Using the whole genome sequence, NHS One study found millions of pounds after finding that a quarter of people with rare illnesses were diagnosed with their condition by this technique.
In some cases, the findings provided reassurance to families that they did not convey their condition to their children, in other cases they affected life-changing treatments.
Although rare personally, rare hereditary diseases affect about 6% of the UK population, or about 3 million people. Traditionally, geneticists have searched for abnormalities that support such a condition by examining a person’s chromosomes under a microscope, but this is a small but often very important change, such as a single-letter replacement of the genetic code. I’m not good at finding it.
For this reason, “many people with rare illnesses either live a very long diagnostic odyssey to get an answer as to why they are, or they cannot get an answer for a lifetime. “Professor Mark Colefield said Queen Mary University of London (QMUL) is a former Chief Scientist at Genomics England.
2013, British Government Launched 100,000 Genome Project Whether WGS, which includes reading the entire 3 billion sets of characters in the human genome, will help physicians better understand the causes of a patient’s symptoms and identify other families at risk. To investigate. Five years later, NHS England launches WGS for the first time in the world Undiagnosed rare disease Cancer as part of routine care.
Studies published in New England Journal of MedicineIs the first company to analyze the diagnostic and clinical effects of such gene sequencing within the national healthcare system. Researchers, also led by QMUL’s Caulfield and Prof Damian Smedley, analyzed the genomes of 4,660 people from 2,183 families.
Doing so has led to new diagnoses in 25% of patients, many of whom have endured years of medical evaluation without satisfactory answers. One-quarter of these cases received more focused care, including further family screening. Providing vitamin and mineral supplements, or other treatments that help manage their condition.
For certain conditions, such as intellectual disability, visual impairment, and hearing impairment, the diagnostic rate was even higher, ranging from 40-55%.
The beneficiary was Terry Hedley, a 41-year-old paramedic from Newcastle upon Tyne. His father, Leslie, endured years of treatment for serious kidney disease, including two kidney transplants, and his uncle died of kidney failure. Hedley was also diagnosed with kidney problems at the age of 21.
She has been taking medication for the past 20 years, but recently her kidney function has deteriorated and she may eventually need a transplant. Her greatest fear was that she might have told her 20-year-old daughter Katie about her condition. But there was no way to test her for it without knowing the cause of their condition. WGS has now identified the gene responsible for the family’s problems and revealed that Katie does not have it.
Hedley said: That means that kidney problems essentially stop with me. “
In another case, genomic analysis of a boy who died at the age of four months revealed that his problem was due to the inability to transport vitamin B12 into cells. By identifying this genetic abnormality, the younger brother was diagnosed with the same problem within the first few days of life and was able to point out an effective treatment, a weekly vitamin B12 injection that prevented his disease from progressing. ..
Not only can WGS improve patients’ lives, but it can also free NHS services and in some cases save hundreds of thousands of pounds. For example, a 10-year-old girl who endured multiple visits and admissions to the intensive care unit during a 7-year diagnostic odyssey was estimated to cost NHS £ 356,571. Once her underlying problem was identified by genomic sequencing, the cost of a bone marrow transplant that cured her was £ 70,000.
Smedley said: “This is the first time that the entire genome sequence has been directly integrated into the diagnosis of rare diseases in medical systems such as the NHS and has been extensively applied to the entire range of rare diseases. This study shows that medical systems around the world have rare diseases. It has been shown to employ whole-genome sequencing as the optimal genetic test for the patient. “
WGS was as helpful as 25% of patients were diagnosed, but 75% are still waiting for a response. Since their genomic sequences are stored in data banks, it is hoped that further diagnosis will be revealed as researchers learn more about the genetic basis of the disease.
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