GINA: Case Studies

In May 2008, President George W. Bush signed into law the Genetic Information Nondiscrimination Act (GINA). All aspects of the law were in effect as of November 2009. GINA was created to remove barriers to the appropriate use of genetic services by the public. GINA protects individuals from the misuse of genetic information in health insurance and employment. For more information on GINA see the overview. The following case studies provide context to explore the implications of GINA.

Case 1: GINA and Family History

A female and her six-year-old son, Sam, present to a family practitioner for routine care. Sam has neurofibromatosis (NF). Aware that NF is an autosomal dominant disorder, the physician takes a three-generation family history. Although no other family members are known to have NF, the family history reveals that Sam’s mother, maternal grandmother, and maternal great aunt have adult-onset (Type II) diabetes.

Issues

1. Under GINA, the definition of genetic information includes the presence of a disease in a family member, which includes a first-, second-, third-, or fourth- degree relative.
• Sam’s family history information related to diabetes and NF is protected under GINA. The same is true for his relatives.
• The insurer may not use family history information for underwriting purposes.
2. Given the family history, Sam is at high risk to develop Type II diabetes, and any future siblings are at risk for neurofibromatosis and Type II diabetes.
• An insurer may review medical and family history to determine eligibility for further medical surveillance, testing, or preventive care or treatment, but may not use those histories to make decisions about underwriting (i.e., coverage or premiums).
• An insurer may not use the information about Type II diabetes for Sam, but his diagnosis of NF may affect underwriting.
• For any of Sam’s undiagnosed brothers, sisters, or other family members, the family history of NF or Type II diabetes cannot be used for decisions about underwriting.

Case 2: GINA and Genetic Testing

A 25-year-old male undergoes genetic screening through a direct-to-consumer (DTC) commercial company. The results demonstrate an apolipoprotein E4 (apoE4) genotype, increasing his risk for cardiovascular disease and Alzheimer disease. The patient makes an appointment with his medical provider for a physical examination and lipid profile.

Issues:

1. The patient’s genetic profile obtained through his DTC test is protected by GINA.
2. The patient-related discussions and medical history obtained by his medical provider also are protected.
3. Because he is 25 years of age and is too young for current lipid profile screening recommendations, his insurer likely will not cover laboratory testing without review of the DTC results that demonstrate his increased cardiovascular risk by genotype.
4. The insurer can request the DTC results to determine medical necessity for lipid profile screening and surveillance, and Alzheimer surveillance later in life.
5. Under GINA, he cannot be denied health insurance because of his apoE4 genotype.

Case 3: GINA, Manifest Disease, and Predisposition

Rachel, 39 years old, presents to her internist 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 that is 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 opts for bilateral mastectomy.

Rachel’s family history is unremarkable for cancer. Her mother died at age 30 in an automobile accident. She has one sibling, a sister, who is 32 years of age. Rachel tells her sister, Stephanie, that she is at risk to have a BRCA1 mutation and may be at risk to develop cancer at an early age. Stephanie desires testing for the mutation found in her family.

Issues:

1. GINA does not prevent a health insurer from using the diagnosis of breast cancer in underwriting decisions with respect to Rachel.
2. The increased risk of other cancers based on Rachel’s BRCA1 mutation is genetic information and is protected by GINA. That fact might be immaterial in practice, however, because Rachel already has diagnosed breast cancer.
3. GINA protects Stephanie against misuse of information about a family history of hereditary breast cancer.
4. Stephanie’s insurer may request family history information to determine whether to cover the cost of BRCA testing for her.
5. GINA should not inhibit patients from sharing family history information with health care providers. Rather, the law should ease concerns about sharing information within families and with providers.

Case 4: GINA and Prenatal Issues

A 33-year-old white female presents to her primary-care provider for prenatal care at 13 weeks gestation and is offered cystic fibrosis (CF) carrier screening, which she accepts. The screening reveals that she carries the common, delta F508 CF mutation. After genetic counseling, the patient’spartner is tested and is found to carry a different CF mutation. Because the couple has a 25% chance of having a child affected with cystic fibrosis, they are offered genetic counseling and amniocentesis for prenatal diagnosis. In reviewing their options with respect to genetic testing for CF in their fetus or newborn, the couple asks whether a prenatal diagnosis of CF would constitute a pre-existing condition for their child’s health insurance after birth.

Issues

1. Under GINA, health insurance companies cannot consider genetic information a pre-existing condition.
2. All of the following genetic information is protected under GINA:
• family history of CF mutations in the parents,
• prenatal CF DNA results in the fetus,
• biochemical newborn-screening results for the infant, and
• CF DNA results for the infant.
3. If the child is born with CF, coverage decisions related to treatment may be subject to decisions by the insurance carrier.