The process of genetic counselling

Genetic counselling is a relatively new area of expertise, first introduced by Sheldon Reed in 1974 (Resta, 2006). Much of the early genetic counselling work involved diagnosing chromosome disorders and children with dysmorphic syndromes and counselling individuals with a family history of hereditary disorders based on empirical evidence.

The identification of specific genes predisposing to conditions, such as Huntington’s disease (HD), in the early 1990s heralded a new era for healthcare, enabling pre-symptomatic testing of unaffected individuals for known genetic conditions. The availability of genetic testing necessitated changes to the way in which genetic counselling was approached and a protocol was drawn up for the genetic counselling of patients considering pre-symptomatic testing for HD (Craufurd and Tyler, 1992). This ensured that healthy individuals were provided with full information, an opportunity to explore their motivation for and implications of testing, an extended period of reflection and informed consent. Although modified over time, the HD protocol has formed the basis of current practice in the genetic counselling of affected and unaffected patients about hereditary cancer and other genetic conditions.

The concept of non-directiveness (i.e. not recommending a course of action and leaving the decision and responsibility to the counsellee) has been the central ethos of genetic counselling for over 30 years. However, there has been debate about whether non-directiveness continues to be relevant to genetic counselling, particularly in cancer where measures to reduce risk are available, and whether in fact addressing psychosocial issues should replace non-directiveness as the central ethos (Biesecker, 2003; Weil, 2003). The US National Society of Genetic Counselors defines genetic counselling as: ‘the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease’. The definition goes onto explain that the process ‘integrates interpretation of family histories to assess the chance of disease occurrence or recurrence, education about inheritance, resources and research and counselling to promote informed choices and adaptation to the risk of the condition’ (Resta et al., 2006).

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