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Genetic and genomic testing is an increasingly important component of contemporary medicine, with GPs potentially encountering genetic investigations across preventive care, reproductive health, pregnancy care, prescribing and the investigation of inherited conditions. The expanding range of available tests can create complexity. Different testing technologies are designed to answer different clinical questions, and understanding their indications, capabilities and limitations is important when considering testing and interpreting results.This activity directly addresses this practical challenge by providing GPs with an accessible framework for understanding different testing technologies and applying this knowledge to clinical scenarios relevant to general practice. Reproductive carrier screening and NIPT are particularly relevant to primary care because GPs may be involved in preconception counselling and early pregnancy care.

Learning Outcomes

1. Differentiate genetic testing approaches and apply them appropriately, recognising the key applications and limitations of germline, somatic and pharmacogenomic testing
2. Interpret reproductive and prenatal genetic screening results, including carrier screening and NIPT, while recognising important limitations, confounders and common pitfalls in testing and result interpretation.

Details

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