When a patient is suspected of having an inherited condition or there is strong family history, a counselling session with a genetic counsellor should be offered. Genetic counsellors assist clinicians and provide support to patients and families in various ways:
- Taking a detailed family history and drawing out an accurate genogram (a pedigree diagram)
- Explaining the basic concepts of genetics at an appropriate level so that patients can make sense of their condition
- Discussion about the possible inheritance patterns and how it might impact other family members and future generations (an accurate discussion about risks may only be possible in some cases after a molecular diagnosis is obtained)
- Discussion about the benefits and limitations of genetic testing, exploring a patient’s motivation for testing and counselling them on any ethical concerns whilst managing their expectations
- Providing information on current research and directing patients to some helpful resources
In summary, genetic counsellors facilitate an honest and thorough discussion with patients so that they are able to make well-informed decisions about their conditions (including the decision to undergo genetic testing) in an autonomous manner.
If a patient decides to undergo genetic testing, the results will be relayed to the patient either through a phone call, letter, clinic appointment or a combination of all three. The counsellor helps patients in understanding the medical and familial implications of the result whilst also providing emotional and psychological support. They will also provide advice on how to act upon the result, such as family planning, referral to other specialists and familial segregation analysis if required.