I am David Korn, the immediate past Vice President and Dean of Stanford Medical School, where I have been a Professor of Pathology for 29 years. I am currently on sabbatical leave from Stanford and have an appointment as Distinguished Scholar in Residence at the Association of American Medical Colleges (AAMC), where I have been working with the Division of Biomedical Research on a host of biomedical science policy issues. I am pleased to be able to be here with you today, at this meeting of the Subcommittee on Privacy and Confidentiality of the National Committee on Vital and Health Statistics.
The AAMC is very much aware of the importance of the task with which the NCVHS has been charged under the administrative simplification subtitle of the Health Insurance and Portability Act of 1996 (PL 104-191). Although the Association does not now have an official policy or position on the issues before you, it recognizes the keen interest in these matters of its large and diverse membership of healthcare professionals and basic and clinical biomedical scientists. Accordingly, the Association is delighted to be able to send two representatives to participate in your deliberations, myself and my colleague, David Witter, who have been engaged in different aspects of these very complex and sensitive matters. I must emphasize, however, that the views that Mr. Witter and I will present are our personal opinions and not an official position of the AAMC.
The conjunction of remarkable advancements in electronic information technology and basic biomedical research, especially in molecular genetics and genomics, together with the dramatic transformation of the health care delivery system by managed care, augers profound changes in the way that society will deal with fundamental issues of health and disease in coming years. Most of us believe that these changes are on balance positive in their promise of enhancing understanding of human diseases, and our ability to diagnose, treat and prevent some of the major scourges of humankind, thereby mitigating heavy societal burdens of human suffering and resource costs. At the same time, however, these changes have generated a great deal of public unease that arises in part from deeply felt philosophical and ethical concerns about individual autonomy and privacy and in part, from pragmatic concerns about the security and confidentiality of sensitive and personally identifiable medical information.
Each of these changes offers a tantalizing combination of promise and threat. For example, information technology offers the promise of the comprehensive, portable electronic record that can easily be accessed on behalf of a given patient no matter where or when he or she might be in need of medical care. That very portability, however, makes it much easier to transmit such records, and the very personal information they contain, widely and in bulk within and among health care institutions and other organizations and agencies. Managed care offers the promise of rationalizing the utilization of medical resources and controlling medical costs; but it comes with a heavy burden of surveillance, audit and health service research functions that demand ready access to medical records by large numbers of clericals, administrators and investigators far removed from the physician-patient relationship and the primary providers of care. Such wholesale traffic in medical records results in a disquieting depersonalization of documents that are compendia of the most intensely personal and private information that is ever amassed about individuals.
And finally, the dramatic advancements in genetics, significantly stimulated by the Human Genome Project, have yielded a rapidly expanding body of knowledge about normal and abnormal genomic structures and the correlation of specific genetic abnormalities, some of them heritable, with diseases of major societal import. At the same time, these accomplishments have generated powerful concerns - indeed, alarm - about the acquisition, protection and use of such intensely personal and private information that may also be predictive. These concerns have recently come to heated focus on the nature of the informed consent process that should guide genetic testing and the use of human tissues in research. The issues raised in these three different areas of rapid change are challenging, and they share some common features: first, they are imbued with passion, which arises from deeply held beliefs about privacy and deeply seated fears of discrimination; and this makes dispassionate discussion of the issues difficult. Second, the issues are very complex, for they lie at the intersection of patient diagnosis and management, biomedical and health services research and public health., and they raise challenging bioethical questions that have no easy answers.
In recent years, these issues have received considerable attention in two different venues, one scientific and the other, legislative. The first has been comprised of a number of prominent committees and working groups sponsored by such eminent organizations as the Institute of Medicine, the Ethical, Legal and Social Implications (ELSI) Program of the National Center for Human Genome Research, and the several genetics societies. These groups have attempted to analyze the issues from scientific, legal and bioethical perspectives and have been particularly concerned with enhancing the security of confidential information. But the approaches they have chosen have largely been directed at the "front end," that is, at making it more difficult to collect or create such information by substantially strengthening informed consent protocols, and at tightening access to the information by proposing elaborate and detailed authorization procedures and detailed specifications regarding its use. Relatively little attention has been paid by these groups to the "back end," that is, to improving the security of confidential information once it has been collected and archived.
In the second venue, sundry bills have been introduced into the Congress and numerous State legislatures, and laws have been enacted recently in many states. Although a few of the bills introduced into Congress have been concerned broadly with the confidentiality of the medical record, most of the legislative efforts have focussed on genetic privacy, genetic testing and the discriminatory misuse of genetic information in employment and the health and life insurance markets (see, for example, the Health Insurance Portability and Accountability Act of 1996). Unfortunately, many of these initiatives, particularly within the States, appear to be hasty and inadequately considered responses to highly emotional public pressure. As a consequence, they tend to be inadvertently over-reaching, while at the same time containing numerous exceptions that benefit special interests at the cost of undermining the bills' intended purposes. I shall return to the matter of exceptions in a moment.
Consistent with my long career as an academic pathologist and molecular biologist, and the dean of a major research-intensive school of medicine, my personal involvement with these matters, which began over a year ago, has focussed on the use of human tissues in research, an issue that has proved very controversial and has been handed off to the National Bioethics Advisory Commission (NBAC) as a top priority item for resolution. But it has been clear from the outset that the issues that impassion the human tissue debate are similar to and inextricably linked with those characterizing deliberations about the confidentiality of the medical record. This becomes particularly apparent when attempts are made to deal legislatively with the security of genetic information in isolation from other comparably sensitive clinical information often found in a medical record. The attempts typically are characterized by strained semantics, imprecise and over-reaching definitions, and awkward exceptions (for example, see discussion of the definition of genetic information in the "Commentary" to the "Genetic Privacy Act" by Annas et. al.).
The issues that must be addressed by NBAC and NCVHS are very difficult. The central challenge to both bodies is to enhance the security of confidential medical information and reduce the probability of its misuse without substantially impairing its accessibility and communicability, which are essential to the effective delivery of medical care, the efficient functioning of the health care delivery system (including audit and accreditation functions), and the pace of biomedical and health services research. This is a tall order, indeed, and in my judgment, none of the legislative efforts to date has fully met the bill.
I appreciate the opportunity to participate in these deliberations, and wish to offer a few reflections that have formed from my involvement with the matter of genetic privacy and the use of human tissues in research.
1. First, it appears that concerns about privacy and the confidentiality of medical information flow largely from two different sources. One of these is a deeply rooted commitment to individual autonomy and concern that a wholesale trafficking in medical information, whether created clinically or in research, violates the fundamental rights of individuals and their families to privacy and a sense of personal equanimity about themselves and their life plans. The second, which may be even more widespread and immediate, is the quite legitimate fear of discrimination or stigmatization that could result from inappropriate (or unauthorized) access to and misuse of sensitive medical information developed clinically or in research, especially in employment and the insurance markets.
Since the pace of advancement in biomedical and information science and technology, as well as their applicability to medical practice and research, will only intensify, so must the degree of public unease. It would be comforting indeed if only it were possible to develop fool-proof mechanisms that could assure the absolute security of medical information of all kinds, at all sites, and of whatever derivation. But given the continuing needs to access and communicate information in the real worlds of medical care and biomedical research, such levels of security are fanciful. A more realistic approach would be to develop the best security mechanisms that are feasible from a cost/benefit perspective and couple that effort with more effective measures to prevent the misuse of medical information by employers, insurance companies, or others. Although the latter should be theoretically attainable, we as a society have not succeeded in doing so to date. I note in passing, as have many others, that a system of mandatory universal healthcare coverage would help considerably to alleviate at least one aspect of public concern about the misuse of medical information.
2. Second, in the absence of effective measures to prevent and punish the misuse of medical information, effort tends to become directed toward restricting its creation and accessibility. With respect to medical information developed clinically, the problem with this approach is that the tighter the protective mechanisms, the greater the probability that they will unduly interfere with appropriate medical access to patient charts, and with the audit and surveillance functions required by health plans, insurance companies, and oversight and accrediting agencies charged with assuring the clinical and financial integrity of the health care delivery system. To address this problem, exceptions are introduced to benefit specific purposes and selected private and public interests, a process that is particularly well illustrated in the revision of the "Medical Information Confidentiality Act" (Bennett) proposed by the Healthcare Leadership Council.
For example, the proposed revision recommends an explicit exception from the Bennett Bill's otherwise stringent provisions for authorization of access to "protected health information" for "financial services" related to health plan premiums or the provision of health care. It contains a provision allowing a "general authorization" (my language) for access to protected health information by health plans or self-insured employers for purposes of medical treatment, payments for health care, and for "undertaking such plan operations as are necessary to fulfill the contract for provision of coordinated health care" [which includes audit and oversight functions]; and it calls for specific exceptions for "communications [of protected health information] in the public interest," which the proponents argue should include, for example, communications to patient registries, and communications having to do with any activity conducted pursuant to an investigational new drug exemption (INDE) or investigational device (IDE) exemption, or other records required by the FDA. I use this example not to be critical of the details in the Healthcare Leadership Council's proposal, but rather to illustrate the mechanism commonly used to relax or evade the most restrictive provisions of such Bills for the benefit of specific functions that are deemed essential; and to make the point that the need to resort to such mechanisms underscores the fundamental contradictions that are inherent in this approach to protection of the medical record.
3. Problems that are comparable, but in my view, even more difficult, are encountered with medical information created in research. An excellent example of the kinds of conundrums that can arise in this area is presented by the current debates over the protection of "genetic information" and the use of human tissues in research.
Our nations' hospitals, and especially the academic medical centers, collectively contain an enormous archive of human tissue samples, which comprise a unique resource that reflects the prevalence and protean expressions of human disease over time. The tissue specimens were removed for medical reasons, under sparing general informed consent language that usually included a proviso for research and educational uses, and were submitted to the pathology laboratory for routine diagnostic evaluation. Although not collected specifically for research purposes, these specimens have served as a rich source of materials for clinico- pathological investigations that have provided most of the vocabulary and much of the foundation of modern medicine. Yet, the results of the studies have historically been primarily of public benefit and of little immediate consequence to individual patients (or "sources") from whom the tissues had been obtained. Accordingly, the practice and standard of review of informed consent for this vast body of research has been quite minimal.
What has now changed dramatically has been the introduction into practice of powerful new techniques like monoclonal antibodies and the polymerase chain reaction, which the pathologist-investigator can apply in the research laboratory to fixed, paraffin embedded and even sectioned tissue specimens not only to demonstrate specific abnormalities of gene structure and expression, but often to infer whether the changes are of somatic origin or present in the patient's germline DNA and therefore hereditable. The power of these approaches provides unique insights into the mechanisms of human diseases (for example, neoplasms) that cannot be obtained by other means; and they offer the promise of major advancements in diagnosis, prognosis, therapy, and even prevention. At the same time, however, by their nature these results may be construed to have major predictive consequences for individual patient sources and their families; and this fact has wrested the entire topic of research on human tissue samples from its historic state of repose in obscurity and thrust it sharply into the public consciouness.
The issues before us have been reviewed in the last two years by a number of committees and groups, and a number of proposals have been circulated or published that call for the imposition of stringent, elaborately detailed protocols of informed consent for all research with human tissue samples that uses genetic tests or creates genetic information. Although the proposals reflect a strong bioethical and legal perspective, they have suffered from a lack of broad-based scientific input. Many of my scientific colleagues and I find them disappointing and unduly threatening to an entire class of very promising research. I believe that the various proposals come down too heavily on the side of private interest at the expense of public benefit and thereby distort the delicate equipoise that must always be respected in research involving human subjects. I wish first to make three general observations about the process to date, and then turn to some specific recommendations.
First, the deliberations have failed to distinguish between two quite different issues, genetic testing, which I argue should be defined narrowly and which raises considerations of definition and appropriate informed consent, and genetic information, which can be obtained or inferred from a myriad of clinical and research sources and which raises concerns of privacy and the protection of confidentiality. Second, it has been too readily accepted that genetic information is unique and different in kind from all other private, sensitive and often predictive information that may exist in a medical record. To the contrary, I would argue that the difference is not so much qualitative as one of degree; and the distinction is important in devising appropriate and workable mechanisms for protecting confidentiality. And third, it is disappointing that in attempting to deal with issues that largely center on preventing the misuse of genetic information developed through research, so much of the effort has been expended not in trying to strengthen the protection of that information, but in burdening the conduct of genetic inquiry and erecting barriers to the ongoing creation of the knowledge base.
I will now offer some specific recommendations, which I recognize will be controversial, but which represent a scientific perspective that I believe has been lacking from the deliberations to date.
With respect to research on human tissue specimens collected prospectively in the course of medical care, it is generally recognized that consent language must be strengthened. However, that does not support the conclusion that the same stringent and elaborate model of informed consent that is appropriate for enlisting subjects into research projects like clinical trials is appropriate for directing the research use of tissue samples collected in the course of medical care. For one thing, when enlisting individuals into research protocols, it is possible to provide them with detailed information about the proposed research, including its likely benefits, if any, and risks. In contrast, in seeking permission to use tissue samples for research, it is impossible to provide even an educated guess - let alone a detailed accounting - of the potential research studies in which that sample might someday be involved, or the kinds of research methodologies that might be used. The more detail one attempts to introduce into the process, the more speculative one must become; and the greater the likelihood that increasing confusion and concern will subvert a process designed to solicit informed consent into one that encourages "uninformed denial."
Any new consent protocols that are developed for use in the clinical setting must be clear and simple and provide the patient with a clear "yes/no" option. Moreover, they should be crafted as a general informed consent and be consistent with the premise that the national tissue archive has always been, and should remain, a public resource dedicated to the public good and not, like a savings bank, a repository of private property.
I would like to offer two concluding observations. First, as I have indicated earlier in this presentation, I find it unfortunate that in attempting to deal with issues that largely center on preventing the misuse of genetic information developed through research, so much of the effort of the several committees and working groups has been expended not in trying to strengthen protection of that information, but in burdening the conduct of genetic inquiry and erecting barriers to the continuing creation of the knowledge base. This history illustrates all too well the difficulties that can result from well-intended, but perhaps overly zealous efforts to protect the confidentiality of private, personal information by burdening its creation in response to society's failure adequately to secure that information from misuse.
Second, I reiterate that we live at a time of remarkable progress in science and technology, especially in the biomedical and information sciences, and of profound transformation of the health care delivery system. Given these circumstances, it is inevitable that challenging issues of informed consent and the ownership and stewardship of patient data will continue to arise. We will continue to be vexed by troubling questions that lie at the boundary between society's commitment to individual autonomy and its compelling interest in the benefits that flow from the generous public investment in biomedical research. It is important that policies emerge from the current debate that are attentive to patient privacy and respectful of informed consent. But at the same time, those policies must not unduly encumber the accessibility and communicability of clinical and research databases that are essential for effective patient care and efficient functioning of the healthcare delivery systems, and for assuring the continuing accretion of biomedical knowledge. The policies must thoughtfully and sensitively balance the competing values of private interest and public benefit and not be unduly shaped by emotionally charged and often exaggerated public fears. Perhaps most important, unremitting effort must be exerted toward strengthening the protection of sensitive, private information created clinically or in research and thereby allaying, at least in part, those public concerns that are now expressed in efforts that will significantly burden scientific inquiry to the detriment of future generations.
Thank you.