Much has been written in recent years about the issues of disclosing and communicating health information (including genetic information) in biomedical research and medical practice. Various guidelines and policy statements have been adopted internationally, but these are contradictory and the criteria they set out sometimes vague. Given the complexity of the ethical landscape surrounding this topic, particularly in regard to genetic risk and predictability of disease, guidance is undeniably needed on this issue.
In fact, the proliferation of tests to identify individuals with an increased risk of genetic disease has led to a re-evaluation of the duties of researchers, physicians, and other healthcare professionals. Considering the speed at which genetic technologies are moving from bench to bedside, the questions of (1) whether researchers should communicate research results, (2) whether physicians should recontact patients concerning new information that might be useful to them, and (3) whether physicians should inform family members of relevant genetic information are becoming increasingly important. These questions correspond to the current changes taking place in the spheres of knowledge, social and cultural values and norms, and individual life experience.
Currently, changes in professional attitudes are reflected in the increased level of communication and involvement in relationships with patients and research participants. Fully informed communication and the presentation of choices and alternatives are now heralded as indispensable to ethical care. Patients are seen as full partners in the process of informed and involved decision-making. Debate surrounding the principles of confidentiality and beneficence has led to a re-examination of the Hippocratic oath and the sacrosanct principle of confidentiality. Yet there are still few therapies in the field of medical genetics. Once treatment does become available, however, a whole range of new questions arises, in the areas of access to care, the choice and costs of treatment, and the facilities available. The question is: ought we to disclose? In previous practice the wishes of the patient were paramount, but with the rapidity of genetic discoveries, research results might change over time, or the shifting of the significance of genetic diagnosis might prompt the recontact of a patient, or, finally, relatives may wish to receive information for their own benefit. This could mean telling the patient or even a third party against the express wishes of the patient.
These issues point to the need to respond to new developments in relation to existing ethical issues. An ethical framework for the practice of genetics may thus introduce new professional responsibilities in the existing duty of care, which includes the duty to inform, to provide appropriate care, to follow-up, to refer, and to refrain from abandoning a patient (Hunter et al. 2001, 270). To this, should we add the duty to communicate results in the research setting, the duty to recontact patients, and the duty to warn relatives?
Major Dimensions And Changes Over Time
The Communication Of Results In Research Settings
To clarify the discussion on the communication of results in research settings, there is a need to distinguish between the established ethical obligation to communicate general basic research results and the eventual return of specific findings that may be relevant to individuals. By their very nature, most research results are usually in the aggregate form and not at all “individual.” As stated by the World Health Organization (2003), in most cases genetic research data will remain of abstract significance.
Nevertheless, a suggested avenue is to communicate results in basic research if and when they have been scientifically and clinically validated and when they have implications for the health of the participant. The Consortium on Pharmacogenetics (2002, 6) considers that researchers should “offer the research subject the option of disclosure of research information when its reliability has been established and when the disclosure is of potential benefit to the subject.”
Turning to results in clinical trials, international guidelines for good clinical practice stipulate that investigators as well as institutions involved in trials “should ensure that adequate medical care is provided to a subject for any adverse events, including clinically significant laboratory values, related to the trial” (ICH 2001, 4.3.2). The communication of research results in clinical trials may occur when test results are relevant to the patient’s health: the patient has the right to receive information and to be fully informed about her or his health status, including the medical facts about her or his condition (World Health Organization 1997; World Medical Association 1995).
Ethical considerations require health professionals to evaluate the specificity of research results, differentiating between the obligations of a researcher, who usually only has general results, and those of the physician vis-à-vis their patients involved in clinical trials. Failure to provide information about study results may be one of the many factors that adversely affect accrual. Providing results to study participants or patients might maximize the good, i.e., respect for the person, quality of life, although no empirical data support this premise. The communication of research results might lead to better patient– physician communication, which would in turn lead to greater satisfaction with medical care.
The Duty To Recontact In Clinical Settings
In addition to the communication of research results, do physicians have a duty to recontact patients when confronted with new genetic information, more precise tests, or new therapies? A physician may consider that recontact is needed following the discovery of preventive measures or treatment for a specific condition, or when the patient requires immediate and continuing treatment or management. The degree of incertitude surrounding genetic risk notification warrants guidelines for determining the circumstances in which recontact efforts should be undertaken. It is important to remember that novel ethical questions come into play, as it is doubtful that consent to be recontacted could be autonomous since patients do not know in advance what kind of information might be disclosed. While recontact may be attempted if treatment or prevention is available, professionals should consider the emotional impact of communicating new sensitive information. They must, above all, ensure that the patient’s privacy and familial interactions are protected (Fitzpatrick et al. 1999; Hunter et al. 2001). The Canadian College of Medical Geneticists stresses that the disclosure process in testing “should avoid needlessly informing individuals who do not wish to learn their genotype or informing one family member of another family member’s genotype” (Hall et al., 1991).
Most professional bodies, however, have no policies requiring physicians to disclose new relevant information, except in the case of adverse events or medical incidents. This may be changing: ethical guidelines are directed at empowering patients to assume ownership of their ongoing care and to use new findings and therapies to improve their quality of life. According to the American College of Medical Geneticists (1999):
-It is the medical geneticist’s responsibility to provide clinical updates to those patients to whom they provide an on-going service. However, since this represents the smaller percentage of the caseload, it should be incumbent upon the primary care physician to alert his/her patient to the need for a recontact as necessary. The patient should also be included in the process by being adequately counseled to contact the primary care physician or genetics unit as relevant changes in their lives occur.
The duty to recontact may be crucial because failing to disclose relevant updated information undermines public trust in medicine. Failure to recontact not only involves deception, but hints at a preservation of professional interests over the well-being of patients. It may cause harm if patients are injured further by the failure to disclose; moreover, it may also undermine efforts to improve the involvement of patients in their care. And because it impinges on a patient’s right to know, failure to disclose relevant genetic information could be deemed a breach of professional ethics.
While there are benefits to recontacting and to communicating new clinical data, there remain considerable disadvantages. Patients might not want to be recontacted or receive new information. Clinicians need to anticipate negative reactions and be prepared to provide the necessary support. Disclosure necessitates the use of substantial resources: participants may want more or less information and it could become quite time consuming. How should professionals recontact for new tests or treatments? The processes for both the communication of research results and for recontact should be built into the informed consent process and, if acceptable, re-offered to the individual at the recontact. And by engaging the individual in a comprehensive discussion of what disclosure entails (and always estimating the perceived benefits conservatively), physicians must insure a balance between harms and benefits. Provisions for anticipatory follow-up have to be made explicit. Patient advocacy groups, who lobby for the protection of patient rights, may prove very helpful in this process.
The Duty To Warn Family Members
The personal and familial nature of genetic information further complicates confidentiality and privacy issues. It may be important for an individual to be informed of a family member’s genetic test results and thus of their own risk when it comes to potentially preventable or treatable conditions. Hence, the duty to warn family members could arise when the warning is necessary to avert serious harm for treatable or preventable conditions. A Code of Ethics prepared by the Canadian Medical Association (2004) maintains:
Disclose your patients’ personal health information to third parties only with their consent, or as provided for by law, such as when the maintenance of confidentiality would result in a significant risk of substantial harm to others, or in the case of incompetent patients, to the patients themselves. In such cases take all reasonable steps to inform the patient that the usual requirements for confidentiality will be breached.
Thus, health professionals must determine whether the family member is at a high risk of serious harm; they must also decide if, in the event where a patient has repeatedly refused to disclose the information, a breach of confidentiality is necessary to prevent or minimize this harm. How is a physician to resolve the competing ethical mandates of autonomy and beneficence and non-maleficence? This requires an evaluation and comparison of the actual risk of a genetic disease, the efficacy of potential preventive interventions, and emerging legal considerations and potential liabilities. The physician should strive for a balance between the right to confidentiality, the right to know, and the right not to know, including that of others who are not even his or her patients.
More detailed advice concerning the duty to warn relatives urges physicians to assist patients in their communication with relatives. Physicians, according to the American Medical Association Code of medical ethics, “should make themselves available to assist patients in communicating with relatives to discuss opportunities for counseling and testing, as appropriate” (2006). Advocacy groups, meanwhile, recommend asking the patient’s consent in advance of genetic testing for permission to disclose genetic information to relatives (Genetic Interest Group 1998).
Current Emphases In Work And Future Directions
In the joint-account model elaborated by Parker and Lucassen (2004), it is assumed that genetic information should be available to all account holders (health professionals, relatives) unless there are good reasons to do otherwise. The justification in favor of a joint account adheres to the ethical principles of justice and reciprocity; there are also benefits to be gained by sharing genetic information. Seeing as physicians in medical genetics work with families, the chosen approach appears to be consistent with the very nature of practice in genetics. However, more often, a case-by-case approach is chosen. This approach enables professionals to intervene when the disease is fatal if diagnosed late but treatable if diagnosed early. On the other hand, in cases in which the disease is untreatable, the duty to warn would be tenuous, except for reproductive decisions. Some diseases would fit in between, such as hereditary breast cancer, which is treatable by aggressive surgery.
Ultimately, emerging responsibilities in genetic risk notification require an overexpansion in the duty of care for professionals. Duties to communicate research results and to recontact with clinical findings affect the concept of an “ongoing duty of care” in order to include patients’ informational needs. The duty to warn creates a shift from “individual therapy” to one that is “family-and-future-generation oriented.” The importance of this issue seems unlikely to diminish in the future. As public awareness grows and new technologies develop, the pressure for greater clinical services and information is inevitable. Individuals at risk push for research that is more process oriented and patient oriented. Consequently, requirements of informed consent and confidentiality may be modified relatively to other forms of medical care. These issues, along with that of nonmaleficence, the duty to do no harm and yet also to prevent harm, are omnipresent. The current socio-cultural context and pressures of the “promise” of genetic information cannot be ignored.
A fair process in health-care ethics remains a priority. This approach is more likely to be successful and useful than agreement on a set of principles. A fair process would be one in which there was transparency about the grounds of the decisions to return results, recontact, or warn based on prior discussion. Appealing to rationales that all can accept as relevant to meet health needs fairly, it would allow procedures for revising decisions in the light of challenges to them.
- American College of Medical Genetics (1999). Policy statement: Duty to recontact. Genetics in Medicine 1(4), 171–172.
- American Medical Association (2006). E-2.131 disclosure of familial risk in genetic testing. In AMA code of medical ethics. At www.ama-assn.org/apps/pf_new/pf_online?category=CEJA&assn=AMA&f_n=mSearch&s_t=&st_p=&nth=1&, accessed August 17, 2007.
- Canadian Medical Association (2004). Code of ethics. At www.cma.ca/index.cfm/ci_id/2419/la_id/1.htm, accessed August 17, 2007.
- Consortium on Pharmacogenomics (2002). Pharmacogenetics: Ethical and regulatory issues in research and clinical practice. Minneapolis, MN: Consortium on Pharmacogenomics.
- Fitzpatrick J. L., Hahn, C., Costa, T., & Huggins, M. J. (1999). The duty to recontact: Attitudes of genetics service providers. American Journal of Human Genetics, 64(3), 852 – 860.
- Genetic Interest Group (1998). Guidelines for genetic services. At www.gig.org.uk/docs/gig_guidelines.pdf, accessed August 17, 2007.
- Hall, J., Hamerton, J., Hoar, D., et al. (1991). Policy statement concerning DNA banking and molecular genetic diagnosis: Canadian College of Medical Geneticists. Clinical Investigative Medicine, 14(4), 363 –365.
- Hunter, A. G., Sharpe, N., Mullen, M., & Meschino, W. S. (2001). Ethical, legal and practical concerns about recontacting patients to inform them of new information: The case in medical genetics. American Journal of Medical Genetics, 103, 265, 270.
- ICH (2001). Harmonised tripartite guideline: Guideline for good clinical practice. Geneva: ICH.
- Parker, M., & Lucassen, A. (2004). Ethics in practice: Genetic information: A joint account? British Medical Journal, 329, 165 –167.
- World Health Organization (1997). Proposed international guidelines on ethical issues in medical genetics and genetic services. Geneva: WHO.
- World Health Organization (2003). Genetic databases. Geneva: WHO.
- World Medical Association (1995). Declaration on the rights of the patient. At www.wma.net/e/policy/l4.htm, accessed August 17, 2007.