Genome sequencing will serve pharmaceutical companies to create new drugs
Volunteers will be allowed to take medicines
Next generation sequencing technologies have radically reduced the cost of reading the DNA nucleotide sequence and made it possible to move to the study and comparison of many human genomes.
Large-scale projects are emerging in which genomic information from a large sample of people is planned to be used for clinical purposes. Regeneron Pharmaceuticals and Geisinger Health System announced one of these projects. The first is a fast—growing biotech company focused on genomic research, the second provides treatment, and its customers are 3 million people in Pennsylvania. Regeneron is going to sequence the DNA of at least 100 thousand volunteers among Geisinger patients to find genetic variants associated with various diseases and use this as a key to the creation of new drugs. For its part, Geisinger is going to use genomic information to improve the treatment of patients.
"This is very encouraging both from a scientific and medical point of view," says Dr. Leslie Bizeker, head of the research of hereditary diseases at the National Human Genome Research Institute. "As far as I know, this is the largest clinically directed genomic study in the country at the moment."
Today, the cost of complete sequencing of the human genome is several thousand dollars. But for a clinically focused project, it's still too expensive. Therefore, first of all Regeneron will sequence the exome — the part of the genome that encodes proteins, and it makes up 1-2% of the entire DNA. Experts estimate the cost of exome sequencing at less than $1,000.
The total cost of sequencing 100 thousand genomes under the Regeneron and Geisinger project will be approximately $100 million and will take about five years. At the same time, according to the agreement between the companies, Regeneron will be prohibited from selling genomic data to other consumers.
Similar large-scale projects have been announced in some other countries. So, Britain and Saudi Arabia are going to sequence 100 thousand genomes each; the US Department of Veterans Affairs (United States Department of Veterans Affairs) plans to collect DNA from millions of veterans. Biotech giant Amgen paid $415 million to acquire deCODE Genetics, a company that received a database of genomes of 300 thousand Irish residents (partly this database was obtained by sequencing, partly by computing).
Genomic research based on the sequencing of the complete genome is the next step in the direction of personalized medicine. At the first stage, such studies focused on the study of single-nucleotide polymorphism (SNP), as a result, scientists found many genetic variations that increase or decrease the risk of various diseases, and only slightly. This concerned genetic variations that are frequent in the population.
Now that it is possible to fully sequence a large number of genomes, specialists have the opportunity to study rare genetic variations that can contribute more to diseases. "We are interested in low—frequency and high-impact genetic variation because it is one of the most influential factors in biology," says Jeffrey Gulcher, research director at NextCODE Health, a subsidiary of deCODE.
Large-scale genetic research requires a large number of individual genomes. This is exactly what clinical companies can provide. So, Geisinger has already collected 45 thousand DNA samples for this purpose. In order to protect personal genomic data, the company provides them for research anonymously. But Geisinger itself keeps strict records of which patients these samples belong to. Because their goal is to use genetic data to improve treatment.
For example, as David Ledbetter, geneticist and scientific director of Geisinger explains, if mutations are found in the DNA of patients that increase the risk of breast cancer, they will be immediately informed and measures will be proposed to prevent the development of the disease. Genetic information will also be used to select the optimal medication for this patient.
In our country, the clinical introduction of genomic research is still far away, although there are opportunities for individual genomic analysis to identify the risk of various diseases. In the following materials "Newspaper.Ru" will tell about this direction in the Russian market.
Portal "Eternal youth" http://vechnayamolodost.ru14.01.2014