Introduction

Privacy is defined by Webster's International Dictionary as the freedom from unauthorized oversight or observation, a freedom that we used to be able to take for granted when consulting a physician. The technological changes in record keeping and the requirements of third party payers to maintain such records have eliminated the privacy of medical records as we once knew it. A variety of health care and administrative personnel can access an individual's billing records where the diagnostic codes reveal their medical conditions. For example the Harvard Community Health Plan had been putting clinical notes from psychiatric counseling sessions into a computerized data base, a data base accessible to many of the health plan's employees (Woodward 1995). In early 1997 computer disks with thousands of Florida patients with HIV - AIDS were mailed anonymously to Tampa area newspapers. South eastern Pennsylvania Transit Authority's Chief Administrative Officer asked for and received a list of prescriptions costing over $100. He matched them with social security numbers to identify all employees of the Authority being treated for HIV - AIDS and shared this with his co-workers (Schwartz 1997).

Information about what has already happened is not the only aspect of one's health which is no longer strictly privileged. Information about your future health in the form of genetic information is also vulnerable. Genetic information includes information about genes, gene products, or inherited characteristics that may derive from the individual or family member. While the latter has always been available, the former, information about an individual's specific genes, will soon become readily obtainable. It is this important change, the ability to collect predictive information in the form of human genes with their implied prognostic value, that places us all at risk. The risk is for new and serious forms of personal discrimination, and the risk of impeding medical science from utilizing this information for the design more effective health interventions.

New technologies create new problems

The problem of genetic privacy has become more acute as a result of the Human Genome Project. This 15 year program jointly funded by the National Institutes of Health (NIH) and the Department of Energy (DOE), will soon have identified and chemically analyzed all 23 pairs of human chromosomes and sequenced the 3 billion nucleotide bases which comprise them.

At a symposium organized by the Institute of Medicine, in Washington D.C. in the spring of 1996 the progress of the project was reviewed. At that time 50 % of the human genome had been mapped. The project expects to be completed by the year 2000.

While a map of the entire human genome has obvious utility it also creates a new set of dilemmas. One is how to interpret the knowledge that an individual possesses an abnormal gene. The potential to define an illness or the predisposition for an illness by the presence of genetic information rather than clinical symptoms or signs creates an entirely new classification of patients the "asymptomatic Ill" (Billings 1993). The question emerges: what does the term "illness" now mean?

Special characteristics of genetic information

Historically one's medical information has been considered confidential. Genetic information has special qualities which set it apart from the rest of one's medical history. DNA's instructions do not change substantially over one's lifetime, so unlike other data it is unlikely to become modified. Therefore like gender and race it is not amenable to change by the individual. From genetic information one can also determine other attributes about an individual, such as their gender or ethnicity. Armed with genetic information, the relative risks for certain clinical conditions can be calculated making prognosis more accurate, however for many cases of genetic illness we have no effective intervention.

Physicians recognize that describing a patients characteristics solely on the basis of genetic data is too simplified. An abnormal gene residing in DNA may never manifest itself as disease. People are more than the sum of their genes. The interpretation of genetic tests requires experience and a strong understanding of human biology. For example, maternal blood can be tested at 10 to 12 weeks of gestation for the presence of fetal cells and these cells analyzed for the presence of genetic disorders. Fetal cells from a previous pregnancy however, may remain in maternal circulation for as long as 27 years. It is not possible to determine which fetal cells are from the current pregnancy.

The presence in women of a mutation of the BRCA1 gene, confers an increased risk for the development of breast, ovarian, colon and in males prostate cancer. Forty-five percent of familial breast cancers are linked to this gene. The cumulative risk of breast cancer among gene carriers is: 51 % at age 50; and 85 % at age 70. For women with the gene who have unilateral breast cancer there is a 48 % risk of developing contralateral disease by age 50. This risk rises to 64 % by age 70. The risk of ovarian cancer in these same women is 29 % by age 50, and 44 % by age 70. The risk of colon cancer is also increased by a factor of 4. Men who carry this mutation have an increased risk of prostate cancer of 3.3.

Despite the strong association of cancer and BRCA1 mutations the interpretation of a positive test is not so simple. One hundred and thirty two distinct mutations of the gene have been identified. This coupled with the large size of the gene has made cloning thus far impossible. In addition there are several families with strong evidence of BRCA1 linkage in whom no mutation has been identified. The presence of the abnormal gene alone may increase risk but does not confer disease (Greene 1997).

Even with these limitations genetic information is being used to discriminate against persons considered statistically at risk for illness. The high cost of medical care means that health insurance is required for persons to have access to care. Insurers have long used risk factors such as age, obesity and smoking to determine how much to charge for coverage. As the ability to predict the future risk of disease for an individual increases, many of us may become uninsurable on the basis of genetic information. This has led to the development of the NIH - DOE Working Group on Ethical, Legal, and Social Implications (ELSI) of the Human Genome Project. A portion of the funding for the Human Genome Project has been set aside for this group to analyze these issues.

Current evidence of genetic discrimination

Genetic discrimination is not new. In the 1970's a number of insurance companies denied coverage to African Americans who were carriers of the gene for Sickle Cell Anemia (SS Hg) or Trait (SA Hg.) (Andrews 1987). A number of institutions are currently engaged in genetic discrimination against asymptomatic individuals: health and life insurance companies, health care providers, blood banks, adoption agencies, the armed forces, and schools. The Genetic Screening Study Group has documented over 200 cases of healthy persons refused insurance, fired from their jobs, or barred from adopting children on the basis of their genes. Twenty two percent of persons surveyed who had a family member with a genetic condition, had been refused health insurance because of that fact, (Billings et al. 1992).

The Council for Responsible Genetics (CRG, a private non profit bioethics advocacy group based in Massachusetts), has documented some remarkable cases of discrimination.

· A pregnant woman whose fetus tested positive for cystic fibrosis was instructed that her health maintenance organization (HMO) would pay for an abortion, but not cover any of the infant's medical expenses if carried to term.

· An enlisted army man developed symptoms of a genetic disorder and was discharged. He was also denied benefits because as a genetic disorder it was considered a pre-existing condition.

· Marine corporals Joseph Vlacovsky and John Mayfield were threatened with court martial for refusing to submit a DNA sample. The Pentagon has collected more than one million DNA samples from civilian and active duty military personnel. They are stored for 75 years in a data bank in Gaithersberg Maryland.

· A woman was denied disability insurance when the company found a note about her father's Huntington's Disease (HD), written in the margin of her medial records.

· A 24 year old social worker was fired after revealing to her employer that a family member had Huntington's Disease, even though she had received 3 promotions and an outstanding performance review in the months prior to dismissal.

· An applicant was refused admission to medial school because they were at risk for Huntington's disease, (National Commission for the Control of Huntington's 1977).

· A woman whose mother tested positive for the BRCA1 gene was denied health insurance coverage for breast cancer (Andrews 1995, Council for Responsible Genetics news release 1996)

Consequences of genetic discrimination

The fear of discrimination has led many persons to refuse genetic testing. This may protect them from contemporary discrimination, but it reduces their ability to take advantage of potential options (to become pregnant etc.) or to take advantage of medical interventions.

For example the autosomal recessive disorder cystic fibrosis (CF), can be predicted by genetic testing. An abnormality on chromosome 7 results in a protein which is not glycosylated and is retained by the Golgi apparatus therefore not becoming transferred to the cell membrane. The defective membrane has decreased chloride and increased sodium absorption and hence alters respiratory and pancreatic secretions. The disease can be managed but not cured. The current mean survival of CF patients is 28.3 years.

The knowledge of the defect has lead to attempts to repair the defective protein. Using viral or liposomal vectors to carry a corrected gene, researchers have temporarily improved the respiratory function of human patients and the function of human intrahepatic biliary cells in tissue culture. Though the duration of the improvement is thus far short lived, the potential to successfully treat CF is relatively near. If policies of health insurers discriminate against families with the potential for bearing children with cystic fibrosis the number of opportunities to test these interventions will diminish, and hence the opportunity for potential cure.

The focus on genetics as a primary disease etiology may come at the expense of attention to other factors such as environmental hazards (such as air and water pollution), and risky personal behaviors (smoking and failure to use seat belts). The result could be diminished efforts to reduce environmental pollution, workplace hazards, and health education.

The increased use of prenatal genetic testing could conceivably increase demand for therapeutic abortions at a time when there is greater political pressure to reduce abortion rates.

Current legal climate

There is no expressed constitutional right to privacy. In Whalen v. Roe the Supreme Court found that there is a right to informational privacy, but this is limited by judicial deference, (Whalen v. Roe 429 U.S. 589 1977).

The Privacy Act of 1974 prohibits the disclosure of records maintained on individuals by the federal government. There are some exceptions however. The Freedom of Information Act (FOIA 5 U.S.C. 552) established the right of individual access to records maintained by the executive branch only.

The Americans with Disabilities Act (ADA 42 U.S.C. 12101) prevents discrimination against an individual with a disability in: employment; public services; public accommodations and communications. This has been interpreted by the Equal Employment Opportunities Commission (EEOC) as including genetic information relative to illness, disease or other disorders. The definition of disability requires one of 3 components: 1- a physical or mental impairment; 2- a record or history of such impairment; 3- being regarded as having an impairment. It is under this last provision that discrimination based on genetic information is prohibited.

Individuals may not be discriminated against simply because they may not be qualified for a job in the future. Determination of qualifications must be made at the time of initial employment. Potential increased health care costs incurred by children of employees are not grounds for discrimination.

Thirteen states including Oregon, have statues addressing genetic issues. These vary widely. Some such as North Carolina, prohibit discrimination based on a particular trait, Sickle Cell Anemia. Eight states offer protection against genetic discrimination in health insurance. Two Oregon and California, also prohibit insurers from requesting or disclosing genetic information without the patient's authorization.

These protections not only cover a small number of states but are limited by 2 factors the Employee Retirement Income Security Act (ERISA), and the focus primarily on genetic tests. ERISA exempts self funded plans from state insurance laws. Nationally these plans cover approximately one third of the non elderly insured eliminating a significant proportion of the population. Most state law focuses on genetic tests. Genetic information covers data from physical examination, family history, and other biological testing. Limiting the protection to genetic testing covers DNA testing but not the gene product.

Legislative efforts

For these reasons federal legislation is required which offers protection to all Americans regardless of state of residence or ERISA coverage.

Former Senator, Mark O. Hatfield recognized these problems and introduced the Genetic Privacy Act of 1996 to prevent the collection, use, or disclosure of genetic information without the expressed written consent of the patient. There were exceptions for the identification of the dead, and for court ordered legal purposes. It also would have established a commission to evaluate and make recommendations about the impact of the uses of genetic information and to address such issues as the physicians "duty to warn" in the setting in which others may be effected by such information.

This legislation was not successful in the 104th Congress. The Kennedy Kassebaum Health Insurance Portability Act did pass and it contains protections against genetic discrimination for those persons transferring their insurance when they change jobs. This protection only covers a small proportion of the population. It is hoped that further genetic protection it will be addressed in the 105th Congress. Failure to do so will permit the amplification of discrimination against persons with perceived genetic risk. Many perceive this as a particularly onerous form of discrimination because it is based on factors beyond an individuals control. Historically our society has opposed discrimination based on things which are intrinsic to an individual, things a person cannot effect or change such as race or gender. Genetic information is by definition in this same category.

If persons by virtue of fear of stigmatization refuse to participate in genetic testing, medical science will be unable to accurately determine prevalence and risks. More importantly we will be severely hampered in the development of interventions, interventions which may reduce suffering and potentially eliminate many disorders we now think of as genetic and incurable.

Guidelines

The prevalence of genetic conditions in neurology, particularly Huntington's Disease, has forced this specialty to face the consequences of genetic testing. This universally fatal disorder is inherited as an autosomal dominant with 100 % penetrance. All children of affected parents have a 50 % risk of the disease. The gene has been located on chromosome 4. A number of genetic markers D4S10, D4S43, and D4S95 have been linked to the gene. These markers can identify only a particular haplotype characteristic of a given family. Therefore a sufficient number of family members must first be tested to identify the haplotype that can then be studied in the at risk relatives. In these settings persons testing positive increase their risk for developing the disease from 50 to 95 %.

The availability of tests for an untreatable disease has troubling implications. Commercial genetic tests are increasingly available, but as is the case in Huntington's they may not have much predictive value if family members are not tested. Some genotypes may not absolutely predict disease and have little utility, and once a test is performed and in the medical record it is fair game for insurers and employers who may use it to the patient's disadvantage.

The Academy of Neurology has therefore established the following practice parameters.

1- One needs to consider the predictive power of the test, what it implies about the probabilities of developing a clinical illness.

2- Counseling must be available for patients before testing is performed.

3- Persons must give informed consent.

4- Consequences of a positive test must be determined:

Negative consequences:

Emotional distress

Stigmatization

Loss of insurance or employment

Positive consequences

Benefits of enhanced knowledge

Negative consequences of not testing:

Transmission of disease

5- Confidentiality

No disclosure should be made without explicit written consent.

Summary

We find that our technological capabilities often outpace our ability to use them well. No sensible person would inhibit the mapping of the human genome and identification of genetic markers for disease. When policy decisions are driven primarily by the hope of short term profits they may have unfortunate outcomes for society as a whole.

The push for the use of genetic information by insurers to limit their liability is such a policy. It is all the more inappropriate when we stop to realize that genetic disease is not epidemic. There is no evidence that the rates or prevalence is changing. Persons with these disorders are currently in the insurance "pool". Their elimination does not modify the prevalence of the disorder or reduce the human suffering or economic impact on the rest of the health care system which must somehow find ways to care for the uninsured. What such a policy does do is increase profits for specific insurance plans, and reduce the access of researchers to potential subjects. Access which may not only assist individual patients, but which may lead to better therapies for all of us. Physicians and biomedical scientists need to resist this trend and push for more effective protection of our patient's genetic information.

Bibliography

Andrews L. Medical Genetics: A legal frontier. American Bar Foundation, Chicago, Ill. 1987.

Andrews L.B., Genetic Privacy: From the laboratory to the legislature. Genome Research. 1995; 5:209-213.

Billings P.R., Kohn M.A., de Cuevas M., et al. Discrimination as a consequence of genetic testing. Am J. Gen. 1992; 50:476-482.

Billings P.R. Genetic Discrimination. Health Care Forum Journal. 1993; September/October, pp:37-39.

Colledge W.H., Cystic Fibrosis Gene Therapy. Current Opinion in Genetics and Development .1994, 4:455-471.

Council for Responsible Genetics. News Release. Cambridge , Massachusetts. April 9, 1996.

Hudson K.L., Rothenberg K.H., Andrews L.B. Kahn M.J.E., Collins F.S. Genetic Discrimination and Health Insurance: An Urgent Need for Reform. Science. 1995; 270:391-393.

Genetics Testing Task Force. Practice Parameter: Genetic Testing Alert. Neurology. 1996; 47:1343-1344.

Greens M.H. Genetics of Breast Cancer. Mayo Clin Proc. 1997; 72:54-65.

Laphram E.V. Weiss J.O., Human Genome Model Project, preliminary results of a survey of persons with a genetic disorder in the family.

Marelich G.P., Cross C.E. Cystic Fibrosis in Adults from Researcher to Practitioner. Western Journal of Medicine. 1996,;164:321-334.

Schwartz J., When Private Goes Public. The Washington Post National Weekly Edition. January 27, 1997. PP:22-23.

Woodward B. Patient's Privacy at Risk. New York Times. 11/15/95

Mark S. Yerby M.D., M.P.H.
North Pacific Epilepsy Research
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