Genomic1. Why is consent for genomic testing different from a routine FBC?A. Results can affect relatives, kinship, and variants of uncertain significance — discuss these before testingB. There are never any family implicationsC. GPs should order whole-genome sequencing for tirednessD. Children must be tested for all adult-onset conditions in GPCheck
Genomic2. A relative does not want cascade testing after a familial BRCA pathogenic variant. What is correct?A. You must test them covertly from leftover bloodB. The right not to know should be respected after they have been offered informationC. Insurance rules mean you should lie in the recordD. You can force testing under the MCA because they are anxiousCheck
Genomic3. A couple want their 6-year-old tested for Huntington's because grandad is affected. What is the usual UK ethics position? The most appropriate action is: Do not test children for adult-onset conditions that will not change childhood management — wait until they can consentTRUE. TrueFALSE. FalseCheck
Genomic4. An unaffected woman tests negative on a panel, but no familial pathogenic variant was ever found in an affected relative. What is the trap?A. Negative always means population risk regardless of the letterB. A negative test in this setting may be uninformative — follow genetics advice, not 'population risk' folklore automaticallyC. She can ignore breast screeningD. The test proves the family cancers were all lifestyleCheck
Genomic5. LDL-C 7.2 mmol/L, tendon xanthomas, father MI at 42. QRISK3 is 8%. What is the most appropriate interpretation?A. QRISK 8% means no treatment and no referralB. Possible familial hypercholesterolaemia — refer lipid clinic; QRISK underestimates monogenic FH (NICE NG238)C. Start a fibrate in GP as first-line FH therapyD. Tendon xanthomas are always gouty tophiCheck
Genomic6. First-line drug class for FH (alongside lifestyle) is:A. High-intensity statin (ezetimibe/PCSK9/inclisiran via specialist pathways as needed)B. Low-intensity simvastatin 10 mg as the NICE FH targetC. Fish oil onlyD. AnastrozoleCheck
Genomic7. One partner has sickle cell trait, pregnancy planned. What should GP arrange?A. Iron for both partners indefinitelyB. Partner testing and counselling via NHS SCT laboratoriesC. No testing because trait cannot affect a fetusD. Hydroxycarbamide for the trait carrier in GPCheck
Genomic8. Beta-thalassaemia trait on HPLC. A locum starts ferrous sulfate long term. What is the most appropriate action? The most appropriate action is: Stop unnecessary iron if stores are replete; counsel about reproductionTRUE. TrueFALSE. FalseCheck
Genomic9. Local protocol forbids starting azathioprine until TPMT is back. The patient wants tablets today. What do you do?A. Wait for TPMT (or follow the written local/shared-care protocol); do not full-dose blindB. Start 200 mg daily anywayC. Substitute methotrexate at a random high dose without shared careD. Give allopurinol with azathioprine to 'boost it' without specialist adviceCheck
Genomic10. Before abacavir (HIV), which test prevents a potentially fatal hypersensitivity?A. TPMTB. HLA-B*5701C. HLA-B*1502 in a White British patient as the only abacavir testD. Simon Broome criteriaCheck