This section provides an overview of critical elements in the cancer risk assessment process.
A number of professional guidelines on the elements of cancer genetics risk assessment and counseling are available, such as the National Cancer Network Practice Guidelines for Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer.[1,2,3,4,5,6,7] Except where noted, the discussion below is based on these guidelines.
The cancer risk assessment and counseling process, which may vary among providers, requires one or more consultative sessions and generally includes the following:
- A detailed, multifaceted assessment.
- A determination of the risk of cancer and/or indication for genetic testing based on evidence of an inherited cancer syndrome.
- Education and counseling.
- Establishment of a cancer risk management plan.
At the outset of the initial counseling session, eliciting and addressing the consultand's perceptions and concerns about cancer and his or her expectations of the risk assessment process helps to engage the consultand in the session. This also helps inform the provider about practical or psychosocial issues, and guides the focus of counseling and strategies for risk assessment.
The counseling process that takes place as part of a cancer risk assessment can identify factors that contribute to the consultand's perception of cancer risk and motivations to seek cancer risk assessment and genetic testing. It can also identify potential psychological issues that may need to be addressed during or beyond the session. Information collected before and/or during the session may include the following:
- Motivations for seeking cancer risk assessment.
- Beliefs about the causes of cancer.
- Experiences with cancer and feelings, perceptions, concerns, or fears related to those experiences.
- The influence of cancer experiences and perceptions on health behaviors and cancer screening practices.
- Cultural, religious, and socioeconomic background.
- General psychological issues, such as depression or anxiety.
- Coping mechanisms.
- Support systems.
Either alone or in consultation with a mental health provider, health care providers offering cancer risk counseling attempt to assess whether the individual's expectations of counseling are realistic and whether there are factors suggesting risk of adverse psychological outcomes after disclosure of risk and/or genetic status. In some cases, referral for psychotherapeutic treatment may be recommended prior to or in lieu of testing.
One study has shown that the addition of a colored ecogenetic relationship map (CEGRM) to the psychosocial assessment is feasible for assessing the social milieu in which an individual resides. The CEGRM is a psychosocial assessment tool that expands the family pedigree to include a family systems genogram and ecomap.
Assessing the concept of personal cancer risk and its relationship to genetics is complex and not completely understood. However, the evidence continues to accumulate that a set of evolving factors influences a person's concept of his or her risk, which may not be congruent with evidence-based quantitative calculations. This assessment includes the following:
- Experiential and empathetic knowledge.
- People's beliefs regarding the basis for the occurrence of cancer in themselves and/or their relatives.
- Sources of information and inaccuracies and/or misperceptions.
- Literacy level, including health and numeracy.[11,12]
- Personal theories of inheritance.
- Patterns of decision making (deliberate vs. experiential).[13,14]