On November 18-19, 2021, the II All-Russian Media Conference "Bioethics and Genetics: Challenges of the XXI Century" was held in Moscow

On November 18-19, 2021, the II All-Russian Media Conference "Bioethics and Genetics: Challenges of the XXI Century" was held in Moscow. With a report at the section “Neonatal screening. Genetic testing "was made by the director of the “Genome of Life” Charitable Foundation Olga Groznova. Based on the results of her speech, she talks with the press secretary of the Academician Yu.E. Veltischev Research Clinical Institute of Pediatrics by Senina Olesya Nikolaevna.

How to make the advanced achievements of science available to everyone? The director of the foundation, Dr Med Sci, chief researcher of the Academician Yu.E. Veltischev Research Clinical Institute of Pediatrics Olga Sergeevna Groznova, spoke about how the “Genome of Life” charitable foundation helps to apply the latest achievements of modern genetics in examining patients with hereditary diseases.

— Our foundation is still young, it has been functioning for one year, its activity is devoted to a very urgent problem - genetic confirmation of the diagnosis of a hereditary disease by molecular genetic methods. The urgency of the problem is evidenced by the high prevalence of hereditary diseases - up to 5-6% of the population suffer from them. The demand for the fund's services is evidenced by the fact that the fund's appeal is very high: to date, more than 1,300 people from 80 regions of the Russian Federation have received applications.

"After such a complex of studies (genome-wide sequencing and Sanger validation), the doctor can be sure that he has not overlooked anything?"

— There is a whole range of genetic methods that can confirm the diagnosis of a hereditary disease, they all provide a different amount of information about the human genome and have different costs.

The simplest and fastest research is gene panels. They are very diverse, have been widely used since the end of the 20th century and can be targeted only at specific genes, or at their most vulnerable areas. This method allows you to identify the hereditary causes of the disease in about half of the cases, or a little more. However, the method often does not confirm the diagnosis of a hereditary disease. In such cases, more extensive research is required.

Our knowledge of genetics is constantly growing. It turned out that the cause of the disease can be both in the mutation of one gene, and in the defeat of several genes or in the violation of their interaction. The focus of interest in genetic research is gradually shifting from the study of genes to the study of the genome as a whole. While the sequencing of the first genome took several years, now the sequencing process takes several days. Studying the genome as a whole provides a much broader view of human genetic problems and perspectives than studying individual genes. It is our foundation that finances genome-wide research. After its completion, validation (confirmation) of the results is necessarily carried out using Sanger sequencing, which is the "gold standard" of genetic research.

After such a complex of studies, the doctor can be sure that he has not lost sight of anything from the human DNA sequence. In addition, information about the decoded genome remains relevant throughout the patient's life, and modern scientific research opens up more and more possibilities for its bioinformatic interpretation. Modern laboratories are constantly making changes to their bioinformatics programs (programs for processing genetic data), because additional information constantly appears - scientists are discovering more and more new genes and features of their interaction. There are publications on the functions of previously unknown genes, which contributes to the description of new monogenic diseases.

The foundation has other tasks as well. We also strive to contribute to the development of the science of genome, reproductive genetics and hereditary diseases, we fund the corresponding research.

"Whom does the fund help?"

— We conduct research for all citizens of the Russian Federation with suspected hereditary diseases, as well as their relatives of the 1st and 2nd degree of relationship, married couples planning pregnancy (if they have relatives in their families with hereditary diseases). To conduct research at the expense of the fund, a doctor's opinion on suspicion of a hereditary disease and a recommendation for conducting a genome-wide study is required.

By helping couples who are planning a pregnancy and have relatives with hereditary diseases, we are funding a study of their genomes to determine if they have genetic defects that could put this particular couple at risk of having a baby with a hereditary disorder.

 "Is it possible to make the practice of advance genome research commonplace?"

— In the event that two people do not have any suspicions of any specific hereditary disease, it is also possible to determine their genetic prospects in relation to childbirth using a genome study. Now this is not included in the program of our foundation, but we would like to be able to examine all interested couples planning a pregnancy. Sometimes our research shows that two people have already miraculously escaped the birth of a child with a severe hereditary disease one or more times. It is quite possible to make the practice of an early genome study routine, and this is already being discussed in the scientific community. However, this gives rise to many ethical dilemmas that are absolutely insoluble at the moment.

Imagine that you are doing a genome study of a newborn child and find out that he has a high probability of developing early mental retardation - at the age of 45, his psyche will already begin to disintegrate. And there is no effective treatment at the moment. Would the child's parents want to know about this? And he? This knowledge will hang over him with the "sword of Damocles" all his life.

Also, with the help of a genome study, a predisposition to a hereditary disease can be identified, which can be cured if detected at an early stage of development. But then we are faced with another problem. For example, spinal muscular atrophy is a disease that can be cured in the first year of life with a single injection, which costs 150 million rubles. Someone will consider it right to prevent the birth of children with such diseases, others will disagree. Disagreements will inevitably arise in society. Who will pay for the treatment: will the state have enough money? Will such treatment increase taxpayer taxes and to what extent? Do they agree to this? Who should decide this at all?

There are a lot of similar questions, we discussed them at the All-Russian multimedia conference “Bioethics and Genetics: Challenges of the XXI century”. Genetic technologies are developing very quickly: it seems to me, that faster than the society in which we live is ready to accept them.

"How to help the fund?"

— Today the role of charitable foundations both in the work of medical institutions and in the life of citizens is invaluable. Advances in science and technology are usually very costly and time consuming. The majority of Russian citizens in need of help have the opportunity to get free access to modern methods of diagnosis and treatment of diseases thanks to the help of charitable foundations.

You can instantly help the fund through our website fondgenom.ru using any payment system. We are helped both by donations from large organizations that are involved in charity, and from individuals. Each of us, by making a one-time donation, which is very easy to pass through our site now, can help children with hereditary diseases. We also provide for the possibility of registration, albeit a small, but regular donation. This opportunity will soon appear on our website. We are grateful to everyone who will respond to our call!