Cambridge / England - The company "Genomics England" has carried out 100,000 genome analyzes on patients of the National Health Service in the last 5 years. The results are to be used for the diagnosis and treatment of diseases.
England is the birthplace of the Nobel Prize winner James Crick, the co-discoverer of DNA, and Frederick Sanger, who developed method for DNA sequencing, genome analysis positive from the start. British researchers were involved in the human genome project, and in July 2013, then Minister of Health Jeremy Hunt gave the go-ahead for the “100,000 Genomes Project”.
In order to sequence the genome of 100,000 British people, the Company "Genomics England" founded, which has now achieved its goal. The sequencing was carried out at the Wellcome Sanger Institute in Hinxton near Cambridge using machines from Illumina, company from California.
Focus on cancer research
Although the genome analysis was only carried out on 85,000 people. However, these included 15,000 cancer patients in whom the genome of the tumors was completely sequenced. The mutations (and other aberrations) by which the genome of tumor cells differs from that in the patient's reproductive cells can provide important clues for the development of cancer. Cancer research is one of the first and most important beneficiaries of genome analysis. In number of tumors (starting with breast cancer), mutations (e.g. in HER2) are now being looked for in order to derive targeted therapy (e.g. with the antibody trastuzumab).
According to "Genomics England", the second group of people who can benefit from genetic analysis are patients with rare hereditary diseases. In 4 of the 85,000 participants, rare disease was discovered during the genome analysis for which there was treatment option. A mutation had led to the failure of the enzyme guanidinoacetate-N-methyltransferase (GAMT), which is involved in the synthesis of creatinine. The disease leads to neurological development disorders in the first few years of life. The creatinine substitution is said to have improved the symptoms in the six-year-old child.