The role of the GP in genetics

Australian and international studies have highlighted the need for general practitioners to develop genetic literacy and to understand the important role of the GP and primary care plays in the management of genetic conditions. This includes:

  • taking and using the family history to determine the risks of common diseases such as cancer and heart disease
  • identifying patients with specific genetic conditions who may benefit from referral to genetic counselling or specialist management services
  • pre-pregnancy counselling from a genetic perspective, including discussion of prenatal screening and diagnostic tests for genetic conditions
  • identifying, assessing and, when appropriate, referring children and adults with developmental delay, developmental disability or dysmorphic features for diagnosis and specialist services
  • using genetic tests appropriately, including those listed on the Medicare Benefits Schedule
  • being aware of the growing field of genomics and the use of genetic markers to determine therapeutics
  • discussing newborn screening programs with parents and managing children who test positive
  • supporting families with genetic conditions and co-ordinating their care between clinical genetics services and other clinical specialties.

Ref: “The RACGP Curriculum for Australian General Practice 2016”. 2011. Curriculum.Racgp.Org.Au. http://curriculum.racgp.org.au/statements/genetics/.

Genomics in general practice

Advances in genetics and genomics offer great potential for identifying patients at risk of disease and targeting treatment. GPs need up-to-date knowledge and skills in this domain. The Royal Australian College of General Practitioners (RACGP) has released a new guide to help GPs remain on top of the rapidly evolving field of genetics and genomics, and ensure they provide up-to-date information to their patients.

Genomics in general practice consists of short, practical summaries with key information that a GP might need to manage common genetic conditions and issues of testing in primary care. This resource is intended as a ‘guide’ rather than a ‘guideline’, with weighted recommendations for clinical decision-making. Where appropriate clinical guidelines exist (ie they are recent and applicable to an Australian general practice context), they have been referenced in the text.

Genomics in general practice is primarily intended for use by GPs and other primary care staff. Although it has not been designed for use by patients and consumers, this resource does contain some information for patients and consumers.

Ref: “RACGP – Genomics In General Practice”. 2018 Racgp.Org.Au. https://www.racgp.org.au/your-practice/guidelines/genomics.

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