GINA: Case Studies

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.
• A health insurer may review medical and family history to determine eligibility for further medical surveillance, testing, or preventive care or treatment but, under GINA, may not use those histories to make decisions about underwriting (i.e., coverage or premiums).
• Under GINA a health insurer may not use the information about Type II diabetes for underwriting or coverage for Sam. Under the current ACA, an insurer may not use Sam's preexisting condition of NF for underwriting purposes.
• 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 undergoes genetic screening through a direct-to-consumer (DTC) commercial company. The results demonstrate an apolipoprotein E4 (apoE4) genotype, increasing their risk for cardiovascular disease and Alzheimer disease. The patient makes an appointment with their medical provider for a physical examination and lipid profile.

Issues:

1. The patient’s genetic profile obtained through the DTC test is protected by GINA.
2. The patient-related discussions and medical history obtained by the medical provider also are protected.
3. Because the patient is 25 years of age and is too young for current lipid profile screening recommendations, the insurer likely will not cover laboratory testing without review of the DTC results that demonstrate an 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, the patient cannot be denied health insurance, nor can their rates be increase because of their 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 aBRCA1 pathogenic variant. After review of her options, she opts for bilateral mastectomy.

Issues:

1. While GINA does not apply to diagnosed conditions, she is protected under the ACA pre-existing conditions provisions.
2. The increased risk of other cancers based on Rachel’s BRCA1 mutation is genetic information and is protected by GINA.
3. GINA protects Stephanie against the use of family history or genetic information by employes or insurers to make coverage or rate decisions.
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 healthcare 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 mutation in the CFTR gene responsible for cystic fibrosis. After genetic counseling, the patient’spartner is tested and is found to carry a different CFTR gene 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 cystic fibrosis in their fetus or newborn, the couple asks whether a prenatal diagnosis of cystic fibrosis 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 cystic fibrosis mutations in the parents,
• prenatal cystic fibrosis DNA results in the fetus,
• biochemical newborn-screening results for the infant, and
• cystic fibrosis DNA test results for the infant.
3. If the child is born with cystic fibrosis, coverage decisions related to treatment may be subject to decisions by the insurance carrier.