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Genetic Counselling

Synonym(s):

What is genetic counselling?

Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions.

This process integrates the following:

  • Interpretation of family and medical histories to assess the presence or chance of a genetic conditioning developing
  • Interpretation of genetic variants and the implications for individuals and their family members
  • Education about the natural history of the condition, inheritance pattern, testing options, management, prevention, support resources and research.
  • Counselling to promote informed choices in view of risk assessment, family goals, ethical and religious values.

Adapted from: Resta et al, (2006) A new definition of genetic counelling: NSGC task force report, J Gen Couns.

The role of genetic counsellors at PRISM

Genetic counsellors at PRISM are involved in:

  • Genomic variant curation
  • Genomics variant classification by co-ordination of multi-disciplinary team meetings
  • Genomic results interpretation and discussion with patients, research participants and clinicians
  • Family history collection and interpretation
  • Consent processes for genetic testing
  • Ethics and regulation regarding genomics research and practice 

Useful resources to find more information about genetic conditions: