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This learning plan covers genetic conditions that GPs and other healthcare professionals may encounter in primary care, including Prader-Willi syndrome, familial breast cancer, cardiomyopathy, Down’s syndrome and familial hypercholesterolaemia. This plan features a quiz to help you identify gaps in your knowledge.
Each educational activity provides key learning points and a post-test so you can check what you have learned. You can undertake the whole plan or select individual modules to meet your learning needs. CPD credits can be claimed on each module.
In this free 7-question quiz, test your knowledge of genetics in primary care including Prader-Willi syndrome, cardiomyopathy, Down’s syndrome, familial hypercholesterolaemia and breast cancer risk.
In this article, updated in 2016, Dr Amish Chinoy and Dr Raja Padidela discuss the genetic inheritance of PW syndrome, the neonatal features and adult complications of the syndrome. Key learning points for GPs and nurses include when to consider investigations and what the prognosis is.
This article by Dr Rajiv Sankaranarayanan covers the diagnosis and management of cardiomyopathy. Key learning points for healthcare professionals include the five types of cardiomyopathy, the importance of genetic counselling and screening, and prognosis.
Dr Esther Corker and colleagues outline the cause of Down’s syndrome, the screening process and the role of the GP in the management of comorbidities both in childhood and adulthood. Key learning points for healthcare professionals include when to conduct assessments for cardiac, thyroid and gastrointestinal disease.
Dr Martin Duerden reviews the current guidance on familial hypercholesterolaemia (FH), which was last updated in November 2017. This module covers prevalence, diagnosis, investigations, management and contact tracing of family members who may be affected.
Dr Helen Hanson provides an update on familial risk of breast cancer, and BRCA testing. Key learning points for healthcare professionals include appropriate breast surveillance, who is eligible for a genetic test, and management of BRCA carriers.