Rachel, a 39-year-old woman, presents to her family practice PA after finding a mass in the upper outer quadrant of her right breast. She is referred to an oncologist for evaluation and undergoes a biopsy. The results are positive for invasive breast cancer. Because of her young age at presentation and her Ashkenazi Jewish heritage, Rachel is referred for genetic counseling and testing and is found to carry a BRCA1 mutation. After review of her options, she chooses to undergo bilateral mastectomy.1
Rachel's family history is unremarkable for cancer (Figure 1). Her mother died at age 30 in an automobile accident. She has one sibling, a 32-year-old sister. Rachel tells her sister, Stephanie, that she may also carry the BRCA1 mutation and may be at risk of developing cancer at an early age. Stephanie wants to be tested for the mutation that was found in her sister.1
Can you answer these questions? How might Rachel's diagnosis of breast cancer and her status as a carrier of a BRCA1 mutation influence her health insurer's underwriting decisions? Can Stephanie's health insurer use Rachel's diagnosis or BRCA1 status to deny coverage or charge higher premiums? The BRCA1 mutation may imply a higher risk for other cancers (eg, ovarian cancer). Can Rachel's health insurer use her BRCA1 status to make underwriting decisions with respect to that risk?
The Genetic Information Nondiscrimination Act (GINA) was signed into law by President George W. Bush on May 21, 2008, after a 13-year legislative journey.2 GINA was hailed as the first major new civil rights bill of the new century by the late Senator Edward Kennedy (D, Massachusetts). He is further quoted as saying, "Discrimination in health insurance and the fear of potential discrimination threaten both society's ability to use new genetic technologies to improve human health and the ability to conduct the very research we need to understand, treat, and prevent genetic disease."2
GINA was conceived when genetic testing was in its infancy, and proponents of the legislation saw it as essential to allay potential public fears of genetic discrimination and to promote genetic testing and participation in genetic research. Although advocates in the medical and genetics communities were understandably elated with the passage of GINA, its impact on practice is as yet unclear and still needs elucidation. This article intends to clarify the protections GINA provides with some illustrative examples and reveal some of its deficits, including caveats to keep in mind when determining what may be best for your patient.
WHAT DOES GINA COVER?
Title I: Genetic Nondiscrimination in Health Insurance, which took effect on May 21, 2009, protects against genetic discrimination in health insurance. Providers of individual, group, Medicare supplemental, or other health insurance policies cannot use genetic information to determine eligibility, coverage, underwriting, or premium amounts. Furthermore, health insurance providers cannot request or require a person to undergo genetic testing as a condition of insurance.3
Title II: Genetic Nondiscrimination in Employment, which took effect on November 21, 2009, prohibits employers from using genetic information to make decisions about hiring, firing, or promotion. Decisions in regard to compensation, terms, conditions, or privileges of employment also cannot be based on genetic information. Furthermore, employers cannot request or require an employee to undergo genetic testing, nor can they purchase genetic information about an employee or their family members.3
WHAT IS GENETIC INFORMATION?
GINA specifically defines genetic information (Definition of genetic information). The statute also defines genetic testing as an analysis of human DNA, RNA, chromosomes, proteins, or metabolites that detects genotypes, mutations, or chromosomal changes.3 Health care providers should note especially that family medical history is a form of genetic information and is covered by GINA.
The following types of genetic testing are protected by GINA: prenatal genetic testing, carrier testing, susceptibility testing, and genetic tumor analysis.3Table 1 lists examples of genetic tests covered by GINA.
As clinicians are fully aware, biochemical indices, such as cholesterol level measurements, and family history, reveal genetic risk information for a patient. Protein and metabolite analyses that are not DNA-, RNA-, or otherwise based can also reveal a genetic condition. The evolution of genetic testing to include tests that are not necessarily defined as the law reads is not only plausible but certain. Health care providers need to be knowledgeable about the definitions of genetic information and genetic testing to provide quality care for their patients.
WHAT GINA DOES NOT COVER
Although GINA prohibits health insurance carriers and employers from using genetic information when making many decisions, none of its protections apply to life, long-term care, or disability insurance. In addition, health insurance carriers currently have no legal obligation to pay for genetic tests or for the preventive measures that test results might indicate.
One of the more perplexing issues is that GINA does not protect patients based on genetic information about a manifested disease, disorder, or pathologic condition.3 In other words, until health care reform dictates otherwise, after a genetic condition is diagnosed, the patient's case will be underwritten or evaluated in the same way as any other case that involves a higher-risk medical diagnosis. In the context of individual health insurance policies, GINA prohibits discrimination against a person whose risk for disease—for example, breast or colon cancer—is genetically increased. However, GINA would not apply if the person later develops cancer. GINA does not protect information about a patient's current health status.
Employment protections also have some limits. For example, the law applies only to employers with more than 15 employees. In addition, the law does not prohibit an employer from accessing all genetic information. For instance, an employer could garner familial risk information from employer-sponsored wellness programs. Although this may not be a legal use of the information, its use for employment decisions is possible.
Last, GINA does not apply to certain groups, including members of the United States military, veterans obtaining health care through the US Department of Veteran's Affairs, persons using the Indian Health Service, and federal employees enrolled in the Federal Employees Health Benefits (FEHB) Program. The military and veterans' health care systems have their own policies that provide protections similar to those in GINA. Federal employees participating in the FEHB Program are likewise protected by Executive Order 13145 of the year 2000.3