Clinical genetic testing offers potential benefits regardless of whether the results are positive or negative for a gene mutation. Test results can relieve uncertainty and help people make informed decisions about their healthcare choices. For example, a negative result can eliminate the need for unnecessary checkups and screening tests. A positive result can direct a person toward prevention, monitoring, and treatment/condition management options. Test results can also help families become aware of reproductive options, while newborn screening can identify genetic disorders early in life so treatment and/or condition management can be started as early as possible.
Even though federal and state laws have been passed to assure legal protections against genetic discrimination as it relates to employment, health coverage, and insurance rates, concerns about participating in genetics research or undergoing genetic testing still troubles many patients and providers who may not be familiar with either the legislation or laboratory privacy policies.
Some of the major genetic discrimination concerns expressed by patients include:
- Could I lose my health insurance if my genetic test is positive?
- Can my employer fire me if they found out I’m at high risk for cancer?
- Will the testing lab or clinic use my results in ways I don’t know about?
- Is patient privacy the same with prescribed (clinical) genetic tests and direct-to-consumer tests, such as those offered by 23andMe?
While clinical and research genetic test results are held to high privacy standards by the testing laboratory and/or research study, consumers are pursuing direct-to-consumer ancestry and health testing and have the option to voluntarily upload their information in public databases. This raises additional concerns by consumers, such as:
- How will the data in these databases be safeguarded?
- Who has access to these databases?
- If a data-breach occurs, what legal steps can be taken?
Some of the major genetic discrimination concerns expressed by providers include:
- If I recommend genetic testing for my patient, will it put them at risk for insurance discrimination?
- Do all testing labs and genetic counseling services uniformly follow privacy laws?
- What if my patients’ employers find out they’re at high risk for certain diseases and they lose their jobs?
- Are there different privacy risks for clinical genetic testing versus research testing, such as that used in clinical studies?
Patients and providers can be assured that legal protections against genetic discrimination are in place. Patient health information, including genetic testing and family history are protected under the following laws:
Health Insurance Portability and Accountability Act of 1996 (HIPAA): The primary goals of this law are to make it easier for people to keep health insurance, protect the confidentiality and security of healthcare information, and control administrative costs. In 2013, the HIPAA Privacy Rule was modified to prohibit most health plans from using or disclosing individual or family information for underwriting purposes. This includes determining eligibility, plan benefits, coverage, and premiums.
- The portability section of HIPAA provides rules for continuity in health insurance coverage for individuals and their families if they change jobs. It limits restrictions that a group health plan can place on benefits for preexisting conditions.
- The HIPAA Privacy Rule provides federal protections for individually identifiable health information. This includes information in patient health records, conversations with care providers, billing information, and information showing that the patient is seen at the clinic.
Genetic Information Nondiscrimination Act (GINA): GINA provides the majority of Americans with a baseline level of protection against genetic discrimination in the workplace and through health insurance carriers. GINA involves regulations regarding the collection and use of genetic information as well as prohibitions on genetic discrimination. GINA does not, however, provide legal protections against genetic discrimination in other types of insurance underwriting or enrollment, including life insurance and short/long-term disability insurance.
- GINA’s protections regarding genetic information privacy say individual and group health insurance plans cannot require an individual to undergo genetic testing or request genetic information for underwriting or enrollment purposes. Additionally, most employers cannot request that an individual undergo genetic testing for hiring, termination, promotion, or placement decisions. They also cannot request information such as genetic test results or family history.
- GINA’s protections from genetic discrimination say most individual and group health insurance plans cannot use an individual’s genetic information for underwriting or enrollment purposes, although they can request genetic information to determine coverage for a specific procedure/claim (e.g., cancer screening, prophylactic surgery).
Affordable Care Act (ACA): With the passing of the ACA in 2010, GINA’s protections were further strengthened by stating that individuals cannot face health insurance discrimination on the basis of a pre-existing health condition. For example, individuals whose hereditary cancer syndrome had manifested can now be protected. This manifestation could include a malignancy such as breast cancer in a woman with a BRCA1/2 mutation, or a pre-malignant lesion such as a colon polyp in an individual with familial adenomatous polyposis, or a benign feature such as macrocephaly in a man with Cowden syndrome.
Americans with Disabilities Act (ADA): The primary purpose of the ADA is to prevent discrimination against individuals with disabilities in the workplace and to set enforceable standards for accessibility in public and commercial buildings, transportation, and communication services. It provides some limited protections against genetic discrimination concerning hereditary cancer predispositions to individuals employed by an employer with 15 or more employees. Some state laws also ban employers from discriminating against individuals on the basis of disability. If an individual has a genetic disease that causes symptoms which significantly impair a person’s ability to perform one or more functions, then their disease qualifies as a disability under the ADA. This affords an individual protection from employment discrimination under the ADA, as long as the person is able to perform the duties of their job with reasonable accommodations.
State laws: Prior to the enactment of GINA in 2008, many states had laws prohibiting genetic discrimination. One difficulty is that the laws were a patchwork, differing from state to state. For example, some only extend protection to people with individual healthcare policies and not group policies, or vice versa, or focus only on requiring patient consent before genetic information can be shared with a health insurance company. GINA now provides a baseline level of protection against genetic discrimination nationwide and does not pre-empt state laws that offer even stricter protections.
Removing Obstacles to Optimal Medical Care
It’s important that patients who are likely to benefit from genetic testing but are reluctant due to privacy concerns gain reassurance from their doctors and other trusted health advisors. Here are some things healthcare providers can do:
- Understand federal and state laws that protect against genetic discrimination and have a summary available for patients, including where they can find additional information.
- Talk with patients about their privacy concerns and help them understand legal protections and risks.
- Reassure patients that they may opt in or out of genetic testing.
- Advise patients that only de-identified information can be shared without their express written permission.
- Educate patients about clinical-level information privacy practices.
- Reassure patients that genetic testing labs and counseling services are held to the highest standards of patient privacy.
Communicating Test Results
Communicating a genetic test result to a patient is important in making joint medical management decisions. Physicians also have a duty to warn patients of genetic findings and the fact that relatives are at risk for a genetically transferrable condition. Medical providers cannot, however, inform relatives without express patient permission.
The Important Role of Genetic Counseling
Board-certified genetic counselors (GCs) are uniquely qualified to interpret family histories through multiple generations and enable patients to make informed decisions regarding their healthcare. Because the counseling that we provide at InformedDNA has always been through a telehealth model (since 2007), patients have unprecedented access to genetics experts from the comfort of home. In addition to reassuring patients of their privacy rights, GCs explore:
- Why a patient is seeking testing
- How to mentally and emotionally prepare for all possible results
- Who else in the family may be at risk
- Other personal concerns
Discussing genetic risks with a trained clinical counselor — before and after testing — helps empower patients and remove obstacles to optimal levels of care.
Privacy Policies for Select Genetic Testing Labs
- Privacy in Genomics
- Direct-to-Consumer Genomic Testing
- What You Need to Know about Direct-to-Consumer Genetic Testing
- Compliance Group: HIPAA Genetic Information
- Patient Access, Privacy Vital for Integrating Genomic Data in the EHR
- Genetics in Medicine: The Interface of Genomic Information with the Electronic Health Record
- National Human Genome Research Institute
- S. Department of Health and Human Services Genetic Information
- American Society of Human Genetics
- National Society of Genetic Counselors
- Dark Daily article: “With Consumer Demand for Ancestry and Genealogy Genetic Tests Waning, Leading Genomics Companies are Investigating Ways to Commercialize the Aggregated Genetics Data They Have Collected”