Clinical management of genetic conditions

Learning outcomes

• Be able to use referral and management guidelines
• Be able to access specialist help and advice from, and refer appropriately to, genetic services
• Be aware of management options (reassurance, managing uncertainty, reproductive options, preventative measures and surveillance) 
• Be able to co-ordinate care for people with genetic conditions
• Be able to provide patient centred care, including being aware of patient support services
• Be aware of the different uses of genetic testing, including emotional, ethical, legal and social issues

Useful Resources

Be able to access specialist help and advice from genetic services

• The British Society for Human Genetics (BSHG) provides a directory of the UK genetics centres, including links to each regional genetic centre’s website as well as the contact details of clinicians to whom referrals can be made. Under the ‘For patients’ section, there is detailed information about what patients can expect to occur at their medical genetics appointment.
  

Support services available for those with a genetic condition

• Genetic Alliance UK (formally known as the Genetic Interest Group) is a national charity of over 130 patient organisations with the mission to support individuals and families affected by genetic conditions.
  
  
• Contact a Family is a UK-wide charity that provides advice, information and support to parents who have a child with a disability.
  
  
• Unique is a UK-based charity which provides information and support to both families and individuals affected by rare chromosomal conditions as well as the health professionals involved in providing ongoing medical management and care.
  
  
• Antenatal results and choices (ARC) is a national charity which provides non-directive support and information to parents throughout the antenatal screening and testing process. This site also has a section for health professionals with links to ARC publications which can be provided to parents going through the testing process or for parents who have received a diagnosis of a fetal abnormality.