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Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI] - Components of the Risk Assessment Process

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Perceived risk can play an important role in an individual's decision to participate in counseling,[22] despite the fact that perceived risk often varies substantially from statistical risk estimates.[23,24,25]

Clinical Evaluation

Personal health history

Consideration of the consultand's personal health history is essential in cancer risk assessment, regardless of whether the individual has a personal history of cancer. Important information to obtain about the consultand's health history includes the following:

  • Current age.
  • Race and ethnicity.
  • History of benign or malignant tumors, surgeries, biopsies, major illnesses, medications, and reproductive history (for women, this includes age at menarche, parity, age at first live birth, age at menopause, and history of exogenous hormone use).
  • Environmental exposures.
  • Diet and exercise practices.
  • Complementary and alternative medicine practices.
  • Past and current alcohol intake and tobacco use.
  • Screening practices and date of last screening exams, including imaging and/or physical examinations.[4,6,26]

For consultands with a history of cancer, additional information collected includes the following:

  • Site of primary tumor.
  • Age at diagnosis.
  • Tumor pathology.
  • Treatment (e.g., surgery, chemotherapy, and radiation therapy).
  • Bilaterality of disease, if applicable.
  • Current surveillance plan.[4]

Physical examination

In some cases, a physical exam is conducted by a qualified medical professional to determine whether the individual has physical findings suggestive of a hereditary cancer predisposition syndrome or to rule out evidence of an existing malignancy. For example, a medical professional may look for the sebaceous adenomas seen in Muir-Torre syndrome, measure the head circumference or perform a skin exam to rule out benign cutaneous features associated with Cowden syndrome, or perform a clinical breast and axillary lymph node exam on a woman undergoing a breast cancer risk assessment.

Family history

Documenting the family history

The family history is an essential tool for cancer risk assessment. The family history can be obtained via interview or written self-report; both were found to result in equivalent information in a study that utilized a sample (N = 104) that varied widely in educational attainment.[27] Studies suggest that paper-based family history questionnaires completed before the appointment provide accurate family history information [28] and that the use of these questionnaires is an acceptable and understandable family history collection method.[29] However, questionnaire-based assessments may lead to some underreporting of family history; therefore, a follow-up interview to confirm the reported information and to capture all relevant family history information may be required.[30] Details of the family health history are best summarized in the form of a family tree, or pedigree. The pedigree, a standardized graphic representation of family relationships, facilitates identification of patterns of disease transmission, recognition of the clinical characteristics associated with specific hereditary cancer syndromes, and determination of the best strategies and tools for risk assessment.[31,32]Factors suggesting inherited cancer risk were previously discussed.

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