With the completion of the Human Genome Project, in 2003, approximately 3 billion DNA bases of the human DNA have been generated, stored, and managed (Carrasco-Ramiro 2017). This has resulted in the development and application of the information through Precision Medicine. Precision medicine can be defined as: “the ability to classify individuals into subpopulations that differ in their susceptibility to a particular disease, in the biology and/or prognosis of those diseases they may develop, or in their response to a specific treatment. Preventive or therapeutic interventions can then be concentrated on those who will benefit, sparing expense and side effects for those who will not.” (National Research Council 2011) Such examples of Precision Medicine include the drug BIDIL (Sankar 2005), and Herceptin Trastuzumb, a breast cancer drug that helps to improve the prognoses of patients whose tumour overexpresses the HER-2 gene. (Azencott 2018)
While precision medicine could possibly bring about many benefits, as will be addressed briefly in the next section, the developments have resulted in several social concerns, one of which being the matter of privacy. In this paper, I will highlight how privacy is a social problem stemming from precision medicine, based on recent literature on the matter.
Benefits
This ability to analyse genomic data and create genetic profiles of individuals in a systematic manner has allowed the medical field to find genomic similarities between patients who suffer from the same or similar illnesses. This development has allowed the medical field to come up with better, more specific medication for patients. It can also be used to test their responses to certain treatments, as well as the medication’s effectiveness. (Azencott 2018) These new opportunities to create genetic profiles, and to tailor them to the right precision medications (and vice versa) (Bonham et al., 2005), has led to a potential increase in pharmaceutical worth for precision medicine (National Institute for General Medical Sciences 2000).
Precision Medicine, Genetic Testing and Privacy
However, precision medicine brings with it an array of issues, one of which being privacy. Privacy, here, refers to the “condition of limited access to an individual or information regarding an individual.” (Joly and Knoppers 2015) Although there are several types of privacy, each with its own set of problems, the issue of informational health privacy (Holm 2002) brings about unwanted social consequences that ought to be brought to light and addressed.
Informational health privacy can be defined as: “the claim of individuals, groups, or institutions to determine for themselves when, how, and to what extent information about them is communicated to others” (Roberts 2015)
There is a need for informational health as a result of precision medicine. It is important to remember that precision medicine encourages the generation of genetic profiles. These genetic profiles are often in and for institutions such as pharmaceutical companies, resulting from a change in approach to drug prescription. This change has allowed for various uses of analysis of genetics, and enable researchers to study the frequency of traits in individuals. (Fullwiley 2007) In fact, the value of genomic testing today now lies in precision medicine and vice versa (NIGMS 2000). For example, the African American heart medication, BIDIL, ushered in a new wave of research for racial profiling, where race was used as a category type to research on how genetic differences in individuals are affected by drugs. (Burchard et. al. 2003, Satel 2002) Such uses of genetic profiling, and hence, precision medicine, would then encourage data sharing, since data sharing would be the most efficient way to ensure that each genome sample is fully utilised to its potential. Such sharing is highly crucial for the field to develop, as it allows for the maximisation of each sample’s utility. (Azencott 2018)
The Need For Informational Health Privacy
However, such data, if not properly secured, could create causes for concern for the individuals who have had their genomic profiles created for the sake of the medication (precision medicine). These genomic sequences could be used to collect information that many would consider private. Such information include ancestry, allergies, or diseases in which they are more at risk of developing or already have. In fact, as a result of heredity, this data would also provide insight to the individual’s family history, at least to some extent. (Azencott 2018)
If an individual feels obliged or compelled to provide information (such as that of their genetic profile information) in which he or she is uncomfortable with, in which the individual feels that their privacy is considered to be compromised (Roberts 2015), or if an individual’s genomic profiles was accessed (say, by potential employers or insurers) without their full permission, they may end up feeling embarrassed, stigmatised or discriminated against. (Brothers and Rothstein 2015) According to the 2005 National Consumer Health Privacy Survey, it was found that 67% of Americans were concerned about the privacy of their personal health information. The survey then showed that a large portion of the consumers worried that they would be discriminated against when it came to employment as a result of their health information being accessed by potential employers. (Information Management Journal 2006).
Information could be used illegally, or in a socially unacceptable manner. Such discrimination often results in a type of stratification of society and a denial of an equal playing field toward the social minority, in a legally or socially impermissible way. (Brothers and Rothstein 2015) This, while has its faults, may not seem like a big concern as there are policies in place. One such policy would be Article 21 of the EU Charter of Fundamental Rights. This policy prevents any discrimination based on genetic features (among others) (Spear BB et al. 2001) In the USA, GINA, the Genetic Information Nondiscrimination Act prohibits potential employers as well as health insurers to have access and use genetic profiles. (Donoho 2000)
However, there is a more concerning way of discriminating individuals based on their genetic profiles. Such discrimination could occur through manners that may be considered socially or rationally acceptable (Brothers and Rothstein 2015). Individuals may be reluctant to have their genetic profiles for healthcare, as will be seen below, drawn up as they are concerned about such discrimination they might face in terms of employment, insurance, and other important activities that are considered “acceptable”. (Brothers and Rothstein 2015) Many third parties (such as insurance companies or potential employers) who are interested in an individual’s genomic profile may use this as leverage over the individuals. Even if systems and policies were in place to prevent third parties from accessing genetic profiles without the individual’s permission, ’compelled disclosures’ may occur. Such disclosures may be presented in a way to the individual such that the individual has little choice but to allow access to the profile. This is especially so if they need the job or the insurance. They are presented as a condition of the job or insurance policy. Although the individual need not sign it, they may be compelled to out of necessity, making it lawful for the third party to access their information. (Rothstein 2016)
In addition, despite these policies, access does not necessarily, or immediately, suggest discrimination. Even if policies exist to discourage discrimination, they may prove ineffective. For example, in 2008, the US signed into the law the Genetic Information Nondiscrimination Act (GINA). It was an attempt to “allay their concerns about the potential for discrimination, thereby allowing individuals to take advantage of genetic testing, technologies, research and new therapies.” (Green RC et al. 2015) While it was deemed a success, it was insufficient.
This is because, firstly, the act of genetic discrimination itself is hard to prove. From 2008 till 2014, while genetic testing increased substantially, there were little cases that GINA’s authority could test. There was be little to no evidence to determine whether it has occured. (Green RC et al. 2015) In addiction, these policies may not be sufficiently comprehensive. While GINA protected genetic information that showed family history, as well as prohibited discrimination that could occur in employment and health insurance, it did not cover those with manifest disease but not yet disable. (Green RC et al. 2015) These are only a few amongst the many issues with policies such like GINA.
Secondly, genomic information cannot be cancelled and replaced with a new one if the information from the genetic profile has been compromised. An individual’s genomic information cannot be changed, and thus once privacy has been compromised, an individual may feel unsafe (Azencott 2018). They may skip regular treatment or medication for conditions which are highly stigmatised. They may also become defensive toward those providing them with the healthcare they require, by not providing crucial information about their health to other healthcare providers who may need it. (Brothers and Rothstein 2015) According to the 2005 National Consumer Health Privacy Survey, out of the 25% who were are of privacy breaches, almost 50% expressed concern about seeking professional medical help for health issues and avoiding medical tests as a result. (Information Management Journal 2006)
Of course, there are other measures that could be in place in order to ensure privacy, such as anonymisation. Such a method would ensure that even if data were to be obtained, it cannot be traced to the specific individual.
The Problem with Anonymisation
It is possible to protect this data by making it anonymous, before being analysed or shared. In order to do this, unique identifiers (eg. names, age, race, etc.) are often removed from any genomic profile. An individual’s data will thus not be identified to the individual, creating a sense of privacy for the individual (Azencott 2018). For example, the HIPAA Privacy Rule strictly disallows the disclosure and use of information that could be used to identify an individual. (Sokhansanj 2012)
However, there are problems with such a method.
Firstly, there is the problem of auxiliary information (Azencott 2018). It is easy to predict if the genetic profile is easily available (Schadt et al. 2012). According to separate studies by Gymrek et. al. and Claes et al., names of patients could be identified (Gymrek et al. 2013), and facial features could be recognised from DNA sequences (Claes et al. 2014). Database attacks on patient data and therefore the obtaining of such information is a worry – any adversary could cross-reference information in order to collect data about any individual’s genetic profile. (Azencott 2018)
Genomic profiles also serve as ultimate identifiers. Even if the data is anonymised, your genetic profile could be easily obtained from parts of your body such as your hair or saliva. Through this, any genetic profile could be obtained and private information disclosed to unwanted parties. However, such intrusions of privacy would require access to the individual’s physical body in order to obtain a biological sample. Sequencing equipment would also be required. Despite this difficulty, however, it still remains plausible. (Azencott 2018)
Potential Consequences
The issue with a lack of informational health privacy in precision medicine would be the fact that it could lead to other social problems. When genetic profiles are created for precision medicine, there has to be policies in place to ensure the patient’s privacy. However in the absence of such policies, or sufficiently effective policies, this might result in many other social problems occurring, such as that of discrimination in insurance and employment, as has already been mentioned.
It is then, now obvious that personalised medicine could play a part in drawing finer distinctions between individuals, leading to genetic discrimination. This is especially so if informational health privacy is not respected, and there are little to no policies or systems in place to ensure this. If an individual has been found to have developed a type of disease as a result of a unique genetic mutation due to ancestry/history, insurance companies may not sell certain policies to these individuals due to the higher risks involved. (Brothers and Rothstein 2015)
Such discrimination is also prevalent in the employment and insurance sectors, where the possibility of genetic discrimination is becoming increasingly likely and prevalent. It is for this reason that the tests done for the sake of precision medicine ought to be kept private. Genetic testing provider 23andMe, which allows for testing of DNA (for genetic health risks, ancestries, and for potential disease carriers) has a clause in their disclosure agreement: :“Genetic Information that you choose to share with your physician or other health care providers may become part of your medical
record and through that route be accessible to other health care providers and/ or insurance companies in the future. Genetic Information that you share with family, friends or employ-
ers may be used against your interests. Even if you share Genetic Information that has no or limited mean- ing today, that information could have greater meaning in the future as new discoveries are made. If you are asked by an insurance company whether you have learned Genetic Information about health conditions and you do not disclose this to them, this may be considered to be fraud.” (Massie 2017)
According to The Economist, genetic testing may affect both financial and medical decisions. If an individual is more likely to contract a critical-illness, the insurer may not cover the individual (Anon 2017). If an unknown mutation is found that carries significant consequences to an individual, it may affect the individual’s ability to have life insurance or similar policies. As a result, there is an “altered eligibility” for such insurance policies as a result of this information brought about by precision medicine. (Minari et al. 2018)
Of course, the policies could consider including in the policy of anonymisation such as GINA, which on the surface, may seem to prove effective in making data anonymous for patients of precision medicine. However, this strategy and many other policies related to privacy in precision health medicine (such as HIPAA) still have much to accomplish before individuals’ informational health privacies are truly secure. For example, in MedSeq Project, patients were educated on GINA after a randomised trial where researchers tracked the outcomes (both patient and physician) and results of genome-sequencing which were electronically stored in medical records. However, despite the education, a quarter of the potential participants refused to participate, for fear of discrimination in insurance and employment, amongst other reasons (Vassy et. al. 2014). The study suggests that it is a possibility that this project reflected the effectiveness of GINA. (Green RC et al. 2016) This could be because policies such as GINA have exceptions to their rules. For example, one exception allows employers to gain an employee’s genetic information if they claim it to be part of their health services or wellness programs (Massie 2017).
Conclusion
The points that I have brought up in this paper show that privacy is no doubt a concern for precision medicine. This is due to, as mentioned previously, the fact that precision medicine encourages genetic profiling. While this indirect link, may, as a result, not seem to present itself as directly a strong case for the negative social consequences of precision medicine, it does present an aspect of the negative consequences created by precision health medicine, even if secondary. It should therefore still be paid attention to.
In addition, these matters are crucial and ought to be looked at – the lack of policy coverage, as well as the ineffectiveness of the policies that suggests that there is still much to be done for that of patient privacy (informational health privacy). Furthermore, the fact that it leads to different other problems such as discrimination in a variety of manners only further pushes the need for the relevant authorities to take a look at the need for better informational health privacy in precision medicine.