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Custodianship of Genetic Information: Clinical Challenges and Professional Responsibility

From the Harold C. Simmons Comprehensive Cancer Center and the Departments of Surgery, Internal Medicine, and Pediatrics, The University of Texas Southwestern Medical Center, Dallas, TX

Address reprint requests to Gail Tomlinson, MD, PhD, Department of Pediatrics, Hamon Center for Therapeutic Oncology Research, The University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390-8593; e-mail: gail.tomlinson{at}utsouthwestern.edu

HERE'S THE CASE

A 34-year-old patient was diagnosed with breast cancer during her second trimester of pregnancy. Her mother had died of ovarian cancer, diagnosed at age 49 years, after surviving breast cancer diagnosed at age 31 years. The patient was originally seen by genetic specialists during treatment, but opted to defer testing for possible mutation of BRCA1 or BRCA2 until a later date. Hospitalized 1 year later with rapidly progressing metastases, the patient then requested genetic testing for the future benefit of her two children, then 8 months and 5 years old. Testing revealed a deleterious mutation in the BRCA1 gene, which greatly increases the risk of developing breast and ovarian cancer in women, and is inherited in an autosomal dominant fashion.¹ The patient died before receiving results.

This case raises important questions about disclosure to family members, custodianship of genetic information, and current medical records policies that do not require long-term retention of genetics records. Such information may be critically important to the deceased's children and other relatives, who may return seeking information years, or even decades, later. Unfortunately, in this case, the patient died unaware of her genetic status, and without designating family members other than her husband to be contacted in the event of her death. Multiple efforts to contact the husband have been unsuccessful, leaving family members unaware that a mutation has been detected.

These important questions concerning custodianship of genetic information and disclosure of genetic testing results need to be addressed more comprehensively and answered more definitively. How long should genetics records be kept and who should have access? Do clinicians have any obligation to inform other family members of genetic testing results if the patient dies before disclosure? Would they be considered negligent in not disclosing this information to those who may be at significant risk? Or would they violate the duty of confidentiality by disclosing it? Although a number of these questions have been answered within the context of traditional medicine, many questions re-emerge in light of the familial nature of genetic information and the unique goals of genetic medicine. Within the last decade, some questions have already been posed in the form of legal challenges, as patients have attempted to establish physician liability for disease that might have been prevented through disclosure. This article explores these issues and considers what combination of protection and disclosure policies would allow cancer genetics professionals to maximize the benefits of genetic information, while minimizing the associated costs. In the process, it will contemplate the changing nature of medicine in the age of genetics, and consider the need for alteration of policies and procedures in light of the new paradigm.

The Changing Face of Medicine

The incorporation of genetic analysis into medical diagnosis and treatment has brought significant change to the practice of medicine. Evidence of these changes can be seen both in our approach to clinical application and in our thoughts about the ultimate goals of medical intervention. In the past, traditional medicine concerned itself primarily with diagnosis and treatment of current medical problems. The word "patient" referred to a single individual; the temporal scope of a given medical intervention began at the first sign of symptoms and ended with cure, remission, or death. Physicians rarely looked seriously beyond the patient's lifetime in taking a medical history, and professional responsibilities were restricted almost exclusively to meeting the needs of one person over a discrete period of time. Medical record keeping reflected the goals of these interventions and required retention of records for relatively short intervals.

Today, the medical landscape has changed in a number of ways. The advent of genetic testing for hereditary disease has inspired a marked shift from cure to prevention and early detection. Because genetic information has implications for families as well as individuals and because prevention is a realizable goal, our sense of professional responsibility has now expanded beyond the individual to include other family members as well. In addition, the period of time with which genetics professionals concern themselves has expanded to include both past and future generations. Genetic medicine is inherently longitudinal in nature, drawing on multigenerational family histories to predict the likelihood of disease. These and other trends can be seen in the modern-day management of hereditary cancer.

Most known hereditary cancer syndromes are caused by mutations in a single gene and many are characterized by adult onset of disease. An example is the BRCA1 and BRCA2 cancer predisposition syndrome, which greatly increases the risk of breast, ovarian, and other cancers in adult women.^1-3 In families with this predisposition, recognition of autosomal dominant transmission often leads to identification of high-risk individuals before cancer occurs. Prevention becomes both a possibility and a clinical objective, shifting the focus toward screening and treatment strategies that reduce the likelihood of cancer development. Because genetic information has life-long implications for both families and individuals, physicians and counselors often view professional responsibility in terms of collective obligation to family members at risk. Using genetic information as a tool, they seek to prevent not just a single illness or episode, but cancer occurrence over many generations.

Not surprisingly, these changes engender complex ethical and legal dilemmas regarding the limits of professional responsibility and legal liability, and the competing claims of individuals and families. Adding to the complexity of these challenges, genetics professionals often find that protocols formulated to fit the old paradigm do not speak to their concerns. The assimilation of genetics into medicine is occurring so rapidly that clinical practice outpaces needed policy change. This dynamic plays out in the clinic as geneticists grapple with a host of issues not previously encountered in traditional medicine.

The Case Revisited

The case outlined in this article illustrates a number of problems and highlights the difficulties encountered when old paradigms are applied to new technologies. The patient died without providing a written mandate to contact relatives or any means of doing so. Furthermore, even if contact information were available, strict adherence to the Health Insurance Portability and Accountability Act of 1996 (HIPAA) requires that we contact only the husband in this case.⁴ The HIPAA-mandated Privacy Rule, which took effect on April 14, 2003, provides patients with access to their medical records, while assuring them that medical records will not be released to outside entities without their explicit consent.^4,5 Yet some would argue that family members have a legitimate claim in this case. Given the fact that medical information from multiple family members is collected and used to diagnose a hereditary cancer syndrome and the fact that there is implied risk to first-degree relatives, particularly female relatives, it seems unjust to limit disclosure to the husband. In light of these considerations, should family members have access to genetic information, especially in cases where the next of kin is unavailable and/or nonresponsive? Furthermore, when a mutation is detected and the patient dies before disclosure of results, do genetics professionals have a duty to warn—or at least a privilege to inform—relatives at substantial risk? Should the HIPAA Privacy Rule, which is based on the medical model of the individual patient, be revised to accommodate changing views about familial ownership of genetic information? Lastly, because current medical records policies mandate retention of records for a relatively short period of time, one can foresee numerous ways in which this information might be destroyed before family members come in search of answers. Should medical records policies regarding length of retention be changed to reflect the long-term goals of genetic medicine?

Medical Records Policy

Much has been written about the nature of genetic information and the ways in which it is similar or dissimilar to other medical information. Many have argued that, like notes from psychiatric treatment, genetic information is particularly sensitive and should be accorded special status and increased protection.^6-8 In both cases, these claims are made in view of potential harms. Psychiatric notes have been restricted in the past, based on a belief that "authorizing psychiatric patients to review their records would be injurious to their health."⁹ Likewise, genetic information may be harmful by impairing patients' insurability and employability.8-10 However, in the case of genetic information, it is not primarily the information itself that may be injurious to the patient, but the downstream effects of releasing genetic information to those who would use it to discriminate.

In the past, concerns have been raised regarding the risk of genetic discrimination if such information is maintained in the medical record. However, a study published in 2000¹¹ found that fear of such discrimination outruns the actual experience of it in the cancer genetics clinic. Cases of discrimination against individuals with genetic disorders do exist, though attempts to document this in hereditary cancer families have been largely unsuccessful.^10,11 In contrast, what we have seen in our clinic are the negative effects of heightened concern, such as patients who pay out-of-pocket for expensive surveillance procedures, or patients who avoid the clinic altogether for fear of losing their insurance.

Our greater concern in dealing with medical records is that current policies governing them do not maximize their potential benefit. Information concerning inherited predisposition may be extremely valuable in preventing hereditary disease, yet only if families are aware of their genetic status. But often this takes time, and circumstances may interfere with the process. Diagnosis of BRCA-related cancer frequently occurs during a patient's thirties and forties, a period when the demands of family and career may be particularly intense. This further complicates what is already an extremely difficult process of coming to terms with a cancer diagnosis, while undergoing treatment. In cases where patients die from hereditary cancer, families are often doubly burdened by grief and the painful reality of caring for young children who are left behind. For a number of reasons, it may be months or years before families are prepared to ask questions surrounding a loved one's death. Yet, if medical facilities follow current rules concerning retention,¹² those records may no longer be available when family members come in search of answers. Given these considerations and the long-range goals of genetic medicine, it is our responsibility as genetics professionals to insure long-term retention of genetic information. Specifically, genetics records should be kept for a time span covering at least a generation, if not indefinitely.

Access to Genetic Records

In contrast to retention policies, the issue of access to genetics records for relatives and other interested parties presents intricate problems and challenges. Any attempt to create a permanent solution will require that we address both the issues of clearly defining the "patient" and determining who "owns" genetic information. Clearly, that is no easy task. Arguments in the literature range from declaring genetic information "uniquely personal"⁶ to proposing that it is "shared familial property."¹³ What is clear at this point is that current law mandates maintaining the confidentiality of the individual and allows disclosure only to the next of kin in the event of the patient's death unless otherwise directed by the patient. Until these rules are changed, the informed consent process that precedes genetic testing will be the key to proper dissemination and disclosure of genetic information to other family members at risk. By allowing the patient to designate recipients of genetic information beforehand, it also represents the only means of expanding the number of individuals who may benefit from information made available after a patient dies without increasing legal liability concerning breach of confidentiality.

Although in many cases health care providers have more than one opportunity to obtain permission to disclose, this case illustrates the importance of including such permission in the informed consent process that precedes testing. Specifically, we recommend obtaining a written directive from every patient designating who is to be privy to this information in the event that the patient is unavailable for disclosure. This would provide clinicians with legal grounds for disclosure to family members while falling short of suggesting a general duty to warn. Although it seems reasonable in this case to expect clinicians to contact individuals specifically designated during informed consent, any general policy expanding professional responsibility to include warning family members will drastically increase the burden on a field struggling to meet the challenges of rapid change and increasing demand. Position statements from genetics professional societies over the last decade reflect this tension between attempting to maximize the benefits of genetic medicine while creating realistic policy for those who practice it.^10,14,15

Duty to Warn Versus Privilege to Inform

The thorniest problem in the panoply of issues raised by this case is that of the duty to warn. In 1998, a position paper published by the American Society of Human Genetics established the terms for considering this issue.¹⁴ This article reflected the growing controversy over disclosure of genetic testing results to family members and considered what constitutes ethical practice in light of the familial nature of genetic information. It confirmed a general commitment to the principle of confidentiality, while arguing for a "discretionary right" to disclose genetic information even over the objection of the patient in certain circumstances. It pointedly declared such a policy to be permissive rather than obligatory, but noted an emerging trend toward disclosure. Interestingly, on the heels of affirming a traditional notion of confidentiality between patient and provider, the paper then followed with a discussion of legal cases in which physicians were sued by the patients' relatives for breach of duty to warn. The most important of these is the well-known Safer v Estate of Pack case,¹⁶ in which a woman sued her father's doctor for failing to warn her of hereditary colon cancer risk. The paper goes on to discuss various ethical positions concerning disclosure and makes the point that "absence of explicit legal regulations does not translate into an absence of duty." Thus, it hints at the broader subtext of the paper, which concerns establishing professional limits of responsibility and legal liability, not only in cases where patients refuse to disclose, but in all cases where disclosure of genetic information to family members might lead to prevention or early detection of disease. It also seems to suggest an implied warning: that unless we are proactive in creating reasonable policy, legal challenges will guide the process.

In the 6 years since publication of the American Society of Human Genetics statement, both the National Society of Genetic Counselors and the American Society of Clinical Oncology (ASCO) have published formal statements arguing against an ethical duty to warn.^10,15 Shifting the onus to the person undergoing testing, the ASCO statement argues, "the cancer care provider's obligations (if any) to at-risk relatives are best fulfilled by communication of familial risk to the person undergoing testing." Furthermore, the ASCO statement argues that currently, "federal requirements to justify a breach of confidentiality are not met by genetic syndromes of cancer predisposition." However, the controversy is far from over. A recent survey of genetics professionals' views concerning duty to warn found that "69% of medical geneticists surveyed believe they do bear responsibility to warn their patients' relatives when found to be at risk for genetic disease."¹⁷ Of those who had encountered patient refusal to inform relatives, however, only 25% reported seriously considering disclosure without patient consent, and only 3% actually went on to disclose. This striking difference in perceived responsibility to family members and an actual willingness to contact them illustrates the conflict between a desire to tap the maximum potential of genetic information and an even more powerful reverence for the principle of patient confidentiality.

CONCLUSION

Custodianship of genetic information presents both a challenge and an opportunity. Our success in this enterprise will determine our ability to realize the promise of genetic testing for hereditary cancer while minimizing related costs. But as the case outlined in this article shows, developing policy for storage of and access to genetic information presents difficulties on both an ethical and logistic level. Resolving these issues will undoubtedly require concerted efforts on the part of clinicians, ethicists, legal experts, and a wide range of other professionals. This article is intended primarily to raise awareness of the issues, but we offer the following preliminary suggestions for addressing these dilemmas.

In general, we would argue against violation of patient confidentiality and a duty to warn that goes beyond informing the patient of familial risk and encouraging the patient to share genetic testing results. However, this case presents a specific set of circumstances that call for re-evaluation of current policy. The fact that similar cases are likely to be encountered frequently in cancer genetics practices suggests that clinicians have a responsibility to address these issues and to develop appropriate guidelines. The most logical place to begin these discussions is in the professional societies responsible for setting clinical policy, such as ASCO and the American Society of Human Genetics. Until key issues concerning disclosure of genetic information are resolved, the informed consent process that precedes testing presents the best opportunity to achieve the dual goals of providing optimal care for hereditary cancer families, while avoiding unreasonable expansion of legal liability. Specifically, we recommend encouraging every patient to document his or her disclosure preferences as part of informed consent.

Finally, with regard to retention of genetics records, we advocate re-evaluating current policies that mandate retention for relatively short periods. In light of the particular circumstance of hereditary cancer families and the unique aims of genetic medicine, we would argue for establishing medical records policies that ensure long-term access to genetic information for those who may greatly benefit from its use.

Authors' Disclosures of Potential Conflicts of Interest

The authors indicated no potential conflicts of interest.

Acknowledgment

We thank Jessica Rice, JD, and Diane Sheppard, RN, for helpful discussions regarding privacy policies.

NOTES

Authors' disclosures of potential conflicts of interest are found at the end of this article.

REFERENCES

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4. U.S. Code of Federal Regulations: HIPAA Privacy Rule. 67 Federal Register 53267 (2003) (codified at 45 CFR 164.502)

5. U.S. Code of Federal Regulations: HIPAA Privacy Rule. 67 Federal Register 53266 (2003) (codified at 45 CFR 160.103)

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10. American Society of Clinical Oncology Working Group of Genetic Testing for Cancer Susceptibility: American Society of Clinical Oncology policy statement update: Genetic testing for cancer susceptibility. J Clin Oncol 21: 2397-2406, 2003[Abstract/Free Full Text]

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12. Murer C, Murer M, Brick LL: Time requirements for record-keeping in, The Complete Legal Guide to Healthcare Records Management. New York, NY, McGraw-Hill Education Group, 2000, pp 235-267

13. Wertz DC, Fletcher JC, Berg K: Guidelines on ethical issues in medical genetics and the provision of genetic services. Geneva, Switzerland, World Health Organization, 1995

14. American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure: ASHG statement: Professional disclosure of familial genetic information. Am J Hum Genet 62: 474-483, 1998[CrossRef][Medline]

15. National Society of Genetic Counselors: National Society of Genetic Counselors position statement on confidentiality of test results (adopted 1991, revised 2002). http://www.nsgc.org/about/position.asp confidenoftest

16. Safer v Estate of Pack, 667 A2d 1188 (NJ App), appeal denied, 683 A2d 1163 (NJ 1996)

17. Falk MJ, Dugan RB, O'Riordan MA, et al: Medical geneticists' duty to warn at-risk relatives for genetic disease. Am J Med Genet A 120: 374-380, 2003[CrossRef][Medline]

Submitted July 21, 2004; accepted December 22, 2004.

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