Genomic Ld Neurodev Eol1. A 34-year-old well woman has a mother with breast cancer at 41 and a maternal aunt with ovarian cancer at 47. She asks if referral is only for people who already have cancer. What is the most appropriate action? The most appropriate action is: Refer to familial cancer/genetics on family-history criteria; the consultand can be unaffected (NICE NG151)TRUE. TrueFALSE. FalseCheck
Genomic Ld Neurodev Eol2. A 38-year-old woman of Ashkenazi Jewish ancestry has a paternal grandmother with ovarian cancer at 52. She is well. What should you consider?A. Paternal history never counts for breast-ovarian geneticsB. Jewish ancestry forbids genetics referralC. Ancestry plus ovarian cancer in the family can lower the threshold for genetics referral — use NG151/local familial-cancer criteria rather than dismissing paternal lineageD. Start HRT as BRCA prevention in GPCheck
Genomic Ld Neurodev Eol3. A 34-year-old man has tendon xanthomas, LDL-C 6.8 mmol/L, and a father with MI at 42. QRISK3 is 4%. A colleague says no statin because QRISK is low. What is the most appropriate critique?A. QRISK 4% forbids a statin in likely FHB. Tendon xanthomas are cosmetic only in this NHS general-practice setting which is not the safest next step in NHS general practice and this would delay appropriate UK-guideline care despite sounding plausibleC. Start a low-intensity statin after a decade of watchful waiting in this NHS general-practice setting which is not the safest next step in NHS general practiceD. QRISK underestimates monogenic familial hypercholesterolaemia; treat as likely FH with high-intensity statin and lipid-clinic/cascade testing (NICE NG238)Check
Genomic Ld Neurodev Eol4. An HIV clinic asks the GP to continue a new antiretroviral that includes abacavir. HLA-B*5701 status is unknown. What is the safety issue?A. HLA-B*5701 is irrelevant to abacavirB. Abacavir hypersensitivity is prevented by taking it with milk in this NHS general-practice settingC. Start abacavir as a GP-initiated drug for recurrent colds in this NHS general-practice settingD. Abacavir requires HLA-B*5701 testing before use because of potentially fatal hypersensitivityCheck
Genomic Ld Neurodev Eol5. A 26-year-old woman of Han Chinese ancestry needs a medicine for trigeminal neuralgia. Carbamazepine is suggested. What pharmacogenomic test is relevant before starting?A. HLA-B*1502 is associated with SJS/TEN with carbamazepine in relevant East Asian ancestry — use MHRA/BNF advice and alternatives if untestedB. HLA-B*1502 is only for penicillin in this NHS general-practice setting which is not the safest next step in NHS general practiceC. Ancestry is irrelevant to carbamazepine SJS risk in this NHS general-practice setting which is not the safest next step in NHS general practiceD. Start carbamazepine at high dose without counselling in this NHS general-practice setting which is not the safest next step in NHS general practiceCheck
Genomic Ld Neurodev Eol6. A GP is asked to continue capecitabine prescribed after a private overseas clinic with no DPYD result. What is the most appropriate stance?A. DPYD is optional folkloreB. GPs should escalate capecitabine independentlyC. DPYD testing is standard before fluoropyrimidines in UK oncology; do not continue a high-risk regimen without the cancer team confirming DPYD statusD. DPYD predicts only statin myopathyCheck
Genomic Ld Neurodev Eol7. A 22-year-old man with alpha-thalassaemia trait has ferritin 80 micrograms/L and MCV 68 fL. What is the most appropriate iron plan?A. Do not give long-term iron for explained trait when ferritin is repleteB. Ferrous sulfate for 2 years regardlessC. IV iron in the treatment room today in this NHS general-practice settingD. Iron is mandatory because all microcytosis is deficiency in this NHS general-practice settingCheck
Genomic Ld Neurodev Eol8. Parents ask you to send a Huntington disease predictive test on their well 8-year-old because ‘we need to know for school’. What is the most appropriate action?A. Send the genetic test from GP todayB. Do not test children for adult-onset Huntington in GP; predictive testing is specialist genetics after counselling, and childhood testing is generally inappropriate if it does not affect childhood managementC. School cannot function without a childhood HD result in this NHS general-practice setting which is not the safest next step in NHS general practice and this would delay appropriate UK-guideline care despite sounding plausibleD. A DTC kit for the child is an acceptable NHS substitute in this NHS general-practice setting which is not the safest next step in NHS general practice and this would delay appropriate UK-guideline care despite sounding plausibleCheck
Genomic Ld Neurodev Eol9. A 40-year-old man brings a direct-to-consumer ‘BRCA positive’ report from an overseas website. What is the most appropriate next step?A. Start risk-reducing surgery listing from GP this weekB. Ignore all DTC results and also refuse NHS genetics if criteria are met in this NHS general-practice settingC. Prescribe tamoxifen today solely from the printout in this NHS general-practice settingD. Do not change treatment on a DTC result alone; refer clinical genetics for NHS-standard confirmation and counsellingCheck
Genomic Ld Neurodev Eol10. A couple in a consanguineous relationship ask about genetic risk before pregnancy. They are well. What is an appropriate GP offer?A. Offer haemoglobinopathy screening and, where indicated, genetics counselling — without moralisingB. Refuse all preconception care because of consanguinityC. Mandatory sterilisation counselling as first-lineD. Iron tablets for both as genetic preventionCheck