Genetic counseling is defined as the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
Individuals are considered to be candidates for cancer risk assessment if they have a personal and/or family history (maternal or paternal lineage) with features suggestive of hereditary cancer. Criteria has been published to help identify 'at risk' families who may benefit from a referral to genetic counseling.
The following are features that suggest an increased possibility of hereditary cancer in a family and the need for cancer genetic counseling:
- Unusually early age of cancer onset (e.g., premenopausal breast cancer).
- Multiple primary cancers in a single individual (e.g., colorectal and endometrial cancer).
- Bilateral cancer in paired organs or multifocal disease (e.g., bilateral breast cancer or multifocal renal cancer).
- Clustering of the same type of cancer in close relatives (e.g., mother, daughter, and sisters with breast cancer).
- Cancers occurring in multiple generations of a family (i.e. autosomal dominant inheritance in a pedigree).
- Occurrence of rare tumors (e.g., retinoblastoma, adrenocortical carcinoma, granulosa cell tumor of the ovary, ocular melanoma, or duodenal cancer).
- Unusual presentation of cancer (e.g., male breast cancer).
- Uncommon tumor histology (e.g., medullary thyroid carcinoma).
- Rare cancers associated with birth defects (e.g., Wilms tumor and genitourinary abnormalities).
- Geographic or ethnic populations known to be at high risk of hereditary cancers. Genetic testing candidates may be identified based solely on ethnicity when a strong founder effect or increased risk is present in a certain population (e.g. Ashkenazi heritage and increased risk of BRCA1/BRCA2).
As part of the process of genetic education and counseling, genetic testing may be considered when the following factors are present:
- An individual's personal history (including ethnicity) and/or family history is suspicious for a genetic predisposition to cancer.
- The genetic test has sufficient sensitivity and specificity to be interpreted.
- The test will impact the individual's diagnosis, cancer management or cancer risk management, and/or help clarify risk in family members.
A patient or family that elects to have genetic testing should receive genetic education and counseling before testing, in order to facilitate informed decision making and adaptation to the risk or condition. Genetic education and counseling gives an individual time to consider the various medical uncertainties, diagnosis, or medical management based on varied test results, and the risks, benefits, and limitations of genetic testing. At Sacred Heart Medical Oncology, existing cancer patients and family members are referred to Lori Farmer, ARNP, MS, MSN, APNG by their oncology physicians.