Risks & Benefits of Genetic Testing
The ultimate goal of genetic testing is to reduce cancer mortality through timely surveillance and early intervention in those individuals with predisposing mutations. An implicit assumption in much of today’s cancer genetics risk assessment is that there is potential benefit for management recommendations based on best clinical judgment and best available data.
Testing also may identify individuals from mutation-positive families who do not carry the family’s mutations. These persons can be spared years of costly, anxiety-provoking, and sometimes invasive cancer surveillance procedures. They also may feel relief knowing that their children’s and their own risk of cancer is no greater than that of the general population.
Most of the risks associated with genetic testing are related to psychological and social implications; there are few physical risks beyond those associated with DNA collection. Mutation carriers may experience adverse psychological reactions, such as anxiety, guilt, or depression, although in most studies to date, these reactions do not appear to be severe. Those who do not carry specific family mutations may also experience emotional distress, such as survivor guilt.
Privacy and Genetic Discrimination Protections
Potential breaches of privacy and discrimination are serious concerns for those who undergo (or consider undergoing) genetic testing. Congress has recognized the importance of ensuring privacy and protecting patients from discrimination primarily through three separate laws that interact to provide a set of important safeguards:
- The Health Insurance Portability and Accountability Act (HIPAA).
- The Genetic Information Nondiscrimination Act (GINA).
- The Patient Protection and Affordable Care Act (Affordable Care Act or ACA).
Health care providers must adhere to HIPAA’s prohibitions against unauthorized disclosures of protected health information, including genetic information. As a result, in most instances disclosure of genetic information is prohibited even to family members unless authorized by the patient or otherwise permitted under HIPAA’s regulations (such as disclosure to the legal guardian of a child or mentally incompetent adult). For more information about protections included in HIPAA, please visit the Genetic Information website of the U.S. Department of Health & Human Services.
Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder. Fear of discrimination is a common concern among people considering genetic testing. Patient safeguards established and amended under HIPAA, GINA, and the ACA create a statutory framework that prohibits discriminatory health insurance practices based on genetic information by:
- Prohibiting the adjustment of a group or individual’s premium or contribution amount based on genetic information about an individual in the group, an individual seeking individual coverage, or an individual’s family members.
- Prohibiting group health plans and health insurance issuers from requesting, requiring, or purchasing genetic information for underwriting purposes. Underwriting purposes include determining eligibility for benefits, computing premium or contribution amounts, applying preexisting condition exclusions, and other activities related to the creation, renewal, or replacement of a contract for health insurance benefits.
- Prohibiting an insurer from requesting or requiring an individual to undergo genetic testing.
- Prohibiting insurers from creating rules for enrollment eligibility or (continuing enrollment) eligibility on the basis of an individual’s genetic information.
- Imposing any preexisting condition exclusions or applying lifetime coverage limitations.
In the employment context, GINA prohibits employers with 15 or more employees from using genetic information to make employment decisions or to deprive individuals of employment opportunities. GINA also prohibits employers from requesting, requiring, or purchasing genetic information about employees or their family members, unless a limited exception applies. For more information, visit the GINA website.
Further discussion of coverage provisions included in the ACA is offered in the Reimbursement Resources section of this toolkit.
Pre- and Post-Test Counseling
Genetic testing for hereditary cancer syndromes is a process that involves education and counseling with the goal of obtaining informed consent. Pre-test counseling should provide the patient with information about the testing process, medical management of the disorder, and possible impact of the test results on patients and their families. The clinician needs to ensure that proper interpretation of the results can occur. This process may require communication with the laboratory performing the analysis regarding specific details of the case or of the mutation. During post-test counseling, the clinician and/or genetic counselor provide the results to the patient, along with follow-up support and education. The cancer genetics team can then devise a plan for the best medical management of the patient based on the results and the patient’s wishes.
The informed consent process helps to ensure that patients make autonomous, voluntary decisions in light of the potential benefits, risks, and limitations of testing. ASCO recommends including the following components of informed consent for cancer susceptibility:
- Purpose of the testing
- Information on the specific genetic mutation(s) or genomic variant(s) being tested, including whether the range of risk associated with the variant will impact medical care
- Implications of a positive (mutation confirmed to be deleterious), negative (no identified change in the genetic sequence), or uncertain (genetic variant of unknown clinical significance) result
- Possibility the test will not be informative
- Risk that children and/or other family members may have inherited the genetic condition
- Technical accuracy of the test including, where required by law, licensure of the testing laboratory
- Fees involved in testing and counseling and, for Direct-To-Consumer (DTC) testing, whether the counselor is employed by the testing company
- Psychological implications of test results (benefits and risks)
- Risks and protections against genetic discrimination by employers or insurers
- Confidentiality issues, including DTC testing companies, policies related to privacy, and data security
- Possible use of DNA samples for future research
- Options and limitations of medical surveillance and strategies for prevention after genetic or genomic testing
- Importance of sharing genetic and genomic test results with at-risk relatives so that they may benefit from this information
- Plans for disclosing the test result and providing follow-up
Informing Family Members of Hereditary Risk
Unlike other forms of medical information, genetic information has important medical and ethical implications for relatives of the individual being tested. Therefore, the ways in which genetic test results may affect the family should be carefully discussed before the patient decides to have a genetic test performed.
An important ethical issue for families arises when one family member wants to know the genetic status of another family member. For example, an unaffected individual may attempt to coerce a relative with cancer to undergo genetic testing because results are more fully informative if testing begins with an affected individual. Health care providers may also attempt to influence family members to undergo testing if they feel it is in the best interests of the patient or the family. In these situations, providers must remember to respect the autonomy of each individual.
Some individuals may wish to use genetic susceptibility information to assist with reproductive decision-making or to alter the timing of childbearing. For example, a woman with a BRCA1 mutation may choose to have children at a younger age in preparation for risk-reducing salpingo-oopohorectomy. Some mutation carriers may choose not to have natural children so as to prevent passing on a deleterious mutation. The ethical implications of testing a fetus for diseases that may be curable, are not completely penetrant, and may not occur until adulthood, are immense. Some ethicists argue that prenatal testing for cancer-predisposing mutations is a step down the slippery slope toward eugenics.
Testing may also disrupt family relationships in ways that are not easily predicted. For example, some family members may wish to learn their mutation status while others do not. A family secret regarding adoption or nonpaternity may be inadvertently revealed by the results of testing.
Testing Minors for Cancer Susceptibility
Genetic testing in children raises several additional challenging concerns and offering testing to potentially affected children should take into account the probability of developing malignancy during childhood as well as available risk-reduction strategies. In general, genetic testing in children is recommended only if the test is for a childhood-onset disease for which there are known effective interventions and if the test can be adequately interpreted.
The "American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility" identifies specific concerns that should be considered in determining whether to offer testing to children (see page 2400).
The American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) released guidelines in 2013 that deal mainly with the genetic testing of children outside that of newborns:
- AAP Policy Statement: Ethical and Policy Issues in Genetic Testing and Screening of Children
- ACMG Policy Statement: Technical Report: Ethical and Policy Issues in Genetic Testing and Screening of Children
Reproductive Counseling for Cancer Patients and Families
Discussions regarding reproductive options are becoming routine when oncology providers are providing genetic testing and counseling to patients and their families affected by hereditary cancer syndromes. Improved survival rates and prospects for childbearing after cancer treatment, coupled with the increasing availability of genetic tests that predict risk of cancer and technologies that utilize genetic testing to guide reproductive choices, raise important ethical, social, and legal issues. Guidelines for individuals with inherited cancer predisposition syndromes recommend discussion or prenatal diagnosis and assisted reproduction options. In addition, where applicable, the possibility of testing the partner of the individual with inherited cancer predisposition may be considered, in order to determine the risk of having an offspring with a rare autosomnal recessive cancer predisposition syndrome, such as Fanconi anemia or constitutional mismatch repair deficiency syndrome.
- Offit, et al, 2006: Cancer Genetic Testing and Assisted Reproduction
- Offit, et al, 2006: Preimplantation Genetic Diagnosis for Cancer Syndromes: A New Challenge for Preventive Medicine
- Wang et al, 2009: Ethical, Legal and Social Implications of Prenatal and Preimplantation Genetic Testing for Cancer Susceptibility
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