Personalized Medicine Research Paper

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Personalized medicine is a popular term – meaning diagnosis and treatment adapted to a given condition and/or gene defect. Progress in biomedicine is making the analysis of an individual’s DNA increasingly faster and cheaper, which has already had a significant effect on diagnosis and treatment and will increasingly contribute to more precise diagnosis of various diseases. Some of them may be “druggable,” that is, an appropriate medicament may exist or be developed for them. In the long term, this should be cost-effective and save money spent on useless treatments; on the other hand, currently most of these treatments are expensive, not very many are available, and problems of their equitable distribution are quite obvious. Moreover, there is also the problem of resource allocation – whether the always limited funds for medical care should be invested in possible future treatment or rather used for addressing current patient needs using available drugs and therapies.


For a long time, the dream of physicians has been the magic bullet which would find its target, be specific, and not give side effects. Although initially the concept was developed by Paul Ehrlich for drugs for eliminating pathogens, currently the incredibly rapid development of techniques of sequencing and analyzing DNA has led to the vision of a completely different approach to treatment of numerous diseases – that the therapy would be perfectly adapted to the cause of the disease. There have been some – though not very many – striking examples of application, for instance, the drug ivacaftor is already used for treating a small subpopulation of cystic fibrosis patients with the G551D mutation and more recently has been combined in a trial with another drug to treat patients with the most prevalent cystic fibrosis mutation (Wainwright et al. 2015). This disease is relatively common in Europe (about 1:2500 births). Perhaps the most striking application has been the combination of diagnosis and therapy in one pair of nonidentical twins with a neurological disorder, in whom genome sequencing indicated the presence of two different mutations; the results of using the appropriate two drugs (L-DOPA and 5-hydroxytryptophan) led to great improvements in both patients (Bainbridge et al. 2011).

On the other hand, the term personalized medicine is not perhaps the most appropriate one; some authors prefer the term “precision medicine” as medicine at its best has always been to some extent personalized – from giving blood type appropriate blood transfusions to adjusting the diet of persons suffering from diseases such as phenylketonuria (Jameson and Longo 2015). The term precision medicine may also be better as the target of the treatment can be quite a large group of persons – for instance, those taking statins for hyperlipidemia, blood clotting factors for hemophilia, or a low-galactose diet for galactosemia.

There are other precise or personalized applications which have also been around for some time, mainly in the field of cancer therapy – for example, Gleevec for chronic myeloid leukemia and Herceptin for breast cancer positive for the Her-neu marker (Jameson and Longo 2015). Other important applications go under the name of pharmacogenetics or pharmacogenomics, where the precision aspect is in a way reversed – certain drugs should not be given to persons with certain diseases or certain gene mutations.

History And Development

To find a precise definition of the term personalized medicine (PM), Schleidgen et al. (2013) undertook a literature search and came up with the following: “PM seeks to improve stratification and timing of health care by utilizing biological information and biomarkers on the level of molecular disease pathways, genetics, proteomics as well as metabolomics.” This analysis also found the first mention of this term – in a paper as early as 1971; but its use only became common from the beginning of the 1990s, and by 2009 most papers no longer defined the term (Schleidgen et al. 2013). This is interesting as it indicates that the term is now generally understood by the scientific community.

Personalized medicine has also been called 4P medicine – predictive, personalized, participatory, and preventive. The preventive aspect is an interesting one, as the idea here is that the disease – or the risk for it – should be discovered early so that its onset can be prevented or delayed. This of course raises the problem of patient participation and compliance. The participatory aspect is a somewhat separate matter, as it concerns the patient’s involvement in his own treatment, which is not an inevitable consequence of personalized medicine, in the sense that it can, but does not necessarily have to, accompany the treatment specifically suited to the disease and patient. Moreover, there seems to be an overestimation in the literature of how a precise diagnosis may or should affect the way the patient behaves in respect to his disease. As obesity and lifestyle diseases are on the rise, it is clear that knowledge of risks and benefits does not necessarily affect the behavior of people who have been informed of the consequences of their actions. There are various possibilities of influencing the way people behave when they learn that they can take steps to avoid or alleviate a disease, but they do not seem to work very well for lifestyle diseases. It is not yet clear whether diagnosing a similar risk in a more personal and molecular way (say by detecting polymorphisms in the DNA which could contribute to circulatory problems) would lead to better patient compliance.

Gene therapy is also a form of precision medicine, as the genetic defect is removed by introduction of a functional gene; this is described in a separate entry. The first medicament based on gene therapy, Glybera, for treating lipoprotein lipase deficiency was approved for the European market in 2012; its price – about one million euro – is a clear indication that precision medicine comes with a cost that cannot be easily borne by many health-care systems or the patients themselves.

There is a more general problem with personalized medicine, as the interest in genes has shifted the focus away from an extremely important component of preventing diseases as well as understanding their causes – environmental effects, a very broad area including pollution, stress, diet, and many other factors.

Ethical Dimensions

The possibilities of precision medicine are enormous, and the ethical challenges which it raises are quite numerous and not always easy to address.

Most of them are not really new, as the growth of increasingly specific DNA-based diagnostics and the problem of analyzing and safe storage of information about patients have been here for quite some time. Moreover, some of the considerations found in papers on personalized medicine (Gefenas et al. 2011) are also not really due to the concept of personalized medicine but to the development of medical diagnostics in general. The problem of patient responsibility for complying with medical recommendations was already mentioned, and the questions of the ethics of gene testing have been discussed without referring to personalized medicine previously – such problems as respect for private life, the wish to be informed or not informed, whether the results of a genetic test belong to a person or should be shared with members of his or her family, who may also be at risk for a disease (Gefenas et al. 2011). Most of these problems are discussed when professionals are trained as genetic counselors, and there is nothing very new here as these problems have been discussed since molecular diagnosis became more common, but they will become more complex as in the future – at least in richer countries – recommendations and/or treatment may become based on analysis of a patient’s whole genome. Though progress in sequencing has been remarkable, understanding what every nucleotide means and which ones are really significant for future or current health has advanced much more slowly. It is not currently clear when health recommendations based on whole genome sequencing may become more common; currently, this type of sequencing is used in some institutions, for example, for the diagnosis of neurological diseases in pediatric patients with a success rate of about 20 %. This of course brings the problem of findings which are not directly related to the disease whose molecular basis is sought. The problem of these incidental or secondary findings has been addressed by scientific genetic societies, and there is a general belief that informed consent may need to be in a tiered form – specifying what kind of information should be released to the patient, based on his choice before the test is performed. Additional problems will need to be addressed in the case of minors, but the general rule that children should not be analyzed for incurable diseases which occur in adults should still apply.

The fundamental problem of personalized medicine is economic – the issue of equitable benefit sharing is one which has been addressed by many documents and will not be discussed in detail here, but there has always been a gap between richer and poorer countries, and the more expensive a technology the less likely it is that poorer populations will benefit from it. The costs of sequencing are decreasing dramatically; however, even though in the long term specific drugs may save money, currently the outlay for sequencing and drug development is nothing if not very large. Personalized medicine has added a new dimension and tough choices for physicians and health-care providers to face in allocating resources, as currently if something is expensive and potentially lifesaving, it is not available for everyone.

Chadwick (2013) and Vogenberg et al. (2010) have indicated another risk that personalized medicine could be responsible for – if stratification or personalization would coincide with divisions which are already in place – whether ethnic, racial, or other, this could also lead to an increase in divisions within a population. As an example, isosorbide dinitrate has already been sold as a “race-based drug” for African-Americans with congestive heart failure, without any real scientific basis (Vogenberg et al. 2010). There are of course certain diseases which occur more commonly in some ethnic populations – but this requires careful testing to ensure that a population which is not necessarily homogeneous can really benefit from a targeted drug.

Rose (2013) has rightly pointed out that progress in medicine has been almost exclusively due to a completely different trend than personalization, namely, “interventions that have been addressed to all – clean air, water, effective sewage systems, pure food, programs of population wide vaccination” (p. 342). This is, however, not completely true. Some personalized approaches, such as screening newborns for treatable diseases, such as phenylketonuria, have already made an immeasurable contribution to the health and wellbeing of many people. Some forms of cancer treatment, such as Herceptin, in spite of their costs have saved many lives and are continuing to do so; it is, however, very difficult to believe that an equitable access to the highest possible standard of care will be easily available for all.

It is very speculative to discuss to what extent PM could benefit all – the cost/benefit ratio is something which can only be analyzed for a number of diseases, and in many cases the cost is very high. The benefits to individual patients may be long term (as for the gene therapy by Glybera or for cystic fibrosis therapy by ivacaftor) or shorter (as is the case for targeted cancer treatments, in which resistance develops in many cases after a shorter or longer period of time). In most cases, the group which can benefit is a small one – the disease for which Glybera is used is an extremely rare one (one person per million), and in the case of ivacaftor about 1 person in 2500 among Caucasians has cystic fibrosis, and only a few percent can benefit from this particular drug.

Thus, currently the target group is not large, and there are not that many drugs which are already used, but already there may be problems – only a small percentage of lung cancer patients can benefit from a currently available targeted drug, and for patients who would not benefit from this particular treatment, there are no equivalent alternatives.

The main problem again is an economic one – can one million euro be refunded by any medical care system for the one patient per million who can benefit from Glybera when this amount of money could be used for drugs for more common diseases which are much cheaper to treat.


We are living in a period of incredible development of the biomedical sciences. Precise diagnosis of many diseases is now possible and, for increasing numbers of them treatment, either by appropriate drugs or drug combinations or (in some cases) by gene therapy, is becoming available. The concept of personalized – or precision medicine – in which each patient had his needs addressed by a specific, adapted treatment is a wonderful idea, and in richer countries more and more people are benefiting from this. However, this is still in its infancy, although some effects of personalized medicine – such as saving people from the profound effects of phenylketonuria on the central nervous system by early detection and an appropriate diet and other achievements of screening newborns – should be remembered as a real effect of a targeted strategy for a large number of people. It is not clear how and whether these new and expensive treatments will become available to persons in poorer countries. The fundamental ethical problem linked to this ongoing development of science is that of an equitable distribution of these advances. This is not the only one – most diseases are not due to single causes, and for most of them there is no chance of a magic bullet, though many companies are looking at multiple markers of lifestyle diseases in the hope of finding “druggable” targets.

Bibliography :

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