The human genome: ten years later
The first sequencing of the human genome was a triumphant event in 2000, promising in terms of expanding and detailing our knowledge in the fields of human biology, medicine and evolution. A special issue of the journal Nature The Human Genome at Ten, published on March 31, discusses the results obtained during the first "post-genomic" decade and assesses the scientific significance of the sequencing results.
In the introductory article, the editors note that the hopes originally pinned on genome sequencing as the beginning of a new era in molecular medicine, which implied the creation of effective methods for the prevention, diagnosis and treatment of many diseases, have so far been only partially justified.
In the article Life is complicated, Erika Hayden summarizes the development of biological science: the more detailed biologists study life, the more complicated the established paradigms become. Contrary to expectations, the genome turned out to be not a simple program of a human being, but a much more complex object, and its sequencing brought more questions than answers, complicating biology by orders of magnitude. The very concept of the "gene" turned out to be much more complex than it was commonly believed. In his article, the author tries to answer the question: is it possible to find ways to simplify the biological picture of the world?
In the article The human race (race is both a "race" and a "race"), Alison Abbott interviews the participants of the "sequencing race", highlighting the difficulties they had to face then and the projects they are engaged in now. The editorial board of the issue is interested not only in the opinion of the direct executors of the genome sequencing project expressed in Abbott's article, but also in the opinion of all scientists interested in this problem. Interested researchers can take part in an online survey on the topic "What did the human genome mean to you?". The survey results will be used as materials for an article on the assessment of the importance of human genome sequencing for the scientific community and for modern research, which will be published in one of the next issues of Nature.
The success of the human genome sequencing project inspired scientists to launch other similar projects, such as the International HapMap Project, focused on those parts of the genome that most often differ between individuals, and the Encyclopedia of DNA Elements (ENCODE), aimed at identifying functional elements in the human genome. The rapid development of sequencing technologies and their concomitant cheapening has led to the accumulation of genetic data, including more than two dozen published and about 200 unpublished genomes of people described in the note The sequence explosion (its main content is a complex but visual graph, see for yourself).
For the majority of the intellectual community, the question of the benefits of genome sequencing for medicine has not been fully clarified. Francis Collins, head of the Human Genome Project– a public international genome sequencing project, and Craig Venter, founder of the private Celera Genomics project, unequivocally answered this question: "not really." Undoubtedly, there is some progress in the direction of clinical practice – genome sequencing has allowed the development of drugs for certain types of cancer and drugs used for some rare hereditary diseases. But in general, the complexity of postgenomic biology has not justified the hopes for the possibility of rapid development of treatment tactics for various human diseases. Associative genome studies aimed at identifying genetic variants characteristic of common diseases have so far been crowned with only partial success. The establishment of the fact that most oncological diseases arise on the basis of unique genetic changes also does not allow the development of treatment methods at the level that scientists hoped for when launching genome sequencing projects. The opinions of Collins and Venter can be found in detail in the articles Has the revolution arrived? and Multiple personal genomes await.
Two scientists express opposing points of view about the approach to cancer research at the genomic level. Robert Weinberg justifies in his article Point: Hypotheses first the opinion that trial and error in genomic cancer research is unproductive. And Todd Golub, on the contrary, believes that large-scale genome research can lead to the development of new directions in cancer therapy. His opinion can be found in the article Counterpoint: Data first.
Large biotech companies such as Celera, Decode Genetics in Reykjavik, and Human Genome Sciences in Rockville, Maryland, had to rethink the idea that commercial use of people's personal genetic information could generate revenue. Muin Khoury, James Evans and Wylie Burke discuss the pros and cons of using personal genetic information in clinical practice in their review A reality check for personalized medicine on Hamid Bolouri's book "Personal Genomics and Personalized Medicine".
The accumulation of genetic information has led to the following problem: it has become unclear what function the detected genetic elements perform? The authors of the article Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes tried to partially solve this problem by systematically suppressing the expression of each of the 21,000 coding human genes with subsequent visualization using a microscope of changes occurring in cells.
The competition of research groups in genome sequencing demonstrated the high competence of scientists and their huge opportunities in cooperation and the speed of obtaining results. According to the editors of the issue, the success of the Human Genome project has strengthened the opinion in society that everything is subject to science. Over the past decade since the first sequencing of the human genome, technological capabilities and the amount of available information have increased many times. The editors hope that the next decade will be marked by the creation of no less stunning techniques aimed at preserving human health.
Daria Chervyakova
Portal "Eternal Youth" based on Nature materials: The human genome at ten06.04.2010