While the impact of genetics upon insurance and employment have been recognized from the start of the rise of contemporary genetics, there are a number of areas just below the surface in which high speed genetics creates new problems. These areas include its impact upon genetic counseling and a host of difficulties raised by the convergence of this technology with the increasing computerization of the medical record.
3.3.1. Genetic Counseling. As noted above, the present process of genetic testing involves intensive counseling of testees and sometimes their families who may be impacted by the testing as well. The development, however, of high speed, comprehensive and inexpensive genetic testing, while a boon to the practice of medicine, may make it all but impossible to effectively counsel patients. Each genetic disease has its own unique set of circumstances, impacting the individual and family in very different ways. Strong social stigma may be attached to some genetic conditions, and the interpretation of genetic testing is complex and requires a great deal of knowledge and background. Patients need a great deal of education to be able to assess the need for and consequences of genetic testing.
Yet when we multiply the need for this education for each genetic condition several thousand fold in testing for multiple genes at a time, and when we place the testing apparatus in the hands of individual doctors and counselors, how will we be able to adequately educate and counsel patients about these tests? There is already evidence that many physicians ordering diagnostic genetic tests do not fully or even adequately understand the results, let alone adequately prepare their patients for testing, even when the testing is restricted to conditions of their specialty (Giardiello et al., 1997).
The prospect of easily accessible genetic testing, perhaps one day marketed directly to the consumer, that is fast and inexpensive may lead to too much information too fast. Without adequate counseling and interpretation by qualified physicians and counselors, individuals may be overburdened with information that they are simply not competent to understand. The possibility for misinterpretation without proper guidance is great, and could lead to imprudent decisions by patients and physicians who are not trained to interpret the results of genetic testing. While I expect that along side of high speed genetic testing computerized interpretation of its results will develop, a consistent level of expertise amongst health care providers necessary to adequately interpret and act upon genetic testing results outside of the specialty of medical genetics will be long in coming. Genetic testing technology is rapidly outstripping the competence of health care providers to interpret it and high speed genetic technologies will radically exacerbate this problem.
3.3.2. Genetic Testing and the Computerized Medical Record. This is perhaps the most disturbing result of the development of this new genetic testing technology. Because the gene chips produced by Affymetrix and others rely upon the computer to analyze the raw data coming from the reading of the chip itself, the results of the testing are presented in computer code of the sequences which have matched. Depending upon the construction of the oligonucleotide probes on the chip, this code may be the entire sequence of a gene being tested, or it may indicate the specific allele(s) of perhaps a large number of specific genes being tested. Hence the computerized results will contain either raw sequence, or the specific sequences of small portions of a large number of genes, in addition to the immediate interpretation of these sequences in terms of the presence or absence of specific known alleles of the specified genes. While the results can be reviewed directly on screen using the software provided by the company, or printed out, it is unlikely that this computerized genetic information will then be discarded. Indeed, when such testing technology is finally approved for clinical use, whether in commercial testing laboratories, hospital cytogenetic laboratories or in the physician's office, the computerized code representing the specific genetic sequences tested will inevitably be ported into a computerized medical record.
There are a number of advantages to this arrangement. First, it allows the physician or other specialist to access the raw sequence, thus enabling them to apply new knowledge to genetic information which has already been gathered. Specific alleles, for instance, may indicate how an individual will respond to different therapies developed in the future. Fur thermore, by retaining genetic information in the computerized medical record, this information is more easily shared amoungst consulting physicians, or transmitted to remote sites to which the patient may travel or relocate. Furthermore, by including detailed genetic information in the medical record, it will be possible for researchers later to cull such vast and detailed records for associations between specific genes or alleles and the medical history and demographic information included therein. Such would be an exceedingly powerful database for a wide variety of epidemiological research.
But the sword cuts in several directions. While a boost to the practice of medicine and the enterprise of research, the inclusion of large quantities and highly specific genetic information in the medical record can also be a hazard to the patient in a number of respects.
We have already discussed the impact of high speed genetic testing on insurance and employment. I will only point out here that the inclusion of this information in a computerized medical record further exacerbates these problems by making detailed genetic information readily available to insurers and employers, who already have a variety of ways of accessing the medical record. High speed genetic testing results coded in a computerized medical record simply hands insurers and employers genetic information on a silver platter, or rather, on an aluminum disc.
Equally troubling, however, are the issues of privacy and confidentiality. Medical records, and especially computerized medical records, have long been recognized as veritable sieves. Such records are routinely accessible to large numbers of individuals at hospitals, whether they have a need to know or not. In addition, patients are routinely required to authorize the release of their medical records to insurance companies as a condition of coverage, and these insurers in turn hand patient records over to such agencies as the Medical Information Bureau and other data clearing houses for sharing with other commercial interests.
Aside from the use of these records by insurers and employers for purposes of minimizing their risks and costs, is there good reason to decry the openness of the medical record? There are two responses to this question. First, other harms may befall individuals whose medical records have been made accessible to other individuals.
3.3.3. Embarrassment of Disclosure. Some medical and genetic information is highly personal and its disclosure may be an embarrassment to the individual and what is embarrassing or sensitive is itself a matter of personal feeling. Employees of a hospital, for instance, must bear the risk that their fellow employees with access to medical records may browse their records, simply out of curiosity. While some individuals may have the means to get their treatment else where, many employees will be forced by their insurance to get treatment in specific hospitals, and perhaps in the very hospital in which they work.
This problem, however, is not limited simply to employees of a health care institution. The large numbers of individuals who work in health care and have access to medical records exposes the general public who use these hospitals and facilities as well to the prying eyes and curiousity of electronic voyeurs.
While it is unpredictable what specific information an individual will find sensitive and thus rather not have disclosed to her neighbors or acquaintances, there is some genetic information that will be more sensitive than others. Particularly sensitive will be that information pertaining to personality and intelligence. Though we presently know very little about the genetic bases of personality, intelligence and psychiatric disorders, this knowledge will come in time. And just as we do not routinely discuss or disclose our IQs because we feel that that is personal information, so we may anticipate that individuals will have a strong interest in maintaining the confidentiality of such genetic information.
3.3.4. Genetic Reductionism. There is a danger that as we develop a more and more sophisticated understanding of genetics, that we will fail to recognize the limits of genetic knowledge. Dorothy Nelkin and Susan Lindee (1995) have already chronicled the penetrance of genetic ideology and metaphor into our popular culture. As the advancement of genetics continues, we can only expect an increasingly genetic ideology to envelop us. While genetic scientists and physicians will admit that genes are not the complete story of the human being, the increasing reliance on genetics enforces this erroneous stereotype. The danger is that individuals may be categorized on their basis of the genes, rather than on the basis of who they are and what they have accomplished or can accomplish. The increasing reliance on genetics leads us to make all sorts of judgments on the basis of things that are completely out of the control of the individual—his or her genes—to the exclusion of what is in his or her control—namely, the capacity to adapt and overcome whatever limitations may have been placed upon the individual by biology. Before high speed genetic testing becomes a routine part of our lives, we need to address society's tendency to oversimplify complex information and problems. What we need is vastly better education of the public about the meaning and limits of genetics.
3.3.5. Patient Trust in the Health Care System. It is perhaps a cliche that a physician has an obligation to maintain the strictest confidentiality in relationships with patients. The wisdom of this principle, expressed first by Hippocrates5 has never been seriously questioned. There are, however, a number of circumstances in which confidentiality is overridden by higher needs. These include consultation with other providers about patient care. Thus these other providers enter into a similar relationship with the patient. While the circle of those who are privy to confidential information is thus widened, it remains within the scope of the principle. But in addition to provider access to medical records which is a necessary condition of care, insurance companies, billing personnel, hospital records and informatics personnel, QA personnel and sometimes government and accrediting agencies all have access to the medical record. Patients have simply had to accept this less than optimal state of affairs as a condition of getting the medical care they need. The addition of detailed genetic information to the medical record, however, raises the stakes for the patient, as such information can harm their economic and employment interests in other domains. Given the large number of individuals and agencies that have access to the medical record, and given the conflicting interests some of these may have vis-a-vis the patient's interests, it would be irresponsible to place such detailed genetic information in the electronic medical record until adequate safeguards to protect this information have been established. The fate of the model Genetic Privacy Act (Annas et al., 1995), which sought to do just that, does not leave one sanguine about the prospects of meaningful reform in this area. The openess of the medical record is already of concern to many patients. The addition of information that has the potential to work against their own interests in that record can only serve to undermine patient trust in the health care system.
3.3.6. Harms vs. Wrongs. Even if the possible harms due to the disclosure of genetic information can be avoided by appropriate public policy, there remains the fact that patients expect that their records will remain confidential. Simply eliminating the possibility of harm due to disclosure does not eliminate the wrong or disservice to a patient whose records are open to perusal by so many individuals and agencies. Alexander Capron has elaborated on this distinction by arguing that a person who enters your house while nobody is home and neither takes nor disturbs any of your possessions, has not harmed you by removing or damaging any of your property, but has wronged you by both trespassing on your property and by violating your privacy (Capron, 1991).
The inclusion of detailed genetic information in the medical record leaves individuals open to such violations of their personal privacy, by exposing information which taken in its totality is unique to that individual and details a part of that person's past, present and future medical history. While genetic information is by no means the whole story of the individual human being, it is a significant enough part of the individual that the individual should expect that that information only be disclosed to those people who have a genuine need to know in order to advance that individual's own interests. Such information is simply too sensitive to leave open to perusal and use by as large a cohort as presently has access to the medical record, whether or not such use constitutes an actual harm to the patient.
3.3.7. Commercial Interests in the Medical Record. The introduction of managed care has increased the level of bureaucratic access to the medical record, not only to review individual patient care, but also for the purposes of reviewing provider practices which the managed care organization (MCO) may want to encourage or discourage. For instance, MCOs regularly review the patient records of treating physicians in order to assess the frequency with which physicians order various tests, treatments and prescriptions. While the MCO may argue that this activity is not different from standard quality assurance (QA) reviews, the purposes of the MCO review are at least two fold: 1) to indeed assess the quality of care delivered, but 2) to evaluate the practices of the provider in light of predetermined economic goals. Physicians who routinely order more diagnostic tests than average are encouraged to limit such orders. If they fail to, their future participation in the plan and consequent ability to treat current patients may be threatened and ultimately terminated. Although patients have of necessity (some might say, by coercion) signed over to the MCO the right to review their medical records, few patients actually understand that their records are being used for a purpose other than their own medical interests, namely, the advancement of the MCO's own economic interests.
There are other purposes as well to which a computerized medical record may contribute, particularly one which contains so much detailed genetic information as high speed testing will make possible. The Consumer Advocate for the City of New York, Mark Green, published a report in 1996 detailing the practices of pharmaceutical benefits managers (PBMs) in the development of formularies and the use of patient records to modify physician prescribing habits to conform to the set of drugs the PBM and MCO have decided to cover (Green, 1996b). Unfortunately, the choice of preferred drugs is in many cases based upon the amount of money a pharmaceutical manufacturer is willing to pay the PBM, or in some cases whether such manufacturer owns a controlling interest in the PBM. The report details several cases in which the pharmaceutical manufacturer has been given access to patient records for these purposes. One can only imagine to what other ends our medical records are put as well, once these corporations have a copy of our medical records. As more detailed genetic information becomes a part of these records, they will increasingly become more and more valuable as a research tool. Will PBMs and their manufacturer partners limit the use of these records to just their marketing potential—an activity that is already questionable enough—or will they not go on to further exploit our records and the genetic information they hold to further advance their commercial interests through basic biomedical research? For instance, a detailed genetic profile of patients taking a particular drug would serve a pharmaceutical manufacturer in discovering which genetic types are more or less susceptible to that drug's specific action, as well as side effects. While such information may also be of use to the patient, should they not have some say in whether their records and genotypes are used for this purpose?
Unfortunately, the situation is worse than that. It is routine for MCOs, pharmaceutical corporations and data management firms such as Equifax and IMS America to sell medical records back and forth (Kolata, 1995). The inclusion of detailed genetic information will not only make these records more valuable as a research tool, but they also obviate any pretense at the protection of individual confidentiality, even if the records have been stripped of personal identifiers. This is because the amount of genetic information is already specific enough to uniquely identify an individual. Indeed, it has even been proposed that a person's social security number be replaced by a unique genetic sequence of their DNA as a personal identifier (Dahm, 1997). Thus, in principle, anybody into whose hands such records fall may be able to identify the individual person even if their name and address has been stripped from the record.
There is another domain in which "anonymity" becomes highly problematic: the use of "anonymous" tissues and cells in research. As soon as a sufficient amount of genetic information is incorporated into the medical record, the idea of an "anonymous" tissue sample will become an oxymoron, since one need only test the genotype of the specimen and then search the medical record databases for the corresponding unique sequence or genotype. Since a great deal of genetic research is conducted on anonymous tissue samples precisely because it is believed that the source of those tissues cannot be harmed because they are anonymous, the impending loss of anonymity will suddenly create a host of human research subjects suddenly "at risk" but for whom no institutional protections exist since the research is often conducted outside the purview of the institutional review boards whose charge it is to protect such subjects. The research is outside of their purview precisely because in the U.S. the Federal Regulations exempt such research from IRB review and consequently from any process of informed consent on the part of the sources of those tissues.6
3.3.8. Research Interests in the Medical Record. It is now-a-days difficult to discuss the conduct of biomedical research outside of the context of commercial interests.7 The above scenario raises deep problems about individuals' right to privacy, who "owns" the medical record and hence who can profit from it, and what obligations are owed to patients. High speed genetic testing, as I have argued will make these records even more valuable and we can expect large numbers of interests to line up at the electronic feeding trough in the future. It is becoming increasingly difficult to distinguish between pure "research" interest in these electronic medical records and the resultant commercial interests since scientists themselves have discovered their own financial interests in exploiting the knowledge they produce, even if at public expense.
Nevertheless, if we can abstract for a moment from these commercial interests, we find behind them a genuine interest on the part of biomedical research to exploit the value of genetics and the wealth of information genetic testing will produce in the electronic medical record, for the public good. After all, if knowledge is commercially valuable, it is ultimately so because that knowledge will contribute to the practice of medical and/or public health. Thus researchers claim that apart from the commercial exploitation of medical records, they should have access for the purpose of generating generalizable knowledge of benefit to all. Thus if we clear away the obfuscation of market interests, we find at bottom a fundamental conflict between individual patients' expectations of, if not rights to, the privacy of their medical record against society's interest in exploiting the information contained therein for the benefit of all. It is fundamentally a value judgment how we settle this conflict.
This raises one of the more interesting questions of how we evaluate problems raised by complex new technologies. Typically, the ones who best understand these technologies are the ones who seek to exploit them, for whatever purpose. The individuals or groups, however, who may have an interest—whether as a matter of right or a matter of protection from harms—and in this case individual patients, generally have neither the background, experience nor knowledge to fully appreciate the possibilities of such technologies and how they may be exploited. Thus, who is going to speak for those who essentially have no representation in such decisions? Is it sufficient for the managers of managed care, the scientists and the CEOs of various biotechnology firms to set their own standards for protection of patient confidentiality and privacy, or is this tantamount to simply letting the fox guard the chicken coop?
3.3.9. The Darker Side. On August 21, 1996, the New York Times carried a story reporting that New Jersey law enforcement officials arrested 12 alledged members of the Genovese crime family on charges of racketeering and conspiracy for infiltrating Tri-Con Associates, a health care corporation which "arranged and managed group medical, dental and optical programs for employers and unions with networks of health-care providers" (Raab, 1996). In addition to submitting false claims, inflating fees and laundering money—usual mob activities—prosecutors were very worried that because Tri-Con had access to patient records, these records might be used for the purpose of blackmail and extortion. Robert Buccino, of the Organized Crime Bureau of New Jersey, was quoted, saying "They did have access to medical records, and it could be used for extortion and other criminal purposes." To my knowledge, they found no further evidence of such activities, but I suspect that if not at Tri-Con, we will see other examples of this in the future.
The possibility of individuals gaining access to medical records, and particularly medical records replete with detailed genetic information, for the purpose of exploiting that information for personal gain and against the interests of the patient is a scary prospect. For here, not only are patients' rights to privacy and confidentiality violated, but their interests may be directly harmed in a variety of ways. We do not need a take over of an MCO by the mob for this to happen. We need only individuals who have access to medical records to exploit this access.
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