Should Genetic Information Be Protected?

“Science has the capacity to store a million fragments of DNA on a silicon microchip. Each DNA chip is loaded with information about human genes. When a component of a patient’s blood is placed on the chip, it reveals specific information about the individual’s health and genetic composition, potentially ranging from a carrier state or a future disease, to genetic relationships” (Gostin, 1995). The technology can facilitate research, screening, and treatment of genetic conditions, but it may also permit a reduction in privacy through its capacity to inexpensively store and decipher unimaginable quantities of highly sensitive data (Id.). Genetic information has the potential to contribute to improvements in the health of individuals, groups, and societies. It may enable people to avoid illness through early detection, intervention, and possible gene therapy. It can affect reproduction by providing information that will either encourage or discourage couples in deciding whether to bear children. At the same time, however, for people at risk for a genetic disease, the question of whether to undergo genetic testing is troubling. The possibility of learning that one is not at high risk for a certain disease or disorder must be weighed against the prospect that one might have to learn to live with the opposite result (Smith, Quaid, Dworkin, Gramelspacher, Granbois, and Vance, 1998).

The rapid advances in computer and telecommunications technology have taken individual records and papers from the private sector into the public domain. The individual no longer has the right to exercise control over even the most private details of her life, in derogation of her right to control the free flow of truthful information in a democratic society. It has been asserted that the sharing of information by all government agencies may actually be undermining the constitutional theory of checks and balances (Burnham, 1984). Genetic testing may also disclose information about individuals that they themselves do not wish to know. This may also apply to family members. Balancing confidentiality and autonomy against privacy, integrity, and self-determination reveal that the solutions are not clear-cut. Privacy concerns are central in public debates over whether and how we ought to collect, store, use, and share genetic information. Genetic science challenges expectations of the confidentiality, secrecy, and anonymity of genetic information about individuals.

Widespread ability of science to uncover genetic predispositions and one’s very identity through genetic research has significant implications for individuals, their families, and society as a whole. Genetic information often affects the central aspects of our lives. Because genes are usually considered immutable and central to the determination of who a person is, information about genetic mutations may cause a person to change his or her self-image and may alter the way others treat that person. (Andrews, 1997). Genetic research is lauded by some; others fear that information obtained will be misused or misunderstood, leading to legal and ethical obstacles.

Genetic information is medical information and as such is entitled to confidentiality. [2] Records of genetic research may be deliberately or inadvertently placed in an individual’s medical record, thereby raising many of the same issues and concerns as medical records generated in the clinical setting (Weiss, 1998; Rothstein, 1997). Because genetic information is both individual and familial, however, there is a conflict between the duty to protect confidentiality and the duty to warn. There appears to be a duty to inform the patient about potential genetic risks to self and relatives, but other factors may supersede or limit that duty. In certain cases where the results of genetic testing may impact the patient’s well-being, or in cases where the patient has experienced a traumatic personal experience (such as the death of a close family member) between the time of testing and the time of disclosure, the physician or counselor is justified in withholding test results. The decision to withhold information must be based on “specific, articulable information” and the basis of a professional judgment rather than intuition (Smith et al., 1998).

A significant number of critics who maintain that genetic information should remain confidential point to historical abuses: involuntary sterilization of people with mental retardation around the turn of the century, and Nazi abuse and misrepresentation in pursuit of eugenic goals (Suter, 1993). Fear that knowledge of one’s genetic make-up and predisposition will stigmatize the person affected and her family, causing diminished or lost employment opportunities and denial of insurance coverage as well as an undesirable invasion of privacy are frequently voiced concerns (Andrews and Jaeger, 1991). Moreover, many at-risk individuals may forego genetic testing because they fear denial of future employment opportunities. Miller (1998) notes that in a 1997 national survey of 1,000 people conducted by the federally funded National Center for Genome Resources nearly two-thirds of respondents indicated that they would not take a genetic test if employers and health insurers could see results, and 85 percent felt that employers should be prohibited from obtaining information about employees’ genetic conditions and predispositions. He also cited a 1995 poll of the general public indicating that over 85 percent of respondents were very concerned or somewhat concerned about access and use of genetic information by employers and insurers. A Georgetown University survey of 332 individuals with one or more family members with a genetic disorder who were affiliated with genetic support groups revealed that 87 percent said that they would not want their employers to know if they were tested and found to be at high risk; 17 percent admitted that they have not revealed known genetic information to their employers, fearing loss of employment or insurance coverage (Id.).

Conflicting views among ethicists reveal that some advocate limiting disclosure to test data directly relevant to health, asserting that genetic test results concerning non-paternity or fetal sex can be withheld if necessary to protect one’s vulnerability, as in the case of minors (Allen, 1997). Others favor disclosure of all clinically relevant information that may affect an individual’s health (Id.). The American Society of Human Genetics (ASHG) takes the position that those performing genetic testing for their patients have a “privilege” to disclose genetic risk information directly to relatives of a patient if necessary to mitigate a serious risk of harm to family members. In less critical situations, confidentiality of genetic information should be maintained. That position is consistent with the policy positions of the President’s Commission on Ethical Issues in Medicine and Biomedical and Behavioral Research and the Institute of Medicine’s Committee on Assessing Genetic Risks, which allow disclosure only when the condition is “serious” (defined by the IOM committee as “irreversible or fatal”), and attempts to elicit voluntary disclosure have failed. Therefore, in extreme cases, physicians may be privileged to violate a patient’s privacy if justified by the likely reduction of imminent risk of harm to an identifiable third party. The ASHG Social Issues Subcommittee on Familial Disclosure concluded that the few court cases in this area “may indicate an increasing trend toward disclosure.” The American Medical Association endorses breaches of confidence regarding medical information when “provided for by laws or by the need to protect the welfare of the individual or the public interest” (Deftos, 1998). There is, therefore, consistent support from medical, scientific, and legal bodies for disclosure of genetic information to third parties (Id.).

Third parties, such as insurers or employers, who have access to general data, may try to use that information to determine whether a prospective employee is predisposed to disability, lack of productivity, or absenteeism. This misuse of information can be based on data such as test results that are “inconclusive” or “negative” or “positive” results indicating a predisposition or increased risk that may never materialize. Many other additional factors, ranging from diet to stress, contribute to the final outcome. Additionally, screening leads to the creation of an entire class of “unemployable” people. Use of genetic tests by insurers may also lead to a class of “uninsurable” people. These “undesirable” traits can follow people like “scarlet letters”, handed down from generation to generation (Cavoukian and Tapscott, 1997; Draper, 1995). As genetic information accumulates, people will find themselves stigmatized, sometimes with dire consequences. Research may also indicate the propensity of certain genetic traits to be present in particular ethnic or racial groups, such as the breast cancer gene (BRCA1) in Ashkenazic Jewish women. The individual subject as well as other group members may be harmed by the accumulation of group data (Rothstein, 1997).

The ease of obtaining an individual’s decoded genetic profile leaves the individual vulnerable to consequences of use and abuse by others, despite state laws and the Americans with Disabilities Act (1994 and Supp. 1996) (ADA), which prohibit discrimination in employment based on disability. Once researches identify a gene that induces Alzheimer’s disease, alcoholism, or coronary artery disease, for example, employers may want to test their employees or applicants to detect those who are at risk for developing the disease. The history of employment discrimination against those with HIV, epilepsy, and cancer indicates problems that may be faced by those with identifiable predispositions for the disease (Orentlicher, 1990). Potential consequences regarding employment or employability, however, cannot be ignored, as more than one-half of a sample of Fortune 500 companies admitted using medical records about personnel in making employment-related decisions; more than one-third used personal medical information as a basis for hiring, promotion, and firing (Dowd, 1997; Linowes, 1989). In 1996, 35 percent of the Fortune 500 companies acknowledged using personal health information in employment decisions (Etzioni, 1999). Miller (1998) indicates that while no statistically significant studies measuring the extent of actual genetic discrimination in the workplace exist, studies that have been conducted are based in large part on individuals’ perceptions of discrimination; however, anecdotal evidence has been compiled. A 1996 study conducted by a team of medical researchers documented more than 200 cases of individuals with a genetic predisposition who were asymptomatic reporting a number of discriminatory actions by insurance companies and employers.

As Orentlicher (1990) points out, however, “employers may have some interests in knowing whether an employee has a genetic risk of disease...particularly...when the public’s safety is at stake. Society, then, will be faced with a conflict between an individual’s right to privacy in his or her genetic composition and the employer’s interest in knowing about its workers’ health problems.” Beckwith and Alper (1998) concur, stating: “It is not surprising that genetic information is used by health and life insurance companies in making underwriting decisions. From the perspective of these companies, genetic information should be used in exactly the same way as all other types of predictive medical information. In fact, insurers argue that not using genetic information is irrational because it results in unfairly high premiums for those without genetic diseases.” In studies of genetic discrimination, however, applications for insurance policies were rejected for reasons that reflect serious misunderstandings of genetic disease (Id.). The fact that an individual would impose higher health care costs on an employer is not a sound basis for denying employment. “Society actually benefits economically when the disabled [due to a genetic predisposition] are working. Equity and justice are satisfied” (Orentlicher, 1990). When an individual at risk for disease is employed in a position that affects public safety, such as a physician or airline pilot, an employer may wish to screen for Alzheimer’s disease. A gene may be present but “silent,” or its effect may not become manifest for some time nor pose any increased safety risk. In those situations, persons may be denied employment far ahead of posing any safety risk (Id.). In assessing risk of harm to others, courts look at several relevant factors: the nature of the disabilities caused by the gene, the probabilities that the gene will become manifest and cause disability, the imminence of the risk, and its severity. School Board of Nassau County v. Arline (1987). Courts generally defer to the public health officials’ determination in assessing risk.

With reference to insurers, the question arises concerning whether genetic data is used by insurance companies for purposes of risk screening. Although not independently conducting testing themselves, insurers acknowledge an interest in accessing information collected by others (Kass, 1997). The assumption is that those who seek genetic testing do so because of knowledge of increased risk because of family history. Data is also available from medical records which are routinely forwarded to insurance companies in their entirety and with no omissions. Insurance companies also have underwriting guidelines for certain genetic conditions and routinely elicit information relating to the applicant’s family history. Miller (1998) cites a 1989 survey of 400 employers by Northwest Life Insurance that indicated that by the year 2000, 15 percent of employers plan to check the genetic status of prospective employees and their dependents before making job offers. Because of problems associated with access to health insurance for individuals with medical conditions or risk factors, several states have proposed or passed legislation or regulations directed at genetic conditions or medical conditions generally. Questions have arisen concerning whether people with genetic conditions deserve special protection. There is a recent trend to protect against genetic discrimination, which harms us on many levels: loss of employment or insurance coverage, and hindering medical research by preventing scientists from studying families in order to understand gene mutations. People may be reluctant to volunteer for these studies, fearing that the results can be used against them. People are also hesitant to use medical advances that can be beneficial for the same reasons: fear that results will be disseminated to insurance companies which can cancel policies based on genetic predispositions. The National Human Genome Research Institute (1997) makes the following observation: “Each of us probably has 5 to 50 genetic mutations that place us at risk for some disease. As genetic information accumulates, more and more of us will be classified as carriers of genetic mutations that predispose us to disease. Unless safeguards are established, we all run the risk of being victims of genetic discrimination.” In July 1997 President Clinton announced his support for legislation to provide a comprehensive solution to the problem of genetic discrimination. He declared that “Genetic discrimination is more than wrong; it’s a life-threatening abuse of a potentially life-saving discovery.” (Id.).

It is apparent that the use of medical and genetic data in ways that may inhibit individual freedoms demands various responses, including judicial scrutiny for possible constitutional violations. Adoption of uniform standards to protect the confidentiality of medical and genetic information while also providing individuals access to that information when necessary would allay fears concerning unauthorized disclosure and misuse of sensitive data. In an effort to prohibit genetic testing as a condition of employment, twenty-five states have enacted laws prohibiting insurance companies from requiring genetic testing or disclosing genetic information to a third party without prior written consent. Eighteen states have enacted laws providing that no employer may require genetic testing or may use the results of genetic testing or genetic information to discriminate in employment. Similar legislation is pending in other states. The Health Insurance Portability and Accountability Act of 1996 guarantees that insurers will cover all employees regardless of pre-existing conditions, health status, or genetic background. This does not, however, prevent insurers from charging higher premiums to groups that include individuals with genetic illnesses. The exponential growth of medical information in possession of employers and concern that disclosure of sensitive medical information could result in loss of employment and insurance relate to the growing importance attached to privacy and confidentiality. It can be argued that knowledge of the genetic predispositions of oneself or a family member can result in loss of liberty [3] if it is shown that someone remained in a undesirable or unsuitable job so that insurance would not be canceled or because an individual feared an inability to secure another more suitable position.

Rothstein (1998) notes, “Although the purpose of establishing a duty to warn relatives about genetic risks is to promote public health, it is also arguable that the absence of a duty to warn promotes public health. Preserving the confidentiality of genetic information may be seen as encouraging individuals to avail themselves of genetic services without fear that their genetic secrets will be disclosed.” The central case concerning a practitioner’s duty to disclose medical information to third parties is Tarasoff v. Regents of the University of California (1976). In that case, the California Supreme Court held that a psychologist could be liable for not warning a murder victim that one of the psychologist’s patients expressed an intent to kill her. The Court weighed the confidentiality interests against the public interest in safety from violent assault, and concluded that “the public policy favoring protection of the confidential character of patient-psychotherapist communications must yield to the extent to which disclosure is essential to avert dangers to other.” Pelias (1991) notes an additional requirement imposed on the medical geneticist: a duty to recall former patients to inform them about newly discovered risks of treatment as well as current and future information about conditions that are or could be inherited. A duty to recall is an additional burden placed on the geneticist.

Several civil liability cases have dealt with the specific issue of whether health care providers have a duty to disclose genetic information to relatives of their patients, breaching their patient’s confidentiality in so doing. In Olson v. Children’s Home Society of California (1988), the appellate court found no duty to disclose a genetic condition to relatives. The case involved a woman who had agreed to have her infant son adopted. Thirteen years later she, then married, gave birth to another child who later died of a genetic disease. When she contacted the adoption agency to inquire about the health of the son she had put up for adoption, she was informed that the child was still alive, but also had the genetic condition. She and her husband sued the agency for wrongful death of their son, intentional infliction of emotional distress, and fraud, claiming that the agency had a duty to warn them that her child had a genetic disease. The trial court dismissed the complaint and the appellate court affirmed, holding that there was no special relationship between her and the agency that created a duty to notify her of the risk of having another child.

In an often-cited Florida case, Pate v. Threlkel (1995), the Supreme Court of Florida held that while physicians owe a duty to warn of foreseeable genetic risks to family members, that duty is satisfied if the patient, rather than the doctor, warns her family. The case involved the mother of a patient with an inherited tumor, who alleged that the physician was under a duty to warn the mother of the importance of testing her children for the condition because of its genetic nature. She posited that had the physician so warned her, the daughter would have been tested and preventive action taken before the daughter developed cancer. She further contended that the physician’s negligence had caused the daughter’s advanced cancer, pain and suffering, shortening her life. The court added, “Requiring the physician to seek out and warn various members of the patient’s family would often be difficult or impractical and would place too heavy a burden upon the physician.”

In Schroeder v. Perkel and Venin (1981), a New Jersey couple who had two children born with cystic fibrosis sued the pediatricians who had treated the older children and negligently failed to diagnose the condition in sufficient time to prevent the second pregnancy or to abort it. The New Jersey Supreme Court held that the physicians had a duty to the child as well as an independent duty to the parents to disclose that the child suffered from cystic fibrosis. Failure to diagnose the disease and advise the parents was a breach of the physicians’ duty to the parents. Each physician could be held liable for the medical costs of a second child born with cystic fibrosis. The physicians’ defense was that they owed no duty to the parents because the parents were not their patients. The Court decided the case on foreseeability grounds, holding that “The foreseeability of injury to members of a family other than one immediately injured by the wrongdoing of another must be viewed in light of the legal relationships among family members. A family is woven of the fibers of life; if one strand is damaged, the whole structure may suffer. The filaments of family life, although individually spun, create a web of interconnected legal interests.... A physician’s duty thus may be extended beyond the interests of a patient to members of the immediate family of the patient who may be adversely affected by a breach of that duty.”

In another New Jersey case, Safer v. Estate of Pack (1996), the New Jersey Supreme Court extended the duty owed beyond the patient to the family members who may be adversely affected. There, a physician had treated a man for colon cancer. Twenty-six years after the man died, his daughter learned she also had colon cancer and multiple metastatic polyposis. She sued the physician’s estate (he had since died), claiming that her father’s physician had breached a duty to warn of the hereditary risk, thereby depriving her of the chance for monitoring, early detection, and early treatment. The trial court dismissed the case because there was no physician-patient relationship between the doctor and the daughter. On appeal, the appellate court ruled that there is a duty to warn reasonably foreseeable third parties at risk, and that “reasonable steps be taken to assure that the information reaches those likely to be affected or is made available for their benefit” even if those steps require a breach of confidentiality. Because the plaintiff was a minor , the physician would have satisfied his duty to warn by telling his patient of the possible genetic nature of his disease and that it could affect his children. The New Jersey Court declined to follow the Florida Supreme Court in Pate .

A duty on the part of physicians to recognize potential familial risks and the requirement that they tell patients of the possible genetic causes and ramifications for other family members seems reasonable; requiring more than that becomes burdensome and problematic. Warning siblings or cousins about genetic risks may prevent them from conceiving a child with the gene, but that is not the type of serious, imminent harm about which the cases have required disclosure (Andrews, 1997).

Genetic information has many positive uses in the legal arena. In the area of criminal law, a genetic defect may be raised at trial to prove lack of mental capacity to commit the crime; biological explanations, such as organic brain syndrome, have been considered admissible exculpatory evidence. At sentencing, genetic information can be a mitigating factor in the penalty phase to explain defendant’s behavior, resulting in a lesser sentence. At a parole hearing, the government might introduce defendant’s genetic predisposition to violence and other antisocial behavior which makes the individual a likely recidivist who should be denied parole.

In personal injury litigation, when courts and juries make an assessment of damages based on an individual’s life expectancy and work-life expectancy, genetic tests could become sources of medical information to predict the future course of someone’s life. In domestic relations, genetic information is relevant to predict future health, not merely to determine parentage, as in a child custody dispute where the issue is whether one parent’s predisposition to illness justifies granting custody to the other parent. It has also been asserted that the law should facilitate adopting parents to learn the adopted child’s “health and genetic history.” In forensic science, genetic DNA tests determine paternity or heirship. Genetic information is also useful in schools for public health purposes; in commercial enterprises such as mortgage companies, banks, or other lending institutions to predict an individual’s health; in government recommendations to predict future mental health for security clearances or safety-sensitive jobs (Rothstein, 1997). While genetic information has many notable attributes, it is apparent that uncertainties and compromises abound concerning confidentiality.

The confidentiality of genetic information is likely to be affected by two trends in health care: managed care and computerization. In the area of managed care, increased utilization review means that more people, including administrators, will be reviewing medical records and patient information to decide whether to preapprove medical care and to review the quality of medical services rendered. As Reilly (1997) points out, it is likely that genetic data “will be part of virtually all medical records and will be essential to formulating a strategy to maintain health. As part of the general medical record, genetic information will be accessible to a disturbingly large number of viewers, including, of course, third-party payers and financial staff at health maintenance organizations.” It is apparent that the threat of abuse of data comes not just from unauthorized users but from those authorized to access files. Often confidentiality is breached by billing procedures from remote locations and casual or careless conversation in hospital elevators!

The problem becomes how to secure laws that protect the privacy of an individual medical records and dissuade providers from using information to exclude selected individuals. Due to the gravity of the problem, the Department of Health and Human Services has issued guidelines attempting to balance privacy concerns with the need to further the public interest as Congress sets out to write the first federal guidelines for health privacy, presumably including genetic privacy. The crucial date is August 21, 1999. If Congress does not have a federal law in place by that date, the administration can write its own regulations.

The interface of law, medicine, and ethics in this area is likely to become stronger and more accelerated because of the entry into genetic research by competitive private companies with new technologies. It is obvious that the geneticist must obtain the informed consent of the patient before he or she undergoes testing. Respect for patient autonomy and the need for full disclosure in treating genetic disease has also acquired new facets as medical and surgical therapies have become more refined and perfected. At the same time the geneticist must respect the sensitivities, sensibilities, needs, and expectations of everyone involved. Until legislation is in place outlining specific requirements concerning disclosure or non-disclosure, decisions must be determined on an ad hoc basis (ASHG statement, 1998).

[2] The doctrine of confidentiality in medicine was promulgated to encourage free and open communication between patient and physician, aid in diagnosis and treatment, and reassure the patient that the information disclosed to the physician within the confines of physician-patient relationship would remain secret. The Hippocratic Oath first enunciated the duty of confidentiality; it reemerged in the American Medical Association’s Principles of Medical Ethics. Thus the need to maintain confidentiality is recognized as an ethical obligation inherent in the physician-patient relationship. In legal terms it may be considered one aspect of the patient’s right of privacy (Weiss, 1998).