--- module: 069-03 language: en chapter: 69 title: "Genomic Medicine, Genetic Diagnosis, Counselling, and Precision Care" module_title: "Management, monitoring, prevention, safety, ethics, systems issues, and longitudinal care" source_sha256: 7c4dd71231dae8015f76871009a7d35d723d9a6447f8b13784827e3c46bbdc0f --- # Genomic management and longitudinal care ## Care after the result ### Therapy, surveillance, reproduction, family, support ### One result implies risk for relatives #### Autonomy meets relational responsibility ## Actionable care plan ### State what is explained and how confidently ### List complications, surveillance, urgent symptoms ### Do not import advice for a matching gene name ### Replace product or bypass metabolic block #### Diet, cofactor, enzyme, substrate reduction ### Reduce gain-of-function activity, stabilise protein ### Response depends on disease stage #### Established injury may not reverse ### Gene-based therapies #### Immune, off-target, insertional, cost risks #### Long-term registries needed ## Surveillance design ### Justified by risk, treatable stage, benefit ### More testing is not automatically safer #### False positives, radiation, sedation, anxiety ### Specify age, interval, modality, stopping ### Personalise for age and sex penetrance ### Anecdote does not override natural history ### Plans must survive transitions #### Concise genomic summary #### Keep original laboratory report ## Cascade testing ### Targeted testing of relatives is efficient ### Support sharing with a family letter ### Relatives retain the right to decide #### Pressure from family, plans, insurance ### Predictive testing needs consent and a plan ### Minors: test if childhood benefit ### Disclosure without consent is rare #### Serious, preventable harm, no alternative #### Legal review, minimum necessary disclosure ## Reproductive counselling ### Recurrence from mechanism, mosaicism, penetrance ### Options from natural conception to adoption ### Non-directive is not withholding guidance #### Do not devalue a life with disability ### Disability perspectives correct descriptions ### Preimplantation testing limits #### Embryo mosaicism, laboratory error ### Counsel before prenatal testing ## Pharmacogenomics and precision treatment ### Evidence and actionability vary by pair #### Some justify avoidance or dose change #### Others outweighed by kidney, drugs, age ### Record results in the medication system #### Raw genotype confuses prescribers ### Race is not a substitute for genotype ### Tumour matching does not guarantee benefit ### Liquid biopsy limits #### False negative with low shedding #### Clonal haematopoiesis unrelated to tumour ## Privacy and data ### Genomic data are durable identifiers ### Consent covers storage, sharing, withdrawal limits ### De-identification reduces, not eliminates, risk ### Discrimination protections vary by jurisdiction ### Direct-to-consumer tests #### Selected variants give false reassurance #### Positives need clinical confirmation ### Ancestry is statistical, not identity ## Equitable systems ### Underrepresentation increases uncertainty #### Weaker polygenic scores, delayed diagnosis ### Diverse participation and benefit sharing ### Access depends on geography, language, funding ### Multidisciplinary services ### Laboratories may classify differently #### Check current classification before decisions ## Longitudinal psychosocial care ### Relief, grief, guilt, fear ### Uncertainty may be harder than an answer ### Revisit information at life transitions ### Connect to disability-informed support ### Avoid diagnostic overshadowing ### Care is biological and relational