Browse topics
Genetic and metabolic medicine
22 notes, 66 questions and 193 flashcards.
Tier 1 is core knowledge expected of every trainee. Tier 2 is deeper or less common.
Key conditions
- Down syndromeFree sampleTrisomy 21 genetics and recurrence risk, prenatal screening, and the adult health surveillance that physicians are asked about, from thyroid and coeliac disease to early Alzheimer disease.Tier 1, condition, 3 questions, 9 flashcards
- Klinefelter syndrome47,XXY primary hypogonadism, how it presents in adults, the hormone pattern, testosterone replacement and PBS access, fertility by micro-TESE, and the metabolic, bone and cancer risks.Tier 1, condition, 3 questions, 8 flashcards
- Marfan syndromeFBN1 aortopathy, the revised Ghent criteria and systemic score, the look-alikes that change management, root surveillance, ARB and beta-blocker therapy, surgical thresholds and pregnancy.Tier 1, condition, 3 questions, 9 flashcards
- Neurofibromatosis type 1The 2021 revised NF1 criteria, how NF1 differs from Legius syndrome and NF2, plexiform neurofibromas and MEK inhibitors, MPNST warning signs, and adult surveillance for breast cancer, phaeochromocytoma and hypertension.Tier 1, condition, 3 questions, 10 flashcards
- Noonan syndromeThe commonest RASopathy, its genes and genotype-phenotype links, pulmonary stenosis and HCM, bleeding diathesis before surgery, growth hormone, and how it differs from Turner syndrome.Tier 1, condition, 3 questions, 8 flashcards
- Turner syndrome45,X and its variants, the 2024 international guideline on diagnosis, growth hormone, oestrogen replacement, aortic size index thresholds and pregnancy, and the lifelong screening adult physicians run.Tier 1, condition, 3 questions, 9 flashcards
Familial cancer syndromes
- BRCA1 and BRCA2 hereditary breast and ovarian cancerFree sampleWho to test, what BRCA1 and BRCA2 carriers face, surveillance and risk-reducing surgery by eviQ, cascade testing, and PARP inhibitors.Tier 1, condition, 3 questions, 9 flashcards
- Familial adenomatous polyposisAPC genetics and genotype-phenotype links, classic versus attenuated FAP, colectomy timing and choice, duodenal surveillance with Spigelman staging, desmoids, and MUTYH-associated polyposis.Tier 1, condition, 3 questions, 9 flashcards
- Lynch syndrome (hereditary non-polyposis colorectal cancer)Mismatch repair genes, universal tumour screening and how to read the immunohistochemistry, gene-specific cancer risks, eviQ surveillance, aspirin and risk-reducing gynaecological surgery.Tier 1, condition, 3 questions, 9 flashcards
Less common or complex conditions
- Fabry diseaseX-linked alpha-galactosidase A deficiency. Childhood burning pain and angiokeratomas, then proteinuric CKD, LVH with a short PR and young stroke. Enzyme testing in men, GLA sequencing in women, and Australian funding (migalastat and pegunigalsidase alfa on the PBS; agalsidase through the LSDP).Tier 2, condition, 3 questions, 8 flashcards
- Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease)The commonest inherited neuropathy. Pes cavus, distal wasting and areflexia over decades, the 38 m/s nerve conduction cut-off between CMT1 and CMT2, PMP22 duplication testing first, telling CMT from CIDP, inheritance patterns, supportive care and the vincristine warning.Tier 2, condition, 3 questions, 8 flashcards
- Metabolic causes of rhabdomyolysisWhen rhabdomyolysis points to an inherited metabolic myopathy, the RHABDO red flags, how CPT2 deficiency and McArdle disease differ, what to send and when, and the management traps around fasting, anaesthesia and exercise.Tier 2, condition, 3 questions, 8 flashcards
- Urea cycle disorders including OTC deficiencyHow urea cycle disorders present in adults, OTC deficiency in women and late-onset men, the ammonia sample and first-line metabolic tests, emergency management with glucose, scavengers and dialysis, drug triggers, citrin deficiency and other causes of non-hepatic hyperammonaemia.Tier 2, condition, 3 questions, 9 flashcards
Investigations and procedures
- Karyotype and chromosome microarrayWhat a G-banded karyotype and a chromosome microarray each detect and miss, how to read the ISCN result line, how copy number variants are classified, which test to order for which indication, and the Medicare items that fund them.Tier 2, medical sciences concept, 3 questions, 9 flashcards
- Single gene testing and interpreting common genetic test resultsWhen a single gene test beats a panel, which method fits which variant type, how to read a report line by line, and how to explain reduced penetrance, attenuated phenotypes, variants of uncertain significance and CFTR results to patients.Tier 2, medical sciences concept, 3 questions, 9 flashcards
Specific issues
- Constructing and interpreting genogramsHow to draw a three-generation pedigree with standard NSGC symbols, including the 2022 sex and gender update, what to ask, how to read inheritance patterns and hereditary cancer red flags, and how to take a family history respectfully with Aboriginal and Torres Strait Islander and Māori families.Tier 2, medical sciences concept, 3 questions, 8 flashcards
- Counselling about variants of uncertain significance and incidental findingsHow to explain a VUS and what to do (and not do) with it, how often VUS are reclassified, the difference between incidental and secondary findings, the ACMG SF v3.3 list, and unexpected findings such as consanguinity on microarray or maternal cancer on NIPT.Tier 2, topic overview, 3 questions, 8 flashcards
- Indications for referral to clinical genetics servicesWho to refer to clinical genetics or a familial cancer centre, what you can test yourself under Medicare, carrier screening, prenatal and preimplantation testing, metabolic presentations in adults, and how to make a referral useful.Tier 2, topic overview, 3 questions, 9 flashcards
- Legal and ethical principles of genetic testingConsent levels for genetic tests under NPAAC, predictive testing, testing children, telling relatives and the Privacy Act section 95AA guidelines, the 2026 life insurance ban, discrimination law, and when to call an ethics consultation.Tier 2, topic overview, 3 questions, 9 flashcards