Growing consumer awareness and the increasing availability of genetic tests for many conditions is likely increasing the number of questions your patients are asking about their risk of disease, the risk to their offspring and whether genetic testing is right for them. Genetic counselors can help you address your patients’ needs and incorporate genetics and genomics into your practice.
1. What is cancer genetics?
Cancer Genetics is the study of hereditary and familial cancer. The primary goal of cancer genetic counseling is to identify individuals and families at increased risk of cancer for the purpose of promoting awareness, early detection, and cancer prevention. There are many known genes that can cause inherited forms of cancer in certain families including hereditary breast and ovarian cancer, hereditary colon cancer and others. Identification of these inherited cancer syndromes allows for targeting at-risk individuals for the most appropriate medical management.
2. Who should I refer to a cancer genetic counselor?
In some families, a pattern of cancer is obvious, while in others it may be difficult to detect a pattern due to small family size, incomplete family history, or inability to document diagnoses.
Patients with the following should be referred to a cancer genetic counselor:
- Cancer diagnosed at an unusually young age (e.g. breast or colon cancer before age 50)
- Multiple close family members with the same type of cancer or related cancers (e.g. breast and ovarian cancer, colon and uterine cancer)
- Two or more primary cancer diagnoses in the same individual (e.g. breast cancer in both breasts, breast and ovarian cancer)
- Rare cancers or unusual tumors (e.g. medullary thyroid cancer, retinoblastoma, hepatoblastoma, male breast cancer, adrenal cortical carcinoma, pheochromocytoma and paraganglioma)
- Presence of other features associated with an inherited cancer syndrome (e.g. multiple colon polyps)
Other patients who may benefit from a referral to a cancer genetic counselor include:
- Members of a family with a known hereditary cancer syndrome
- Individuals with extreme cancer anxiety, even in the absence of heightened risk
- Individuals considering genetic testing for cancer risk
- Individuals with questions about cancer risk in family members
- Individuals with heightened risk based on family history or known gene mutation who have questions about cancer screening, prevention or treatment
- Individuals who have had genetic testing for cancer risk and would like more detailed discussion of their test results
3. What benefit does a cancer genetic counselor provide to my patients?
A cancer genetic counselor can help identify who is at risk for an inherited cancer syndrome and discuss screening and prevention options for those individuals.
A cancer genetic counselor also facilitates the genetic testing process by identifying the most informative family member to test, assessing the most appropriate genetic test(s) for patients and their families, interpreting the results, and helping patients and their physicians apply the results to medical management decisions.
Genetic counselors help families with inherited cancer risk deal with many of the personal aspects of having an inherited condition in the family, such as decisions about screening and prophylactic surgeries, discussion of these issues with at risk family members, and the emotional adjustment to a gene mutation associated with increased cancer risk. They can also facilitate referrals to long-term resources such as community agencies, support groups, and other families with the same condition.
4. What evidence is there to recommend or support genetic counseling in cancer genetics?
For health care providers working with cancer patients, it is becoming standard practice to ask about the family history of cancer or refer for cancer risk counseling. The American Society of Clinical Oncology (ASCO) has issued a statement (J Clin Oncol 2006; 24(31):5091-5097) indicating that it is the responsibility of the clinical oncologist to ascertain families at risk for inherited forms of cancer.
Other professional societies with published guidelines recommending cancer risk assessment include:
- American College of Obstetrics and Gynecology (Obstet Gynecol, 113:957-66)
- United States Preventive Services Task Force (Ann Intern Med 2005;143(5):362-79)
- Society of Gynecologic Oncology (Gynecol Oncol 2007;107(2):159-62)
- National Comprehensive Cancer Network
- American Gastroenterological Association (Gastroenterology 2001;121(1):195-7)
5. What do I tell my patient about a referral to cancer genetics?
During an appointment, the cancer genetic counselor will typically:
- Collect a detailed cancer-focused personal and family medical history
- Assess the patient’s risk of developing cancer based on the collected information
- Determine whether or not the history is suggestive of an inherited cancer syndrome
- Provide patient education and answer questions about cancer risks, the option of genetic testing, and the risks, benefits, and limitations of genetic testing
- Review medical management options with or without genetic testing
- Provide psychosocial support to patients and families, and facilitate communication between patients and their families regarding risk information and recommendations
After the visit, the cancer genetic counselor will communicate back to primary care and referring physicians so that risk assessment information can be incorporated into ongoing management
6. Where can I find a genetic counselor specializing in cancer genetics?
Search the NSGC Find a Genetic Counselor Directory