Assessment of cancer risk often starts with a psychosocial assessment to determine the patient’s concerns and expectations. The patient’s prior experiences with cancer, preexisting psychological conditions, support system, and cultural or religious background may all play a role in their need for evaluation of cancer risk. Because the genetic evaluation process involves discussion of family members who may have had cancer, may be deceased, or may be otherwise estranged from the patient, the person providing the counseling should determine if uncontrolled depression or anxiety is present prior to testing. On occasion, genetic testing or counseling may need to be deferred until the psychiatric issues are addressed.

Clinical information to be obtained for risk evaluation includes age, race/ethnicity, personal history of cancer, exposure history, reproductive history, diet and exercise practices, and date and outcome of last cancer screening examinations. For patients with cancer, the age at which they were diagnosed, the type of cancer and its pathology, the treatment(s) of the cancer, and the current surveillance plan are all relevant. Physical examination findings such as increased head circumference for individuals being evaluated for Cowden syndrome or cutaneous findings for genodermatoses associated with hereditary cancer syndromes may play a role. Some practitioners also perform breast or gynecologic examinations if these are appropriate for the cancer risks of concern.

Documentation of the family history is performed through constructing a pedigree. This information may be obtained from responses from questionnaires, patient interviews, or both. This format provides a visual representation of the patterns of disease occurrence in terms of the familial relationships. The pedigree should consist of all first- and second-degree relatives on both sides of the family, giving information on at least three generations. Race and ethnicity of the grandparents should be noted in order to determine if specific founder mutations may be present. Adoptions and nonpaternity should also be recorded, and the information should focus on the histories of the biologic family members. For family members with cancer, the site of cancer, age of diagnosis, history of risk-reducing treatments and/or treatments for the cancer, current age or age at death, exposures, and current residence are all important information, as well as their history of genetic testing and results if known. Ideally, cancer diagnoses for family members affected with cancer can be confirmed by pathology reports; however, in practice, this information may be difficult to obtain. The results for genetic testing of family members can also be critical components of the evaluation, and reports from these tests should also be obtained when possible, even if they are negative. With changes in the availability and scope of genetic testing, a result that was negative in the past may be considered incomplete today, due to availability for testing beyond full sequencing to include deletion/duplication analysis.

Studies of the accuracy of family histories obtained from the patient have had varied results. One study showed that only 6 % of people did not know if a first-degree relative had cancer, and 8.5 % did not know if a second-degree relative had this diagnosis [19]. Other studies have confirmed that reporting is more accurate for close family members and that a report of no cancer tends to be more reliable than a report of cancer [20]. Some types of cancer appeared to be more likely to be described correctly: reports of breast cancer tended to be more accurate than those of gynecologic or colon cancers [20, 21]. Additional factors that may affect the accuracy of reported family histories are estrangement from family members, deceased family members, limited family structure, or lack of individuals of the gender characteristically expressing the inherited conditions. Lastly, the family history may change over time, and so patients should be reminded to notify the counselor of any new diagnoses, particularly if their genetic testing results are negative or uninformative.