Each page covers one condition properly: what it actually is and what it feels like, what causes it, how common it really is and in whom, and how it's diagnosed — followed by the specific variants with a replicated link to it, and, where the research supports it, how genetics can change the way a medicine behaves.
Written in two registers so one page serves both readers: plain language first, then a clinical detail section with the precise terminology, effect sizes and diagnostic thresholds. Every claim is sourced from freely-available published research and cited on the page, so you can check us — or hand the page to your doctor. 385 conditions so far, growing continuously, and free to reuse with attribution (CC BY 4.0).
17 results in Pharmacogenomic
A CPIC dosing guideline for two widely used chemotherapy drugs, 5-fluorouracil and capecitabine -- three DPYD alleles that reduce the enzyme that breaks the drug down, each with its own guideline-recommended dose cut.
Read more → PharmacogenomicA CPIC dosing guideline, not a research finding still waiting for use: TPMT and NUDT15 genotype already guide starting doses of azathioprine, mercaptopurine and thioguanine in hospitals that test for it, through two separate genetic pathways to the same risk.
Read more → PharmacogenomicDarapladib failed both of its phase 3 trials and was never approved — but re-analyzing the trial genetics found real gene-by-treatment interactions, including one locus where the same allele that raises risk on placebo is protective on the drug.
Read more → PharmacogenomicChildhood ALL is cured in more than 85% of cases, so the genetics worth knowing here is not about who gets it — nothing in our catalogue predicts that — but about who reacts badly to which part of the standard treatment. Four variants, four different drugs and side effects, and very different strength of evidence between them.
Read more → PharmacogenomicA narrower, distinctly studied outcome of Stevens-Johnson syndrome and toxic epidermal necrolysis: cases triggered by cold medicine that go on to cause severe eye damage. An ethnicity-specific study in Japanese and Korean cohorts found a variant near REC114 — a different gene from this site's general SJS/TEN page.
Read more → PharmacogenomicPazopanib, a targeted cancer therapy, carries a real risk of liver enzyme elevation. The study behind this page found its strongest signal at HLA-B*57:01 (31% of carriers had severe elevation, versus 19% of non-carriers) — this page's AGER variant is a secondary signal from the same study, reported plainly as weaker.
Read more → PharmacogenomicCancer pain relief from opioids varies substantially between patients on the same dose. An explicitly exploratory 71-patient study found a candidate variant in ABAT (GABA transaminase) — reported here as a candidate needing validation, exactly as the study itself frames it, not a finding ready to guide dosing.
Read more → PharmacogenomicMost people who complete the hepatitis B vaccine series make a strong antibody response. A minority do not — an already-recognised clinical group, checked by a blood test rather than a genotype. A study of 6,867 Koreans found the strongest signals for who ends up in that group all sit in one gene, HLA-DPB1.
Read more → PharmacogenomicACE inhibitors are among the most prescribed drugs for blood pressure and heart failure, and their best-known side effect — a dry, persistent cough — is the usual reason someone gets switched to a different drug. This page holds three variants from the one study that has looked at who makes that switch.
Read more → PharmacogenomicThe enzyme where the broken copy is the common one. Most people of European ancestry carry two of them, which is why the standard dose of one transplant medicine is the dose that suits a non-working enzyme — and why the people whose enzyme works are the ones who get too little.
Read more → PharmacogenomicA person who is perfectly well until they are given one particular kind of anaesthetic, and then is not. It is the clearest case in medicine of a genotype that changes a decision — and the decision is simply to use a different drug.
Read more → PharmacogenomicThe most common enzyme deficiency in humans, and for almost everyone who has it nothing ever happens. It matters on the days it does: a short list of medicines, and a bean.
Read more → PharmacogenomicOne dose of an ordinary antibiotic, at an ordinary blood level, and the hearing does not come back. It happens to people carrying one change in mitochondrial DNA — which their mother also has, and so do all of her children.
Read more → PharmacogenomicThe clearest result in all of pharmacogenomics: test before the first dose, do not prescribe if positive, and a reaction that used to be feared largely stopped happening. It is also the same allele that makes some people control HIV unusually well.
Read more → PharmacogenomicOne enzyme, four prescribing guidelines. CYP2C19 decides how much drug reaches you for a heart medicine, a stomach medicine, an antifungal and most antidepressants — and the same genotype helps with one and hinders another.
Read more → PharmacogenomicCotinine is the test used to check whether somebody smokes. It turns out how fast you clear it is partly genetic — which matters because smokers of different ancestries get lung cancer at different rates even after adjusting for how much they smoke.
Read more → PharmacogenomicA reaction, not a disease: a medicine most people tolerate takes the skin off a few. The genome-wide scan found the risk in one place only — HLA — and the odds ratio among people who had taken allopurinol was 7.77.
Read more →One diagnosed condition or measurable trait covered properly: what it actually is, what causes it, how common it is, how it is diagnosed, and the specific variants with a replicated link to it — every claim sourced from published research.
No. Every page here is informational, not a diagnosis. A result should be discussed with a doctor or a licensed genetic counselor, never acted on alone.
Because they are not disorders. Height, ABO blood group and a handful of others describe a measurable characteristic with nothing to diagnose — "Trait" says so plainly instead of implying a disease that is not one.
Only after a replicated association in published research, verified against the primary study rather than a gene name or a marketing claim — the same discipline the variant pages themselves follow.