Disclosure of Patients’ Genetic Information Without Their Consent–Is the “Public Interest” Really a Sufficient Justification?
New guidance issued by the U.K. General Medical Council (GMC) regarding a physician’s ability to disclose to a patient’s relatives the diagnosis of such patient’s genetic illness1 has recently been a hot topic of discussion on several online forums.2 The guidance, which became effective on October 12, 2009 and addresses medical privacy issues in a variety of contexts (not just genetic information sharing), recognizes that the diagnosis of a patient’s genetic illness may indicate the likelihood of the same illness in the patient’s close blood relatives. The GMC suggests that a physician’s first obligation after diagnosing a genetic illness is to explain to the patient the likelihood that close relatives are also at risk and to encourage the patient to discuss his or her illness with relatives. However, should the patient refuse to voluntarily disclose the illness to at risk family members, the physician may disclose such information if disclosure would be “justified in the public interest.” Physicians are instructed to balance their duty to provide care to the patient against their duty to protect others from serious harm.3
Much of the discourse arising in connection with the new GMC guidance stems from a perceived breach of the patient’s right to privacy and an erosion of the ever sacred principle of doctor-patient confidentiality. While these are certainly valid concerns, the idea that certain medical information may be disclosed in the public interest is not a new concept in the U.K. or even the U.S. For example, most states in the U.S. require physicians to report to the local or state board of health cases of certain communicable or infectious diseases. Furthermore, at least six states require physicians to report to the Department of Motor Vehicles the diagnosis of diseases that may impair the patient’s ability to drive.4 These statutorily mandated disclosures may be made against the patient’s wishes and without the patient’s authorization.5
Perhaps the increased concern surrounding the GMC guidance is triggered because the disclosure of genetic information is specifically permitted. While many people can understand the “public interest” justification for disclosing cases of communicable diseases that may spread through the population or illnesses that might make the patient a danger to others on public roadways, maybe they are less willing to place genetic information in this category. One might argue that it is not really the public who benefits when the existence of a patient’s genetic disease is disclosed to his or her at risk relatives; instead, the potential benefit of disclosure reaches only a set of closely related individuals with whom the patient may share genetic traits. This is fundamentally different from laws permitting the disclosure of conditions that may affect the community at large.6 Moreover, genetic information is arguably about as personal as medical information gets, and concern over adverse effects should genetic information fall into the wrong hands (pdf) can run high. Accordingly, the “greater good” argument may not be sufficient to justify its disclosure to any third party—even family—without the patient’s consent.
In the U.S., many states have passed legislation aimed at protecting the confidentiality of genetic information specifically. Massachusetts prohibits the disclosure of physician records pertaining to any genetic information without the patient’s informed written consent. Likewise, in Nevada it is unlawful to disclose or to compel a person to disclose the identity of a person who was the subject of a genetic test or to disclose the genetic information of such person in a manner allowing identification of such person without his or her informed written consent. California even goes so far as to impose criminal penalties for certain willful or negligent disclosures of the results of a test for a genetic characteristic without the patient’s written authorization.
Actions at both the state and federal levels, including the passage of GINA (discussed below), suggest that the prevailing view amongst U.S. policy- and law-makers appears to be that genetic information deserves heightened forms of protection. Nearly all states that have enacted legislation addressing the disclosure of genetic information, like the several mentioned above, require informed written consent rather than the less stringent authorization required for disclosure of other protected health information.7 This fierce protection of the patient’s privacy in his or her genetic information seems a stark contrast to the GMC’s view that doctors should disclose a patient’s genetic illnesses if such disclosure is in the broad public interest. State legislation in the U.S. appears to take the contrary view that an individual’s genetic information belongs solely to the individual, not to the public at large. In fact, at least one state (Alaska) expressly recognizes in its statute this concept: “[A] DNA sample and the results of a DNA analysis performed on the sample are the exclusive property of the person sampled or analyzed.”
So, why the difference in philosophy between the U.S. and the U.K.? Over at The Cross-Border Biotech Blog, Jeremy Grushcow has suggested that the difference can be traced to the presence of universal healthcare in the U.K. (“In Praise of Universal Coverage From a Genomics Perspective”). Particularly in the U.S., a major impetus for protecting the confidentiality of genetic information is the fear of discrimination by insurers and others, a fear that was central in producing the passage of GINA last year. According to Grushcow, “universal coverage is the cure,” rendering individuals “(functionally) genomic equals when deciding on healthcare policy” and paving the way for the GMC’s altruistic, societal approach to the disclosure of medical information, including genetic test results. Universal healthcare coverage protects the patient from the risk of losing his or her health insurance or being forced to bear a higher cost of insurance and therefore, Grushcow contends, allows the patient, and others through the sharing of results, to benefit from the information obtained from genetic testing. Grushcow concludes: “if the U.S. moves into the genomic era without universal coverage, it will exacerbate existing inequalities and create new ones we haven’t even imagined.”
However, Grushcow does not consider other avenues by which this particular discrimination issue may be addressed. Last year the U.S. took an alternative step to address the role of genetics in health insurance with the passage of the Genetic Information Nondiscrimination Act of 2008 (GINA), which prohibits discrimination on the basis of genetic information by insurance companies or employers. (In the U.K., on the other hand, the House of Lords examined the issue of genetic discrimination in its recent report, Genomic Medicine, and concluded that there was no need at present for “specific legislation against genetic discrimination.”) While GINA does not prohibit all genetic discrimination (life insurance, long-term care and other areas do not fall under GINA), it does prevent discrimination in premium and underwriting decisions by health insurers. Although far from perfect, GINA has been largely well-received and represents a viable alternative to universal healthcare for the purpose of addressing the fears of health insurance discrimination among those who desire, or require, access to their genetic information. Yet despite GINA’s passage, the U.S. still seems to hold sacred the privacy of genetic information. There must be other factors at play.
The risk of losing one’s health insurance is certainly not the only risk that may arise if personal genetic information is disclosed to third parties, even if only to relatives. Disclosure could affect social interactions or relationships among family members. Furthermore, whether or not legal, the patient may be at risk of discrimination by a host of third parties in addition to health insurers. Although possible misuses of genetic information can be hypothesized (the Personal Genome Project’s informed consent protocol (pdf), for example, contains a lengthy list of potential “risks and discomforts” that might result from the disclosure of one’s genetic information), the reality is that in these early days of widely available personal genetic information, perceived risks may be non-issues and actual risks may be currently unknown.
The GMC’s new guidance also raises questions regarding the rights of the patient’s relatives not to know about their propensity for an inherited disease.8 Perhaps an individual has made a personal decision not to submit to a genetic test because he or she would rather not learn the probability of contracting a particular disease. A doctor following the GMC guidance may end up disclosing to the patient’s relative precisely the information he or she has chosen not to acquire. What if the reason the patient refuses to tell the relative about the patient’s genetic disease is because the patient knows that the relative has made this personal decision not to be tested? In these situations, the patient, rather than the doctor, may be in the best position to decide who should learn of the patient’s genetic illness.
GINA and especially universal healthcare are incapable of addressing these issues – neither can assuage both known and unknown fears about the misuse of genetic information or ensure that an individual’s right not to know their genetic information is respected. At least for a certain segment of patients and of the broader populace, maintaining the privacy of genetic information may represent the only way to fully address these issues. Although, as we have argued repeatedly here at the GLR, an absolute promise of genetic privacy would be irresponsible, there is a wide gulf between undertaking a concerted effort to maintain the privacy of an individual’s genetic information and the alternative proposed by the GMC’s guidance, which permits doctors to exercise considerable discretion in deciding whether an individual’s desire for genetic privacy outweighs the “public interest.” Without strong assurances of privacy, the various risks associated with third parties becoming privy to personalized genetic information may deter some patients from undergoing a genetic test in the first place. Such a result benefits neither the individual who desires the test nor the “public interest” that the GMC guidance hopes to protect. For many people, privacy is a critical factor in the decision to participate in a genetic test or genomic sequencing.
In summary, the ability of a doctor to reveal patients’ medical information in the “public interest” is particularly complicated in the realm of genetic medicine, and granting doctors the ability to override their patients’ preferences may not be a positive development overall. No one, neither the individual nor the general public, will benefit if patients are dissuaded from undergoing clinically indicated genetic testing. It is undoubtedly true that most patients would opt to share information with at risk family members, but those who choose not to might refuse testing altogether if they understood that results could be disclosed without their consent. Plus, there is potential that disclosure in the “public interest” could extend to third parties beyond the patient’s immediate family. This is an even greater disincentive. Whatever an individual patient’s reasons, it is clear that there is a firmly rooted belief, shared by many, that genetic information is uniquely personal and should be capable of being maintained in a private fashion. Attempting to run roughshod over that belief may discourage many from exploring the benefits of the emerging field of genomics and personalized medicine. In this particular respect, the GMC’s proposed approach to genetic information sharing may be misguided.
1 The ability to disclose is probably triggered both by the discovery of a genetic disease that has already manifested in the patient and by the results of a genetic test showing a propensity for a genetic disease, even if such disease has not yet manifested. The GMC’s policy concerns would be the same in either scenario.
3 In a press release issued last month, the chair of the GMC’s working group on confidentiality, Dr. Henrietta Campbell, stated, “This guidance makes clear that, in the first instance, doctors should explain to a patient if their family might be at risk of inheriting a condition. In those circumstances, most will readily share information about their health. However, if a person refuses, it is the responsibility of the doctor to protect those who may be at risk.”
4 California, Delaware, Nevada, New Jersey, Oregon and Pennsylvania require such reports to the DMV.
5 Generally, the Health Insurance Portability and Accountability Act (“HIPAA”) prohibits disclosure by a health care provider of a patient’s health information without the patient’s authorization. See 45 C.F.R. §164.502. However, HIPAA excepts from the general rule disclosure of protected health information as required by law. Id. at §164.512. Patient authorization and opportunity to agree or object is not required for any disclosure required by law. Id.
6 Furthermore, the above mentioned mandatory disclosures of certain communicable diseases and driver impairments are narrow and specifically defined by statute. A broad “public interest” exception to doctors’ duty of confidentiality to their patients is probably unacceptable to most people even if genetic information is not involved. This concept, however, is beyond the scope of this discussion, which focuses only on the disclosure of genetic information.
7 See, e.g., ALASKA STAT. §18.13.010 (“[A] person may not collect a DNA sample from a person, perform a DNA analysis on a sample, retain a DNA sample or the results of a DNA analysis, or disclose the results of a DNA analysis unless the person has first obtained the informed and written consent of the person, or the person’s legal guardian or authorized representative, for the collection, analysis, retention, or disclosure.”); MINN. STAT. §13.386 (prohibiting collection and dissemination of genetic information unless individual gives written informed consent).
8 Guidance from the U.K. Joint Committee on Medical Genetics, Consent and Confidentiality in Genetic Practice: Guidance on Genetic Testing and Sharing Genetic Information (April 2006), recognizes the right of a person not to learn of their genetic propensities for certain diseases and indicates that “an insistence on imparting unwanted information could be interpreted as a breach of a person’s right to private and family life.” However, this guidance, like the GMC guidance, condones the disclosure of genetic information over the patient’s refusal to consent if “disclosure substantially outweighs the patient’s claim to confidentiality.” An example given in the guidance is a person who refuses to inform relatives of a genetic risk of which they are unaware.