrance to a patient who has just been called 'pathogenic'.

The 94th Percentile Is Not a 94% Risk: Reading Polygenic Scores in Cardiovascular Prevention

A practical guide to interpreting a polygenic risk score report — how the number is built, how to convert a percentile into absolute risk, why the score may not apply to your patient at all, and why a high score usually changes timing and intensity rather than diagnosis.

Reading a Pharmacogenomic Report: The Gene–Drug Pairs That Actually Change a Prescription

A clinician's guide to interpreting metabolizer phenotype labels, the gene–drug pairs with evidence strong enough to act on today, and why a genotype describes capacity rather than current enzyme activity.

HLA Typing in Practice: The Results That Prevent a Severe Drug Reaction — and the Ones That Only Rule Out Disease

A clinical guide to reading HLA results: which alleles change prescribing today, why a coeliac-permissive type is not a diagnosis, and when a genome-derived HLA call must be confirmed before you act on it.

SNPs and SNP Panels: Reading a Curated Variant Report Without Over-Reading It

A clinical guide to what common single-nucleotide variants and curated panels genuinely deliver — pharmacogenomic phenotypes, HLA risk types, polygenic percentiles — and the structural reasons a negative panel in a symptomatic patient tells you almost nothing.

Multi-Omic Integration

The Five Horsemen

Insulin Resistance in the Compensated Phase: Reading the Decade Before Type 2 Diabetes

Type 2 diabetes is the late visible stage of a storage problem that begins years earlier. How to detect metabolic dysfunction while fasting glucose and HbA1c are still normal, how to stage the liver without a biopsy, and how to sequence the response.

Plaque as Cumulative Exposure: apoB, Lp(a), Imaging and Inherited Risk in the Patient Whose Cholesterol Looks Fine

A clinical framework for atherosclerosis as lifetime particle exposure rather than a ten-year risk percentage — how to combine apoB, Lp(a), coronary imaging and inherited risk into a decision about when to start treating, and how to explain a 'normal' lipid panel that isn't reassuring.

The Third Horseman: Reading Alzheimer's and Parkinson's Risk Two Decades Before Symptoms

A clinical walkthrough of the Alzheimer's cascade, APOE ε4 counseling, the plasma biomarkers that made pre-symptomatic detection real, and the risk-reduction plan the evidence actually supports — plus the Parkinson's prodrome you can ask about in a routine history.

Cancer as an Evolutionary Process: Inherited Risk, Modifiable Risk, and Which Screens Have Mortality Evidence

A clinical account of where cancer can actually be interrupted — germline syndromes that change management now, the metabolic and inflammatory contribution, and the hard line between screens with mortality data and screens with detection data only.

Autoimmunity Before It Declares: Tolerance, Triggers and the Pre-Clinical Antibody Window

How self-tolerance is enforced and how it fails, why an HLA risk genotype is not a prediction, and how to use — and not misuse — autoantibodies in the years before symptoms appear.

The Hallmarks of Aging

The Omic Layers

Mechanisms at Clinical Depth

Frontier and Lifestyle Therapeutics