© Borgis - New Medicine 4/2011, s. 130-137
*Halina Osińska1, *Leo Barić2
Personalized medicine. Vision and Reality
1Chairman of the Board of Polish Society of Health Education
2Consultant, Retired Professor University of Manchester and University of Salford
The decoding of the DNA sequence and interpreting the causal association between the genetic profile and health threats, sensitivities and future disease, represents a break in the traditional understanding of the health issues and of preventive and curative approaches. It is a paradigm shift which will take us into new areas of knowledge, understanding and interpretations concerning health matters. It is obvious that it will have considerable effect on the way we approach treatment of a holistic patient with a health problem and not just a health problem.
The article addresses the issue of the macro and micro approach to the introduction of personalized medicine and illustrates some benefits of each. It also makes suggestions about how to provide resources for financing this change and makes a case for the savings to come from returning the management of health care as a servicing industry into the hands of the doctors and nurses who know what it is all about to meet the needs of a patient
The initiative in Faroe Islands based on genetic screening of the whole population as the precondition for the introduction of ‘personalized medicine’ will provide the basis for implementation of this new approach. The case study in Warsaw, providing the medical staff with additional social skills to fulfil their new role will provide a tested curriculum as a complementary aspect of the introduction of personalized medicine.
On the 30.9.2011 Mark Henderson, Times Science Editor, wrote:
Islanders lead world with DNA test for entire population
The Faroe Islands will become the first country in the World to read the entire DNA code of every willing citizen in an initiative that could lead to a new era of personalized medicine internationally.
All 50.000 of the islands inhabitants are to be invites to have their genomes sequenced and linked to their medical records, to tailor health care to individuals’ DNA and build a resource for research.
The ambitious FarGen project will examine how doctors can use individual patients’ DNA to select the best therapy and to predict and reduce their risk of developing certain diseases.
It will also explore the social challenges of mass genome sequencing. These include the logistics of collecting, storing and interpreting DNA data from a whole population, the consequences for privacy and insurance, the ethics of sequencing children, and confidential access for medical research.
Bogi Eliasen, the program manager of the Faroes’ Department of health is in charge and he said that Faroes’ small population make it ideal to pioneer comprehensive genomic health care and study its social implications. The movement is accompanied by school lectures on genomics so that people would understand what it means, its benefits and its risks.
From the above article it seems that the introduction of ‘personalized medicine’ is taking place. It has two aspects, the changes in the provision of services and the professional treatment of the patients. The isolated population of Faroe Islands will serve as an excellent research material for testing the implications of the introduction of ‘personalized medicine’ into the health care system and will indicate the additional knowledge and skills needed for the medical personnel to meet the new demands. These demands are the subject of the case study in progress at present in Poland, which is studying the introduction of embedded HE/HP, as a way to provide this additional knowledge and skills to the health care professionals to meet the patients’ demands.
To meet these challenges and to carry out a prospective impact assessment of the implementation of the new ‘Barić/Osinska Model 2010’ of embedded HE/HP, an initiative is taking place in Poland, where the Polish Society for Health Promotion is sponsoring a research project to be carried out at the Hospital Brudnowski of the Warsaw Medical University in the Department of Internal Disease and Diabetes, under the Director Professor Dr Jan Taton. The embedded health education and health promotion (HE/HP) represented as ‘Barić/Osinska Model 2010’ is aimed to meet these new demands and represents a new approach for the medical profession to help people improve health, manage disease and cope with their consequences within the new ‘personalized medicine’ (1).
In this way, the present studies will cover the both aspects of the introduction of personalized medicine, which are the structural/functional adjustment of the health care system and the additional knowledge and skills of the health personnel (2, 3).
Before we describe the two aspects of this adjustment it will be necessary to clarify this new concept (see diagram):
It is true that on the patient level, medicine has always been personal in the form of doctor/nurse-patient interaction. The new concept of personalized medicine is, however, reflecting the paradigm shift due to the decoding of the human genome, with all its consequences for prevention and treatment of disease. The new concept of ‘personalized medicine’ means a new tailor made treatment of an individual including the new approaches to establishing the way the treatment is planned and carried out. It also means a change in the prevention by introducing genetic screening as a way of defining personal as compared to the population risk. All this will influence the interaction between the doctor/nurse and the patient. This is a direct consequence of the new developments in genetics. After the initial decoding of the human genome, the understanding of its meaning for humans and their health has been rapidly developing. One of these developments within preventive medicine, relevant to HE/HP has been genetic screening. This aspect of genetics has made great advancements and at present there are a number of tests available for different diseases and/or health threats as well as for other purposes such as in crime detection, in assessing parenthood, in assessing risk from certain future health threats and diseases etc. The screening process provides information about genetic associations with certain disease as well as certain risk factors leading to a potential disease or genetic condition (3).
In summary, the introduction of personalized medicine will require the genetic screening of patients by the health care institutions for the purpose of providing “tailor-made” treatment and information about potential risks from diseases for individuals, as well as providing the health care personnel with additional knowledge and skills to meet these new patients’ demands.
Introduction (4, 5)
The genetic profiling based on sequencing individual DNA is starting to be accepted as the basis for a personalized health care. This is especially true for curative medicine, which in the past depended on medicines which used epidemiological methods to study the distribution of a health threat in a population, find out appropriate medicines by laboratory research, animal studies and eventually selected population studies for a disease (say cancer) and in the hope that the wide application of such a treatment on a cancer population will show a certain improvement for at least some of the patients. Such population studies also raised the question of predicting outcomes on a personal level. Current health care approach has been extremely expensive (using 10-17% of GDP in western countries) and very inefficient, where the Adverse Drug Reactions constitute the 4th leading cause of death because of population based studies which produced “one size fits all” treatments.
The curative aspect of personalized medicine is based on targeted therapy for each individual patient. This will be possible if the research aims to develop drugs appropriate for specific molecular and genetic targets in subsets of patients with similar genetic profile. These specific drugs will have a dramatic effect on such subsets of patients compared with more generalized drugs which produce only minimal improvement in a larger population group.
A great step in the introduction of personalized medicine has been described by Mark Henderson, science editor of The Times (9.11.2011) with the introduction of a genetic test known as Snapshot at Massachusetts General Hospital (MGH) in Boston which has been shown to be sufficiently fast and accurate to guide treatment choices in lung cancer. The procedure analyses tumours for genetic defects to help doctors to select most effective treatment. It looks for more than 50 mutations in 14 cancer genes. A similar test is to be introduced to Britain on a pilot basis by charity Cancer Research UK. The latest genetic research findings however show not only that several genes can be associated with one disease, but that one gene can be responsible for a number of diseases (The Times, 12.11.2011). The study by the University of Edinburgh found that genes responsible for Crohn’s disease are linked with other conditions such as breast and prostate cancer, Hodgkin’s lymphoma, high cholesterol and obesity. The same has been found for people carrying particular genes responsible for heart disease, Parkinson’s disease and some cancers who could be at risk from developing other health problems. This is an important insight into the genetic background of developing medicines and shows the complexity of this newly discovered area of medicine (6).
Knowing a DNA profile may greatly improve the effectiveness of treatment and response to drugs for each individual patient. Since, however such treatments can be very expensive, the ethical question of prescribing will be accompanied by economic and political decisions.
Within preventive medicine the establishment of links between genes and disease has had an uneven development and in some areas (according to the popularity of the health threat such as cancer) it has been rapid whereas in others the pace is more modest. Scientists have discovered hundreds of genetic variants associated with different diseases. This has been accompanied by rapid reduction in the cost of tests from 2 billion for sequencing the human genome to ?1000 for a personal DNA profile within the next 5 years, whereas a partial genetic test as for proving paternity is being advertised for ?100. Most recently, however (Henderson in The Times 15.10.11 writes) that the Newcastle-based company QuantuMDx has already built a prototype of a hand-held device that can read a patient’s DNA in 20 minutes for as little as ?10 per test, which is being tested in Africa for HIV before it is ready for the Western health care systems. This will make it affordable not only for hospitals but also for general practices and pharmacies.
These developments have had a considerable impact on the ways the prevention of disease is being carried out. One example is the prevention of breast cancer. Years ago the way to prevent the negative effects of the disease, although not to prevent cancer, has been the early discovery of first signs of the disease. The available method was ‘breast self-examination’, where the women regularly examined their breasts, and when discovering a ‘lump’ were supposed to seek medical help. The method was not very efficient because of a high level of false positives, resulting in unnecessary invasive treatment. The great improvement of this idea of early detection was the introduction of mammography or breast examination by professionals to discover early abnormalities. Wide spread application of the test resulted in the discovery of increased number of abnormalities only some of which have been malignant with still a high number of false positives. At present in UK an official inquiry into this method is in progress because of high numbers of false positives and unnecessary mutilations of women. At the same time a number of elderly groups of women are being offered genetic screening, which should increase the percentage of malignant growths as well as indicate the best way of their individual treatment.
Another example is the improvement in genetic testing, such as in the detection of Dawn’s babies. The present invasive tests for Dawn’s can cause miscarriage (in 1/100 or 1/200 cases) and consisting of amniocentesis or chronic villius sampling where a needle is inserted into the womb to collect amniotic fluid or a piece of placenta for genetic testing. The new non-invasive pre-natal diagnosis (NIPD) is a blood test which isolates high risk groups and reduces risk of miscarriage and is now being offered in US and will soon be offered in UK. It consists of giving pregnant women a “nuchal translucency test” which measures the thickness of foetus’s neck, which is thicker in Dawn’s babies. It is performed between 11 and 14 weeks and the results are analysed using mother’s age and possibly blood tests. At-risk women are then offered the NIPD to look at DNA from the foetus, which if having three copies of chromosome 21 instead of two indicates positive risk. The selected group of high risk women (because of low levels of false positives) will be offered further testing using chronic villus sampling before 15 weeks or amniocentesis if later, especially if they are considering an abortion. In this way the Dawn’s risk is confirmed usually in 14-17 weeks and gives parents more time to decide on the next step or prepare to live with a Dawn’ baby.
One can assume that in not so distant future most of people having access to a developed health care system will have access to genetic screening and will make use of it. This may happen because a person is curious or prudent in managing his/hers health problems or as a part of regular medical treatment. It could also be the result of coercion associated with job applications, insurance policies or other social pressures. If such screening occurs at birth, the medical profession could be faced, for example, not only with the problem that the child is the carrier of a genetic mutation associated with cystic fibrosis but also with a mutation which is associated with the risk of addiction to alcohol as compared to habitual social drinking. In this way the medical profession will not only have to deal with potential disease but also with potential behavioural risks for each person.
This raises the problems for medical education, which not only will require inclusion of a greater knowledge of genetics and all its consequences for health and health care delivery, but also embedded HE/HP knowledge and skills as one way for helping patients to cope with this increase in information and its consequences. This issue is dealt with in the next section of this paper (6-21).
The implementation of personalized medicine (22, 23)
The introduction of personalized medicine, represents a big step in social innovation, and will require a sensitive approach based on prospective impact assessment of each phase and each area of change. This process can be divided into three phases, the macro-micro approach, the issue of financing the change, and on the patient level the training of the personnel to meet the new demands (see diagram):
Phase 1: Macro and micro changes (24)
The introduction of personalized medicine can be carried out on two levels (see diagram):
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