American Journal of Law & Medicine

Cystic Fibrosis and DNA Tests: Implications of Carrier Screening.

The powers of medical diagnosis and treatment are constantly expanding. Advances in our ability to detect the genetic traits of disease are one recent example. The advent of genetic tests that determine whether a person will develop a disease (predisposition) or will pass the disease on to offspring (carrier status), however, raises troubling legal, ethical, and financial questions.(1) In 1991, the Office of Technology Assessment ("OTA")(2) undertook a study of the implications of genetic screening -- the testing of individuals "for whom no family history of the disorder exists to determine" carrier status -- for the trait of cystic fibrosis ("CF").(3) This report, published in August 1992, contains OTA's recommendations in six areas: genetics education, genetics training for medical professionals, discrimination, laboratory and medical device regulation, instrumentation, and the integration of DNA assays into clinical practice.(4) It also incorporates original data collected through surveys of the attitudes and experiences of insurance underwriters and genetic counselors.(5)

As health care reform moves to the forefront of national politics, it is imperative that the OTA's efforts to educate Congress about the issues that these new genetic screening tools raise be evaluated. This OTA report highlights the implications of carrier screening for CF on United States health insurance reform.(6) If CF screening is treated as a paradigm for future tests that screen for genetic traits, and OTA found that the primary issues are generally applicable,(7) we can make an educated guess as to how the current health care system will handle genetic screening. If the CF test is readily accessible through clinical laboratories and doctors' offices, and knowledge of the test is widely disseminated so that providers, employers, and insurers are aware of the test, what will be the end result in our health care system?

Medical Aspects of Cystic Fibrosis

Cystic fibrosis is a disease that compromises the functioning of the sweat glands and the respiratory, gastrointestinal, and reproductive systems.(8) The disease causes the individual to produce thick, sticky mucus that obstructs the airways, leading to respiratory difficulties and lung damage. Pulmonary and heart failure is the result.(9) Digestive problems are also common.(10) CF is more prevalent in Caucasians than other population groups, with an incidence of 1 in 2,500 births in the United States.(11) CF has no cure. Treatment consists of medical management of the respiratory and digestive systems to stabilize the patient and lengthen life span.(12) In 1990, the median survival age was twenty-eight years, far longer than the survival age in the 1920s, when most infants died within two years.(13)

Medical management can prolong the lives of CF patients. Such management consists of lung therapy,(14) digestive therapy,(15) and chest physical therapy. Chest therapy, the most important approach, involves moving the mucus that blocks air passages out of the lungs by clapping on the patient's chest or back at least four times a day for twenty minutes.(16) In extreme cases, lung transplants, including double lung transplants, are used. (17) A median life expectancy of twenty-eight years may well stretch to forty years in the future.(18)

CF, Genetic Screening, and Health Insurance

CF is a genetic disease.(19) When considered in light of the life span of a CF patient, the medical therapies for CF are expensive, raising fundamental questions of insurance coverage and risk. A highly sensitive, inexpensive assay for CF carrier status is likely to emerge in the near future.(20) Thus, the OTA concluded that the question regarding CF carrier screening is when, not if, widespread screening will occur.(21) This inevitability raises the concern that a person who is a genetic carrier of CF (or other such traits) may be unable to obtain or retain insurance if insurers want to avoid covering a child who may require long-term care for CF.

OTA's Methodology

In 1991, OTA conducted a survey of commercial health insurers, Blue Cross and Blue Shield ("BC/BS") underwriters, and health maintenance organizations ("HMOs") that medically underwrite groups or write individual health insurance policies(22) "to determine how third-party payers might use genetic information in risk classification, how they would view presymptomatic, carrier, and prenatal testing, and what impact insurers project genetic tests could have on their future practices. …

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