Voluntarily-forcibly

What kind of impetus can state programs give to the DNA testing market?

Artem Elmuratov, Forbes, 22.05.2017

In many countries, the authorities have launched mass genetic screening projects, these initiatives are already improving the situation with hereditary diseases. What are the prospects for such scenarios for Russia? The media somehow ignored the news that a law is being discussed in full in the US Congress that will allow employers to require applicants (as well as current employees) to undergo a genetic examination. Refusal will be punished with a fine of thousands of dollars. This legislative initiative has already been approved by the relevant Committee on Education and the Workforce of the US Congress. Republicans are unanimously in favor (they now have a majority in Congress), Democrats are unanimously against.

We should immediately note that the new law being discussed in the United States does not repeal the current Act on the Prohibition of Discrimination Related to Genetic Information (Genetic Information Nondiscrimination Act, or GINA). This document, in force since 2008, is designed to protect US residents from the use of genetic information for discrimination by employers and insurance companies.

What does such an initiative mean for the mass genetic testing industry (Global Industry Analysts estimate that by 2020 the market volume of such services will pass the $7.4 billion mark)? And what can be the role of the state in the development of genetic diagnostics markets in different countries?

DNA decoding technologies are becoming cheaper and more accurate at the same time. Today, when almost 15 years have passed since the completion of the Human Genome project, decoding the complete human genome can cost a million times cheaper than then. Reading only important coding sections is already available to a really wide range of people.

Now many applications of genetic testing are clear: from identification of a person and search for relatives, to disease prevention and selection of optimal therapy. However, the main opportunities are concentrated in the field of genetic diagnosis of diseases. According to forecasts of American analysts, the potential market for genetic research to identify possible oncological pathologies is $ 11 billion, and, for example, for genetic methods of mass examination of newborns (neonatal screening), is $ 1 billion. Tests for the status of the carrier of hereditary diseases form a market of about $ 2 billion.

The state's participation in the development of the mass genetic screening market is not limited only to the permission for such diagnostics. There are already several examples of state programs in the world that promote the increasingly widespread use of genetic tests. Of course, not only individuals benefit from such initiatives (in some cases they get the opportunity to take the test at the expense of the state), but also companies that develop genetic technologies.

Mainly such programs are implemented to combat hereditary diseases.

One of the most striking examples is Iceland. Thanks to the massive genetic screening of the population at the expense of the state, Iceland has become a huge "genetic laboratory. The deCODE company, which has been engaged in research for about 18 years, by 2015 had deciphered the DNA of more than 2,600 Icelanders, studied in detail the genotype of more than 100,000 inhabitants (the total population of the country is about 320,000 people).

Why was it important? The fact is that due to the tangible geographical isolation of Iceland, most of the inhabitants of the country are relatively close relatives to each other. Therefore, mutations accumulate in the population, leading to specific diseases. It was necessary to determine what Icelanders should be afraid of.

After all, such genetic diseases can be successfully combated, the experience of many closed populations proves this. But it is often possible to determine the presence of the disease only with the help of a genetic test to determine the status of the carrier (it does not appear externally). As you remember, each of us has 23 pairs of chromosomes, each of them has one chromosome from mom, one from dad. Diseases can be transmitted by an autosomal recessive type, that is, they do not manifest in humans, a pathogenic mutation makes itself "known" only when two chromosomes "meet" (if both parents are carriers of the disease gene).

Ashkenazi communities, for example, around the world were able to almost completely defeat the "Jewish" Tay-Sachs disease (due to a genetic mutation, brain cells are damaged, which causes gangliosides (fat breakdown products) to accumulate in the body, which leads to impaired motor skills and mental retardation, muscle atrophy, vision loss, paralysis, and then – usually at the age of children in 3-4 years – to death). The fight against the disease began in the 1970s. Now almost all newlyweds are advised to take a test to determine the carrier, and prenatal testing is also carried out (to determine whether the child has inherited the disease, even at the stage of pregnancy). As a result, the incidence of the disease among some Jewish communities decreased by more than 10 times.

Iran has radically approached the issue of combating the frequent and severe disease beta-thalassemia. Screening for the carrier of this disease is mandatory for newlyweds. There are similar programs in Saudi Arabia.

Kuwait has had mandatory screening for several genetic diseases for couples getting married for several years. However, in 2015, the country's authorities adopted a law obliging not only newlyweds, but in general all citizens of the country (as well as its visitors) to undergo a mandatory DNA test. But not for the purposes of preventive and personalized medicine, genetic diagnostics has become a way to identify individuals and fight terrorism. The initiative was received very ambiguously and received negative reviews by many politicians and human rights defenders of the country. For refusing to pass the test, residents of Kuwait and tourists receive severe penalties. For example, parents who refused to conduct a DNA test for their child had to go to prison. I must say that in 2016, the authorities relaxed the requirements: DNA identification should now be carried out only by suspects.

Ideas to introduce mandatory DNA identification for people who have violated the law sometimes arise in our country.

As we can see, the United States was by no means the only one in the implementation of state projects on genetic diagnostics. But the United States is definitely one of the leading countries in this area. In 2015, Barack Obama launched the Precision Medicine Initiative program, aimed at developing precision medicine using genomic technologies. And in early April, the American regulator, the FDA (Food and Drug Administration), allowed the well-known company 23andme to give its users information about their genetic predispositions to several diseases without the participation of a doctor. Obviously, the initiative of "corporate" genetic tests will also give an impetus to the market.

And what about Russia? We have biochemical prenatal screening (during pregnancy) and neonatal screening for five hereditary diseases for infants. Now the number of congenital diseases for diagnosis is planned to be expanded to 30. However, there is no genetic screening program for the prevention of hereditary diseases. People often turn to laboratories themselves if they find out about such studies. In our portfolio there is an example of working with one of the communities, many of whose representatives were screened in our laboratory for the status of a carrier of specific diseases.

Personally, I am optimistic that the HealthNet roadmap of the National Technology Initiative (the program of public-private partnership in the market of innovations for healthcare – Forbes) contains points on the development of preventive and personalized medicine using genomic technologies. It is also encouraging that personalized medicine is one of the priorities in the strategy of scientific and technological development of Russia. It remains to be hoped that the regulatory framework and comprehensive development programs for the work of genetic laboratories and, in general, the genetic screening industry for the population will soon be developed.

Portal "Eternal youth" http://vechnayamolodost.ru  22.05.2017