Increased Amount of Health Information
Personalized medicine is information intensive. High-dimensionality data created using genomics and other 'omics' technologies are central to many of the predictive, diagnostic and therapeutic applications of personalized medicine. However, the substantial increase in individual health information this approach requires is also one of the main sources of ethical, legal and social concerns regarding personalized medicine. The capability to utilize genomic information in the clinic depends heavily on health information technologies. Electronic health records (EHRs) and EHR networks are being widely adopted in the developed world. Health information, traditionally in the sole possession of healthcare providers, increasingly is also in the possession of individuals (in the form of personal health records) and third parties (obtained pursuant to patient-signed authorizations). In this section, we explore four categories of concerns raised by generating, aggregating, analyzing, storing and using health information for personalized medicine.
Privacy and related terms are often used imprecisely and therefore it is valuable to begin with some definitions. Privacy is a condition of limited access to an individual or information regarding an individual. In this article, we focus on informational health privacy, although there are several other types of privacy, including physical, decisional, proprietary and relational or associational privacy. The related concept of confidentiality is a condition under which information obtained or disclosed within a confidential relationship is not redisclosed without the permission of the individual. The paradigmatic example of confidentiality is a physician's duty not to disclose patient health information unless authorized by the patient or required by law. Security refers to the physical and electronic measures granting access to personal health information to persons or entities authorized to receive it and denying access to others.
In much of Europe, the term 'data protection' takes on a similar meaning to informational privacy in the USA. In any jurisdiction, there are three main reasons why the protection of informational health privacy is so important. First, individuals may suffer from embarrassment, stigma, discrimination and other harms to their dignity if sensitive information is inappropriately disclosed. Second, the quality of healthcare may be compromised if individuals who fear improper disclosure of their sensitive information forego timely treatment for stigmatizing conditions or engage in defensive practices, such as withholding certain information from their healthcare providers. Third, public health harms may occur if individuals with infectious diseases, mental illness, substance abuse or other sensitive conditions delay or decline treatment because they fear a loss of privacy.
The development of EHRs and EHR networks in much of the industrialized world increases the privacy risk because EHRs are typically comprehensive (containing records of clinical encounters with essentially all of an individual's healthcare providers), longitudinal (containing health records over an extended period of time) and instantaneously distributed to multiple parties. One consequence is that even decades-old, sensitive information remains a part of an individual's record and can be viewed by anyone with access to the EHR. Technologies and policies to give patients greater control of the contents of their health records and to limit third-party access to them, including data segmentation, are being widely considered in several countries. These measures are quite controversial, however, because they can result in certain healthcare providers having incomplete access to patient information. In any event, data segmentation has not yet been adopted to any significant extent.
Although people are justifiably outraged by unauthorized hacking into sensitive information, including health records, unnecessarily broad, authorized access to health records is more common and thus constitutes a greater problem. As described in more detail below, there are two main ways in which excessive, authorized disclosures may come about. First, a healthcare provider, especially a physician, with a legitimate need to use only part of an individual's health record ordinarily gets unlimited ('role-based') access, and this is a source of concern for some patients. For example, a physician in an emergency department treating a woman for a sprained ankle is unlikely to need access to the woman's reproductive health history or genetic information. As a practical matter, busy physicians do not have the time or inclination to troll through health records in search of sensitive information. Nevertheless, many patients are likely to prefer that potentially stigmatizing genetic test results, such as those indicating a risk for developing Alzheimer's disease, not be disclosed to every physician whom they encounter in the healthcare system. Second, many third parties with an interest in an individual's health and economic leverage over the individual can make signing an authorization to disclose health information a condition of, for example, applying for a life insurance policy. These 'compelled disclosures' increasingly include genetic and other information associated with personalized medicine. Thus, the ability of an individual or healthcare provider to keep the information confidential is seriously called into question.
Discrimination is another widely used term with different meanings. One type of discrimination refers to drawing a legally or socially unacceptable distinction among individuals. This type of discrimination often relies on questionable stereotypes rather than assessment of individual merit, eligibility or ability; it results in the impermissible stratification of society and the denial of essential opportunities to members of a disfavored segment of the population.
The other main type of discrimination simply refers to drawing distinctions in ways that, in the context, are considered rational or socially acceptable. This type of discrimination is best characterized by actuarial decision-making in the insurance industry. On this account, it is acceptable (and even imperative to the industry) to treat individuals differently according to their risk so long as there is a sound actuarial basis for doing so. It should be noted, however, that some forms of irrational discrimination are at least tolerated by society and some forms of rational discrimination are not. For example, in the USA, it is lawful for an employer to hire employees on the basis of their zodiac sign (irrational), but it is unlawful for an employer to refuse to hire a pregnant woman who will soon take maternity leave (rational). Public policy is based on more than rationality.
Depending on the context, genetic discrimination might be rational or irrational, legal or illegal. The possibility of genotype-based discrimination was one of the first concerns raised by scholars examining the ethical, legal and social implications of the Human Genome Project. An assumption of many genetics researchers and public officials was that individuals would be reluctant to undergo genetic testing, despite the clinical appropriateness of doing so, if it could result in discrimination in employment, insurance, mortgages or other important activities.
Personalized medicine, with its potential to draw ever-finer distinctions among individuals, could play a part in 'genetic discrimination', because even small genomic differences can have significant economic implications. For example, genomic information could indicate not only that an individual is more likely to develop a certain illness in the future, but also that the individual would not be responsive to standard medications and therefore represented an increased morbidity and mortality risk.
Legislation attempting to prevent genetic discrimination in life insurance and other transactions has been enacted in many countries.[10,11] Most of these laws treat genetic information separately from other health information, another policy that is potentially irrational since it is based on 'genetic exceptionalism'. Many of these laws attempt to prevent genetic discrimination by limiting the information that can be used to assess an individual's likely future health. Beyond privacy concerns, the fundamental issue of genetic discrimination is risk allocation. For example, in the USA, as of 2014, private health insurance companies are not permitted to use an individual's health status (including genetic information) in deciding whether to issue an insurance policy. Although predictive health information is highly relevant from an actuarial standpoint, the new law expresses the public policy in favor of unrestricted access to commercial health insurance that justifies spreading risk across all individuals with insurance. Similar policy questions animate discussions about underwriting for life insurance and other insurance products.
Personalized medicine is likely to have major effects on the physician–patient relationship. In the pregenomic era, the diagnosis and treatment of genetic disorders was the exclusive province of clinical geneticists, pediatricians, neurologists, oncologists and a few other specialists. In the era of personalized medicine, the focus is shifting from rare monogenic disorders to common chronic diseases, and the responsibility for treating patients with asthma, hypertension, diabetes and similar disorders belongs to primary care physicians and a wide range of specialists. The first issue is whether these physicians have adequate training to provide the essential services of personalized medicine, such as the interpretation of whole-genome sequencing results, formulating prevention and treatment strategies based on genomic information and applying pharmacogenomic principles and products in prescribing.
Besides a lack of training on the part of physicians, another problem is the lack of time. Because personalized medicine will often involve the use of genome sequencing or other complex laboratory tests, this is likely to increase the time needed for a number of clinical tasks. For example, because a genetic test is performed, pretest genetic counseling is necessary to determine whether the patient understands the implications of the test on his or her healthcare, as well as the possible social implications of test results. After receiving the test results, the physician must interpret the information and apply genomic insights in designing a treatment plan. Widely varying health literacy among patients means that some patients will need much more time for explanations. All of these steps are time consuming, yet the trend in healthcare is not to increase, but to decrease the amount of time for clinical encounters.
It is not clear what effects personalized medicine will have on time-pressured clinical encounters. One possibility is that providers will make trade-offs, spending less time on some patient complaints or conditions in order to spend more time on others. This might lead to an unsatisfactory physician–patient relationship, as well as the possibility that subtle sentinel events will be overlooked until they develop into more persistent medical problems. Another possibility is that nurses or other allied healthcare providers will be given greater responsibility in counseling or follow-up, despite a similar lack of training. Still another possibility is that patients will need to assume a larger role in their own health management. In any event, it is quite likely that personalized medicine will lead to changes in the physician–patient relationship.
In the USA, and undoubtedly other countries, the development of personalized medicine will almost certainly increase personal injury litigation. Every new medical technology, from transplants to sophisticated imaging, has increased the complexity of medical interventions. With greater complexity comes an increased risk that an error by a healthcare provider will cause harm to the patient, thereby creating the potential for liability. There is a long list of parties that might be sued, including manufacturers of genome sequencers, testing laboratories, pharmaceutical companies, medical device manufacturers, pharmacists and hospitals. At the top of the list are physicians, who are responsible for a patient's overall diagnosis and treatment. As has been well documented, many physicians lack formal training and experience in the fast-moving field of personalized medicine, thereby raising concerns regarding their ability to meet a changing and more demanding standard of care.
Numerous possibilities exist for medical malpractice and related claims based on personalized medicine, including tumor genome sequencing, cancer predisposition screening, prenatal testing (including noninvasive prenatal testing), newborn screening and pharmacogenomic testing and prescribing. A discussion of the legal issues is beyond the scope of this article, but it should be noted that the increased amount of genomic information associated with personalized medicine gives rise to additional professional responsibilities. The nature of these responsibilities remains uncertain, however. The possible duty of clinicians – and even researchers – to report incidental findings to patients revealed by whole-exome or whole-genome sequencing remains unsettled.[16,17] In addition, the responsibility to respect or override patient preferences on secondary genomic findings is hotly contested, as demonstrated by the recent modification by the American College of Medical Genetics and Genomics (ACMG) of its own recommendations on this issue.[18,19] Personalized medicine, to a currently unknown degree, raises the possibility of legal liability stemming from access to and use of an increased amount of sensitive health information.
Personalized Medicine. 2015;12(1):43-51. © 2015 Future Medicine Ltd.