Identifying patients with or at risk of a genetic condition

Learning outcomes

• Knowledge of common and/or important genetic conditions
• Be able to take and interpret family history information:
  
  
  • Drawing a family tree (pedigree)
  • Knowledge of patterns of inheritance
  • Understand principles for assessing genetic risk
• Understand DNA as genetic material and how genetic changes contribute to human disease
• Awareness of antenatal and newborn screening programmes

Useful Resources

Knowledge base - Common and/or important conditions

• There are a number of genetic conditions which are included within the knowledge base of the RCGP curriculum statement 6 ‘Genetics in Primary Care’.
  
  

• On the NHS National Genetics Education and Development Centre website, under the ‘learning-genetics’ section, there is clinical and genetic information about many genetic conditions, including those which form part of the knowledge base.
  

• The Oxford Handbook of Genetics provides an overview of genetics for the non-specialist.  It includes sections on single gene conditions, chromosomal conditions, as well as multifactorial conditions such as ischaemic heart disease.  There are also chapters covering antenatal issues and cancer, as well as an extensive glossary with explanations of genetic terminology and a resources section.
  
  
• Genetic Home Reference, a US website, has useful information on more than 500 genetic conditions aimed at patients.

Be able to take and interpret family history information

• The NHS National Genetics Education and Development Centre website has a number of resources designed around taking and drawing a family history including a series of factsheets, pedigree drawing exercises and a video of a GP registrar taking a family history as part of a consultation. The Centre has also produced scenarios which link into the NICE guidelines on Familial Hypercholesterolaemia.
  
  
• NHS National Genetics Education and Development Centre’s website has a number of PowerPoint presentations that explain the different modes of inheritance, such as autosomal dominant and X-linked recessive inheritance.
  
  
• Macmillan Cancer Support also has information about inheritance in relation to the inherited cancer syndromes that is aimed for patients.  This information is located in the inheriting risk section.

Understand DNA as genetic material and how genetic changes contribute to human disease

• The NHS National Genetics Education and Development Centre has produced a number of slide packages describing core genetic concepts, such as the classification of genetic conditions, Knudson's two hit cancer hypothesis and multifactorial conditions.

Antenatal and newborn screening programmes

• The UK National Screening Committee has a continuing professional development programme on the antenatal and newborn screening programmes for those health professional working in primary care. These can be accessed through the home page under Resources for Professionals. This CPD programme can be used for self-directed study or for facilitated teaching sessions.