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Somatic Cancer Testing and Germline Testing

DNA sequencing of tumor tissue or of circulating tumor DNA in order to identify somatic genetic variants that may be used for targeting oncologic treatments plays an important role in oncologic care.   While the goal of these assays are to inform treatment, both somatic and germline variants will be present in the DNA that is sequenced. As such, mutations identified through tumor sequencing could represent germline mutations.  For additional information, please see:

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 are required to 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. 

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[1]:

  1. Purpose of the testing

  2. 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

  3. 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

  4. Possibility the test will not be informative

  5. Risk that children and/or other family members may have inherited the genetic condition

  6. Technical accuracy of the test including, where required by law, licensure of the testing laboratory

  7. Fees involved in testing and counseling and, for Direct-To-Consumer (DTC) testing, whether the counselor is employed by the testing company

  8. Psychological implications of test results (benefits and risks)

  9. Risks and protections against genetic discrimination by employers or insurers

  10. Confidentiality issues, including DTC testing companies, policies related to privacy, and data security

  11. Possible use of DNA samples for future research

  12. Options and limitations of medical surveillance and strategies for prevention after genetic or genomic testing

  13. Importance of sharing genetic and genomic test results with at-risk relatives so that they may benefit from this information

  14. Plans for disclosing the test result and providing follow-up

[1] Lu, Karen H., et al. "American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers." Journal of Clinical Oncology 32.8 (2014): 833.

The ASCO statement, "American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer Susceptibility" identifies specific concerns that should be considered regarding informing family members of hereditary risk as well as whether or not to offer testing to children. When an individual is found to carry a pathogenic variation in a cancer predisposition gene, at a minimum, patients should be provided a copy of their genetic test results, but additional aids such as family member letters, education and support websites, and referral information for genetics providers may be helpful.  

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:

Reproductive Counseling for Cancer Patients and Families

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. Listed below are some recent publications on reproductive counseling for individuals affected by hereditary cancer syndromes.

Comments or Questions? Please contact prevention@asco.org 

Content last updated May 2019

The ideas and opinions expressed here do not necessarily reflect the opinions of the American Society of Clinical Oncology (ASCO). The mention of any product, service, or therapy herein should not be construed as an endorsement of the products mentioned. The information herein should not be relied on as being complete or accurate, nor should it be considered as inclusive of all proper treatments or methods of care or as a statement of the standard of care. The information is not continually updated and may not reflect the most recent evidence. The information addresses only the topics specifically identified therein and is not applicable to other interventions, diseases, or stages of diseases. This information does not mandate any particular course of medical care. Furthermore, the information is not intended to substitute for the independent professional judgment of the treating provider, because the information does not account for individual variation among patients. Use of the information is voluntary. ASCO provides this information on an as-is basis and makes no warranty, express or implied, regarding the information. ASCO specifically disclaims any warranties of merchantability or fitness for a particular use or purpose. Links to third party websites are provided for your convenience, and ASCO does not endorse and is not responsible for any content, advertising or other material available from such sites. ASCO assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of this information or for any errors or omissions.