03 June 2015

The project "100 thousand genomes" continues to work

Treatment based on DNA analysis – where did it become a reality?

Weekly Pharmacy www.apteka.ua based on the materials of the University of Oxford:
Project brings Whole Genome Sequencing into the clinic

10 years after the completion of the Human genome decoding (sequencing) project (The Human Genome Project), scientists have come close to transferring this technology to clinical use. For 3.5 million patients with rare diseases living in the UK, it can significantly improve the possibilities of diagnosis and treatment.

This can be realized thanks to the joint work of scientists from the University of Oxford and the company engaged in DNA decoding – "Illumina".

The results of the study are published in the journal "Nature Genetics" (Taylor et al., Factors influencing success of clinical genome sequencing across a broad spectrum of disorders). According to them, the use of the DNA decoding method makes it possible to identify genetic disorders in 60% of cases, which is significantly more than using standard genetic diagnostic methods.

The success of this study has a significant impact on the UK healthcare system. The government has announced its intention to decode 100,000 genomes of patients within the framework of the Genomics England program. The United States and some other countries have also expressed a desire to implement similar projects.

The main purpose of this study was to analyze whether it is possible to apply genome decoding methods in routine practice. In particular, attention was focused on whether healthcare professionals of various profiles will be able to effectively use genetic analysis data in intensive hospital work.

When using this method, 20 thousand genes of patients are analyzed almost simultaneously. This will replace the currently used technology, which is based on the search for consistent changes in the genetic material of patients, which is a very long procedure that takes several months, which also often gives a false result.

Up to now, the human genome decoding project has revealed more than 10 new genes mediating the development of the disease. These include hereditary oncological pathologies, blood diseases, disorders in the development of muscle tissue and others. The data obtained will help to study the mechanisms of development of these diseases and create effective targeted therapies for thousands of patients.

Globally, more than 3 thousand patients have been tested for the presence of genetic mutations. Based on the data obtained, the most effective treatment methods are selected for them. For example, in patients with congenital forms of anemia, an accurate diagnosis allows in some cases to prescribe therapy using interferons as an alternative to transfusions.

Portal "Eternal youth" http://vechnayamolodost.ru03.06.2015

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