Legal issues in genomic medicine.

Society has entered uncharted territory regarding how, when and where genetic information can be used. This article discusses the major issues raised by increased access to genomic information, which will ultimately be resolved by legislation or the courts.

Public concern about genetics.

Throughout the twentieth century and continuing into the present, the general public has been fascinated by advances in genetic knowledge. At times, individuals and groups have either inadvertently or deliberately misused genetic knowledge in the service of political goals. At other times, advances in genetics have challenged deeply held societal or religious beliefs. During the 1990s, there were many advances that focused an unprecedented level of public attention and concern on genetics. In particular, the public has expressed deep concern about gene mapping, cloning, and genetically modified foods. In each case, the origin of the concern and the nature of the public response have been different. I consider these topics and argue that the scientific community must increase its commitment to public discourse.

Efforts to regulate the collection and use of genetic information.

Public fascination with and support for genetic medicine is complicated by a deeply held fear that genetic information will be used by third parties (eg, insurers, employers, school systems) in ways that will harm the individuals from whom it was derived. Since the mid-1990s there has been much state and some federal legislative activity to address 2 closely related issues: the maintenance of genetic privacy and the prevention of genetic discrimination. These laws have had to confront several challenging questions such as what constitutes a genetic test, is genetic information qualitatively different from other medical information, and is there a means to distinguish between the two. In general the state laws are not well crafted. I will argue that a far more preferable policy is to draft a global, comprehensive medical records privacy law and to develop a model statute that defines the role of predictive genetic information in insurance underwriting. Concerns over misuse of genetic information also pose major issues for the conduct of genomic research. Among those I discuss are ownership of the DNA sample, significant changes in the scope of consent that must precede the decision to volunteer as a subject in genomic research, the reuse of long-archived samples, the challenges to intellectual property rights that flow from research, and the rise of the doctrine of community consent.

We're off to see the genome.

We discuss some societal and legal ramifications of the human genetics revolution. Our reflections were stimulated by discussions among scientists, citizens and legal experts at a large public symposium. We outline key issues regarding oversight of genetic research on human subjects, banking of DNA data by governments and corporations, the potential impact of behavioural genetics and effects upon racial and racist thinking. We contend that, in some cases, well-intentioned but naive efforts to protect the rights of individuals and groups may hurt everyone by blocking the progress of useful research.

Laboratory policies and practices for the genetic testing of children: a survey of the Helix network.

In order to discover whether laboratories have policies regarding the testing of unaffected children, we surveyed all laboratories registered with Helix, a national net-work of DNA diagnostic laboratories. Of 186 laboratories asked to respond anonymously to a four-page questionnaire, 156 (84%) replied. A screening question removed 51 laboratories that provided no clinical services. Of the remaining 105, 92% said that their requisition forms asked the person's age. Substantial minorities had policies for the testing of minors for late-onset disorders (46%), for carrier status for recessive disorders (33%), or for disorders for which the test offers no medical benefit within 3 years (33%). Most laboratories are responsive to parental requests. For 12 of 13 late-onset disorders, the majority of laboratories that offered testing had had requests to test children. The majority had tested healthy children, <12 years of age, for eight disorders. Approximately 22% had tested children, <12 years of age, for Huntington disease. Majorities had received requests to test healthy children for carrier status for 10 of 15 recessive or X-linked disorders and had tested children, <12 years of age, for 6 of these disorders, including cystic fibrosis, hemophilia A, fragile X syndrome, and Duchenne muscular dystrophy. Approximately 45% of the laboratories occasionally had provided tests directly to consumers. In view of the possibility that the harms of presymptomatic diagnoses of children sometimes may outweigh the benefits, our results suggest a need for consistent laboratory policies designed for the best interests of the child and the family.

Ethical issues in genetic research: disclosure and informed consent.

As research to correlate genetic status with predisposition to disease has accelerated, so has the concern that participation in such studies creates the risk of genetic discrimination and emotional distress. There is a need to broaden disclosure during the consent process to ensure that potential subjects understand these risks and other issues and to address them in the consent form. We describe the broad approach that we have taken in regard to disclosure and consent in gene mapping studies.

Setting standards for DNA banks: toward a model code of conduct.

As genomic research proliferates, DNA banking will become more common. In research, samples will be banked largely in an effort to find and clone genes that predispose to disease. Commercially oriented banks, those that offer services to families, may also become more common. These entities will hold sensitive information. DNA banking is not yet regulated. We argue here that new laws are not needed at this time to regulate DNA banking. We suggest an approach that relies on a professional code of conduct and draws on principles of disclosure inherent to the process used in obtaining informed consent. In addition to suggesting 12 specific recommendations for the code of conduct, we suggest that items should be included in depositor's agreements. We offer a rationale for our suggestions.

A survey of DNA diagnostic laboratories regarding DNA banking.

This article reports the findings of a survey of 148 academically based and commercial DNA diagnostic labs regarding DNA banking (defined as the storage of individual DNA samples in some form with identifiers for later retrieval). The population surveyed consisted of all laboratories listed with HELIX, a national directory of DNA diagnostic labs that includes a fairly comprehensive listing of clinical service labs as well as a large number of research labs. The survey was concerned primarily with the legal and ethical issues that the long-term storage of DNA may raise. The survey inquired into the respondents' policies and procedures concerning (1) the extent of DNA banking and of interest in developing DNA banking in academia and industry and (2) the degree to which DNA banks had developed written internal policies and/or a written depositor's agreement (a signed document defining the rights and obligations of the person from whom the sample was taken and the bank) designed to anticipate or prevent some of the ethical and legal problems that can arise from the long-term retention of DNA. Our research suggests that (1) the activity of DNA banking is growing, particularly in the academic setting, and (2) most academically based DNA banks lack written internal policies, written depositor's agreements, or other relevant documentation regarding important aspects of this activity.

Genetic testing for children and adolescents. Who decides?

In the future there is likely to be a large array of DNA-based tests to diagnose single-gene disorders and to identify predispositions to genetically influenced disorders. This article focuses on ethical, legal, and psychological implications of testing healthy children and adolescents for such disorders. Testing may offer medical or psychological benefits but may harm parent-child bonds or the child's self-concept. Clinicians may encounter situations where they must weigh the child's or adolescent's wishes against wishes of parents. We examine the legal history and current status of minors as health care consumers; psychosocial research on their maturity to make choices; impact of testing on intrafamilial relationships; views of national commissions on appropriate ages of assent and full informed consent; ethical and legal requirements for competence in children and adolescents; and disclosure of genetic information. We propose guidelines for predictive genetic testing and counseling of children and discuss risks and benefits of testing.

Stored Guthrie cards as DNA "banks".

Recently there has been much discussion about the possibility of using dried blood spots on Guthrie cards as a source of DNA for research or testing purposes. The collections of Guthrie cards stored by state newborn-screening laboratories can thus be viewed as inchoate "DNA banks." This has generated concern among some persons who are interested in preserving the privacy of medical records. This study examines the policies of state newborn-screening laboratories in the United States, regarding their retention of Guthrie cards and the degree to which they permit the sharing of those cards with various third parties. We found that although most laboratories retain their cards, if at all, for only a short time, a growing number plan to keep them for an extended period--and, in several cases, indefinitely. We also found that although most laboratories would decline to release individually identifiable blood spots from the cards to third parties without a written release or other explicit authorization, a large number would at least consider sharing anonymous cards for research purposes.

A review of state legislation on DNA forensic data banking.

Recent advances in DNA identification technology are making their way into the criminal law. States across the country are enacting legislation to create repositories for the storage both of DNA samples collected from convicted offenders and of the DNA profiles derived from them. These data banks will be used to assist in the resolution of future crimes. This study surveys existing state statues, pending legislation, and administrative regulations that govern these DNA forensic data banks. We critically analyzed these laws with respect to their treatment of the collection, storage, analysis, retrieval, and use of DNA and DNA data. We found much variation among data-banking laws and conclude that, while DNA forensic data banking carries tremendous potential for law enforcement, many states, in their rush to create data banks, have paid little attention to issues of quality control, quality assurance, and privacy. In addition, the sweep of some laws is unnecessarily broad. Legislative modifications are needed in many states to better safeguard civil liberties and individual privacy.

A survey of medical directors of life insurance companies concerning use of genetic information.

Rapid advances in our ability to test persons presymptomatically for genetic diseases have generated increasing concern that genetic information will be abused by insurance companies. Reasoning that the insurance companies may have the strongest interest in using genetic data and that the medical directors of those companies with responsibility for rating applicants would be a good source of information on the use of such data, we conducted a large survey of medical directors of North American life insurance companies. We received responses from 27 medical directors. Our results suggest that (1) few insurers perform genetic tests on applicants, but most are interested in accessing genetic test information about applicants that already exists; (2) the degree of insurers' interest in using genetic test results may depend on the face amount of the policy applied for and on the specificity and sensitivity of the test; (3) many companies employ underwriting guidelines with respect to certain genetic conditions but may not always have specific actuarial data in house to support their rating decisions; (4) a considerable degree of subjectivity is involved in most insurers' rating decisions; and (5) some of the medical directors who responded to our survey are not fully informed about certain basic principles of medical genetics.

A survey of state insurance commissioners concerning genetic testing and life insurance.

Rapid advances in genetic testing have stimulated growing concern about the potential for misuse of genetic data by insurance companies, employers, and other third parties. Thus far, reports of genetically based discrimination in life insurance have been anecdotal. Reasoning that state insurance commissioners were likely to be aware of (1) the extent of current use of and interest in genetic tests by life insurers and (2) consumer complaints about insurance being denied because of genetic condition or because of genetic test results, we conducted a survey of that group. We received responses from 42 of the 51 jurisdictions. Our results suggest (1) that those who regulate the life insurance industry do not yet perceive genetic testing to pose a significant problem in how insurers rate applicants, (2) that life insurers have much legal latitude to require genetic tests, and (3) that so far few consumers have formally complained to commissioners about the use of genetic data by life insurers.