Our genetic counselors provide a personalized hereditary cancer evaluation and a written risk assessment. See what’s involved in an evaluation.
The genetic counselors will discuss informed consent, family considerations, and privacy with patients during the pre-test counseling session to ensure patients make informed decisions regarding genetic testing.
Informed Consent
Informed consent is a crucial part of pre-test counseling and the following information is discussed with patients:
- Not all mutations are detectable. Detection rates vary with gene, population, type of mutation, type of genetic test performed, and laboratory. It is important to understand the limitations of tests when interpreting a negative test result.
- Genetic tests may reveal results of uncertain significance, also called variants or VUS. There may be insufficient information to determine if an alteration within a gene affects the gene function. There may also be limited information about the phenotype associated with certain genes.
- A negative result is fully informative only if a mutation has been identified in a family. Testing negative for a known familial mutation is called a “true negative” result.
- A cancer gene mutation indicates a probability, not certainty, of developing cancer.
- In many cases, there is unproven efficacy of interventions.
- Genetic testing may pose a psychological burden.
- Genetic testing may affect family relationships.
Family Considerations
- Genetic test results have the potential to impact the entire family.
- Encourage patients to discuss the fact that they are having genetic testing with family members before their results are available.
- Genetic testing is an individual’s choice. However, testing may reveal obligate carriers of hereditary cancer syndromes based on inheritance within a family.
- Individuals with identical twins should be informed that their results will provide information about their twin. Ideally, this should be discussed with the twin before results are available.
- Genetic counselors provide letters for the patient to share with family members that explain the genetic result and the implications for the family. Due to privacy laws, clinicians cannot contact family members to inform them of a familial mutation. Patients must refer their families to contact the clinician to discuss their risk and coordinate genetic testing.
- Patients must fill out release forms to share their test results with family members.
- Single site testing should be performed if a high-risk gene mutation has been identified in the family. It is imperative to have the genetic test report for the known familial mutation to ensure accuracy. Consideration for single site testing of moderate-risk gene mutations should be discussed in conjunction with personal and family history to determine if additional genetic testing is warranted for the patient.
Privacy
The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that prohibits discrimination in health coverage and employment based on genetic information. According to this law, health insurers cannot deny coverage or charge higher rates based on genetic test results. Employers also cannot make HR decisions about a person based on the genetic status. This law does not apply to disability, long-term care, and life insurance, and we encourage individuals to evaluate their coverage for those types of insurance before testing. There are a few limitations to the coverage for GINA: the military has separate regulations about genetic nondiscrimination and very small businesses are not required to comply with GINA. GINA has not yet been fully tested in court.
