06 February 2015

Obama spares no money on gene diagnostics

US President Barack Obama has offered to allocate hundreds of millions of dollars
on the genetic diagnosis of patients

Genetico

According to The New York Times (Obama to Request Research Funding for Treatments Tailored to Patients’ DNA), US President Barack Obama, in his annual state of the Union address to Congress, made a proposal to allocate hundreds of millions of dollars for the development of treatment taking into account the genetic characteristics of patients. We are talking about an actively developing field of personalized medicine and the creation of individual therapy programs, when a doctor prescribes treatment based on the results of a patient's genetic diagnosis.

It is planned that the allocated funds will support biomedical research of the National Institutes of Health, as well as regulation of genetic testing by the FDA. According to lawmakers, Barack Obama's proposal may receive support from both chambers of the US Congress.

Barack Obama noted in his message that "this approach has already changed the course of the disease in some patients with cystic fibrosis."

Cystic fibrosis is a hereditary disease caused by a mutation of the CFTR gene. The patient's mucus viscosity increases, which leads to its accumulation in the respiratory, digestive and genitourinary systems. This, in turn, is fraught with severe chronic infections of the relevant organs, which is why many patients do not live to adulthood. Until 2012, there was no etiological (acting on the cause of the disease) treatment of cystic fibrosis – only symptomatic therapy was used in such patients. In 2012, the FDA approved the first drug Kalydeco for the treatment of this disease. It is important to note that the mutation in which Kalydeco is active is the basis of only 4% of cases of cystic fibrosis. Of the 30,000 Americans suffering from the disease, the drug can help only 1,200. The drug is prescribed only after the patient has detected a special mutation of the gene – G551D-CFTR.

One of the patients taking this drug, 27-year-old medical student William Elder, was a special guest of Michelle Obama at the president's speech.

In 2006-2007, as a senator, Barack Obama proposed a bill on genomics and personalized medicine for consideration. Even then, he considered personalized medicine revolutionary. Barack Obama cited the example of the drug Herceptin for the treatment of a particularly aggressive form of breast cancer. He said that scientists consider breast cancer not as a single disease, but as a group of several subtypes of the disease, which has, among other things, a genetic nature. And he noted the fact that for effective therapy of this disease it is necessary to conduct DNA studies.

"Most medical procedures are designed for the average patient," comments Dr. Ralph Handelsman, deputy director of the White House Staff for Science and Technology Policy. In very many cases, this approach is not effective. And while new tests and procedures are often expensive, personalized medicine can save money because it focuses on working therapies. As a result, you avoid spending on treatments that are not suitable for the patient. New technologies can also help prevent the disease. If a person has a high probability of developing genetically determined colon cancer, you can start screening at an earlier age, at 30, rather than at 50."

According to Ekaterina Pomerantseva, head of the Moscow Genetico laboratory: "The president's address to the Congress in the USA sets the direction of development. It is very important that this will result in a change in the FDA's policy, the opinion of which is taken into account by doctors not only in America, but also around the world, since it is one of the most authoritative regulatory medical organizations in the world. Genetic testing in recent years has been sorely lacking assistance in the transition from a scientific laboratory to clinical implementation. One of the reasons was the doubts of the regulatory authorities that "it's worth paying for." And if the opinion of the FDA is that yes, it is worth it, then this direction has already received enough scientific evidence, has shown economic efficiency, and now it can be used in routine clinical practice. This will have a huge impact on the development of the industry.

In the Genetico laboratory, modern genetic diagnostic technologies are used for different groups of patients, including those described by The New York Times. Genetico makes an extended diagnosis of mutations leading to hereditary forms of cancer, screening of newborns for hereditary diseases is carried out, which should be treated as early as possible. Screening for monogenic diseases is being done for families planning pregnancy in order to determine the risk of having a sick child. Moreover, this screening includes hundreds of mutations that are common in the population of the Russian Federation. And if such a risk is high, the Genetico family is offered to use the technology of preimplantation genetic diagnosis (PGD) so that a healthy child is born.

It is important to note that all the research conducted at Genetico lies within the framework of evidence-based medicine. The mutations that are studied there have a clear causal relationship with the development of the disease. This is far from "guessing on genes", but scientifically based and clinically proven diagnostic tools that allow patients and doctors to make crucial decisions about treatment methods."

Portal "Eternal youth" http://vechnayamolodost.ru06.02.2015

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