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Genetic Counselling

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 

    Genetic counselling at PRISM

If you have participated in the Biobank research study you may be contacted about attending a genetic counselling appointment.

Or you may be interested in having your whole genome sequenced at the Precision Health Clinic.

The type of information that may be discussed could include:

  • A diagnosis of a treatable genetic condition that you have but may not be aware of
  • An increased risk of developing a genetic condition such as cancer, heart disease or neurological difficulties
  • Information about how you may respond to medication
  • Information that you are a carrier for a genetic condition – this genetic condition will not affect you however it could have implications for family members and future children

    The information revealed from a genomic screen could be relevant to the health management of you and your family members. If you are healthy, however, then the chance of finding genetic variants significant to your health will be low. Only variants that are clinically actionable will be returned, for example, that could help in the prevention or monitoring of a genetic condition.

Useful resources to find more information about genetic conditions:

For clinicians and participants, if you have any questions about genetic counselling processes or appointments, please contact Yasmin Bylstra