The following 5 components are key aspects of the genetic counselling process: 1) gathering information (which includes determining the consultand’s needs and concerns, obtaining a detailed family history, and validating the diagnosis); 2) assessing risk; 3) conveying information (which includes providing details of the condition of interest, its inheritance, recurrence risks, and future options); 4) providing support and facilitating decision making; and 5) providing follow-up support and counselling (16). These are described below.

Gathering Information

The first step in the genetic counselling process is to determine the needs of the consultands. This ensures that their specific questions and concerns are addressed and emphasizes to consultands and their families that their needs are of the utmost importance. The questions that individuals have are usually related to their own circumstances and may include questions regarding the illness of concern, its management and treatment, and the risk that they or other family members may develop the illness. In some cases, the primary concern is the consultand’s unfounded belief that he or she may somehow have caused the illness. Consultands may express signs of anxiety, stress, or depression that are related to their concerns about genetic risk.

The next major step is to obtain a detailed family history documenting the state of mental and physical health of the consultand and all first-, second-, and third-degree relatives. Collection of family-history information is necessary for accurate risk assessment regarding the illness of concern; it may also provide other health information (for example, risk of hereditary cancer) important to the individual or family. Along with information about physical and psychiatric illnesses, a complete family history includes details of miscarriages, stillbirths, infant deaths, learning difficulties, childhood behaviour problems, birth defects, ethnicity, cultural group, and consanguinity. The psychiatric family history component includes information about vocational, occupational, and social functioning and any history of psychiatric illnesses, symptoms, treatments, completed suicides or suicide attempts, alcohol or drug abuse, and trouble with the law.

Sometimes family members may erroneously ascribe a disease to a family member, although underreporting of psychiatric disorders is more common (17). Either situation may artificially alter the risk assessment. For this reason, it is important to obtain the individual’s consent and to confirm diagnostic information with medical records.

Risk Assessment

For mendelian disorders the recurrence risks for specific conditions are well defined. However, diagnostic uncertainty and such genetic phenomena as reduced penetrance (no expression of the phenotype despite the presence of the genotype),

variable expressivity (expression occurs at all times but varies in severity between individuals), and genetic heterogeneity (different genotype causing the same phenotype) can make risk assessment more complex. Empiric risk data are, however, available for many disorders without an obvious mendelian inheritance pattern, including psychiatric illnesses (3,8–27). Empiric risk data are derived from family studies of the condition of interest. Information about the consultand’s own family history will, however, usually also be needed to modify available empiric data and tailor risk assessment to the individual situation.

Conveying information

The provision of recurrence-risk information may require several strategies to confer the ideas of probability and numerical risks. Also, the magnitude of the risk is likely to be perceived differently by different people. Thus, recurrence-risk information must be provided in an unbiased manner to minimize influencing individual perceptions of risk.

In addition to information on recurrence risks, information regarding the illness, its medical management, and available support services (for example, disease-specific support groups or agencies) is often provided during the genetic counselling process. This information, along with the risk assessment, can assist consultands in making informed decisions in their own or their family’s best interests, or both.

Support and Facilitation of Decision Making

In situations where consultands are faced with decisions (for example, whether to undergo genetic testing), genetic counsellors provide support during decision-making processes and assistance in adjusting to these decisions. Genetic counselling is nondirective in that it does not tell individuals what course of action to take.

In some cases, a session may focus on attempting to reconcile misconceptions and alleviate feelings of guilt, stress, anxiety, or depression. The genetic counsellor attempts to resolve these issues. Some individuals may need repeat