08 February 2010

Personalized medicine: from dreams to Reality

In the last pages of his book on personalized medicine, Francis Collins offers an exciting perspective of the future through the eyes of a fictional character born on January 1, 2000 and given the symbolic name Hope (from the English "Hope" – hope). Collins created a world in which the genomes of not only the main character, but also most other people are completely sequenced. Information about the genetic characteristics of people is integrated into special prognostic models that provide them with recommendations on nutrition, lifestyle and treatment, allowing them to optimize the quality of life and health. As a result, Hope, who celebrated her 100th birthday, continues to live a healthy and productive life.

After that, Collins describes an alternative reality, very similar to the modern world, in which an inefficient healthcare system does not yet enjoy the benefits provided by personalized medicine. In this dystopian world, doctors do not know what genomics is, and patients do not have access to reliable diagnostic tests and effective preventive protocols. Living in this world, Hope, who has a predisposition to diseases of the cardiovascular system, suddenly dies of a heart attack at the age of 50 while working in his own garden.

Despite the naive name of the character, these pages are the best part of the book "Language of Life: DNA and the Revolution in Personalized Medicine" ("Language of Life: DNA and the Revolution in Personalized Medicine"). Of great interest is also a brief description of the prospects for cell and gene therapy, also presented in the last chapter of the book, called "A Vision of the Future" ("A Vision of the Future").

In his book, Collins, the main inspirer of the Human Genome Project, currently heading the US National Institutes of Health, offers a thorough description of the current state of genomics. It describes the process of gradual integration of genetics into clinical medicine in an easy-to-understand language for an unprepared reader, primarily in dealing with rare diseases caused by serious disorders in human DNA, such as Tay-Sachs disease, Down syndrome and others.

Several chapters of the book are devoted to describing how genetics provides people with information about whether they can suffer from the side effects of a particular drug, and how genetic differences cause a predisposition to such common diseases as, for example, diabetes mellitus.

The book summarizes and updates, in accordance with the latest achievements of science, the information contained in dozens of other publications and popular science articles published over the past few years. However, apart from the last chapter, the author of the book did not bother to explain to the reader the reasons why the revolution in personalized medicine, the results of which are described in the first happy scenario for Hope, is postponed indefinitely. In this regard, a thoughtful reader may have serious questions about the information presented in the book.

Firstly, the "Language of Life" shows excessive enthusiasm for the revolution in genomics, characteristic of most popular books and media reports, which have been feeding the public with promises that have little to do with reality for years. It should be noted that the reason for the failure of promises is not a lack of effort. As Collins correctly points out, researchers have made significant strides in understanding the laws of genomics and molecular biology, while companies are expending enormous efforts to turn the continuously incoming new information about human DNA into diagnostic tests and treatment methods.

Pharmaceutical companies use advances in molecular biology to create highly selective drugs, and firms such as 23andMe and Navigenics offer consumers to purchase genetic testing kits over the Internet.

Collins notes that the development of so-called "rational" drugs (which is based on knowledge of molecular mechanisms, and not the principle of "trial and error") is an extremely difficult task, and the offer of on-line DNA tests for diabetes, heart disease and schizophrenia is a rather dubious occupation. However, he practically misses the fact that the US Food and Drug Administration (FDA) has approved only a few drugs developed according to the principles of personalized medicine, while the offer of genetic tests via the Internet did not attract the expected flow of applicants.

The situation with genetic testing became obvious last fall, when the co-founder of 23andMe, Anne Wojcicki, said at the TED MED conference in San Diego that, despite a large-scale advertising campaign and the title of "Invention of the Year" awarded in 2008 by Time magazine, within two years the company's specialists only 30,000 people had their DNA sequenced.

Such a cool reception of the public can be explained by the continuing high cost of genetic testing, which continues to slowly but surely decline. Another possible explanation is that these tests have not yet received official registration as diagnostic tools that provide reliable results. This is partly due to the fact that today few people realize the importance of DNA testing, which in their minds is associated only with rare hereditary diseases and criminology.

Unfortunately, Collins does not provide the reader with comprehensive information regarding our real situation on the way to the era of personalized medicine. In this regard, there is a second aspect that will invariably cause dissatisfaction with the sophisticated reader. The author does not describe his own experience and does not offer a possible plan, following which will allow us to narrow the huge gap separating the modern world in which genomics and personalized medicine are in the early stages of development, and the bright future of Hope described in the first version of the epilogue of the book.

Collins only gives an outline of a program aimed at advancing society towards the era of personalized medicine. He calls for an increase in research funding (which is not surprising, given his position as head of the NIH – the National Institutes of Health of the USA); to optimize the use of electronic medical records in order to collect information suitable for the development of prognostic models of morbidity; to improve the efficiency of the system in order to reduce the time required for the introduction of research developments into practice; to to pay more attention to the appropriate training of doctors and other medical personnel; and, finally, to conduct more open discussions about the bioethical aspects of innovation.

It is difficult to underestimate the easy and understandable language to the uninitiated reader, with the help of which the author once again patiently explains what a nucleotide is and how replacing G with A can cause a person's predisposition to develop, for example, colon cancer. It is clear that only the repetition of the material will help the public understand what genomics is. However, at a certain stage, people need to be provided with a realistic scenario for the development of events. Only then will they be able to assimilate the lecture and in their minds genetics will finally cease to be an abstraction and turn into reality.

The third obvious drawback of the book is that it presents genomics as the "language of life". It is very strange that this definition comes from Collins, who supports a number of programs conducted by the National Institutes of Health, the purpose of which is to integrate genomics and other factors that ensure the formation of a unique personality of a person and have a strong influence on his behavior, health status and other features.

Among these non-genomic factors affecting human life, the main role belongs to the environment, which includes everything from diet to ultraviolet radiation and exposure to toxic substances such as mercury and pesticides. Each person is born with an individual genetic "program", but for many common diseases, knowledge of this program means almost nothing. In order to benefit from this information, it is necessary to understand the principles of interaction between environmental factors and human genetic characteristics that cause susceptibility or insensitivity to them.

For some reason, in his book, Collins only casually mentions the role of the environment and other factors important for human health, including proteomics and the billions of microorganisms inhabiting his body.

In 2006, Collins wrote the book "The Language of God: A Researcher Provides Evidence for Faith" ("Language of God: A Scientist Presents Evidence for Belief"). In this book, written in the same accessible language, Collins, who is a committed Christian, analyzes and rejects the arguments of opponents of the theory of evolution and those who, for religious reasons, oppose research using embryonic stem cells. Collins states that for him personally, the concepts of "God" and "biology" do not contradict each other and that the divine principle can be observed in the functioning of each nucleotide, each cell, both differentiated and stem, used by researchers in their work.

Collins' first book caused a great resonance with the public and lasted for several weeks on the New York Times bestseller list. This is partly due to the theme of the book devoted to the eternal dispute between religion and science. However, the secret of the book's popularity also lies in the fact that the author has clearly indicated the direction in which people should move who are unable to resolve for themselves the contradiction that exists between these two important spheres of human life.

It is hoped that in the future Collins will write "The Language of Life II", in which he will adhere to the same principle: he will not limit himself to explanations and enthusiasm, but will point readers in the direction of moving forward, which will eventually lead humanity to the era of personalized medicine and a long productive life without diseases.

Evgeniya Ryabtseva
Portal "Eternal youth" http://vechnayamolodost.ru based on the materials of TechnologyReview: From Hope to Reality in Personalized Medicine.


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