London – British experts announced that their country is on the precipice of a revolutionary discovery in genomic testing making it a normal part of National Health System (NHS) care, beginning with cancer patients and those with rare diseases.
In her annual report, Chief Medical Officer Professor Dame Sally Davies said it was time to end the “diagnostic odyssey” and she described the testing as “genomics dream” which would see millions of patients having all their DNA tested as genome sequencing becomes as routine as MRI or CT scans.
Davies said NHS must embrace DNA testing which can correctly identify not just illnesses but also specific genetic mutations which play a dramatic role in success of treatments, adding that it should be available as standard as blood tests, MRI and CT scans by 2022.
Chief Medical Officer explained that with genomic testing drugs can be matched to the disease and to the patient to maximise the benefit and reduce side-effects.
Davies says that individual patients have everything to gain from the pooling of data which allows scientists to compare hundreds of thousands of genomes, to find out why some have small mutations or errors in the code that lead to illness.
“The age of precision medicine is now and the NHS must act fast to keep its place at the forefront of global science,” said Davies.
“This technology has the potential to change medicine forever – but we need all NHS staff, patients and the public to recognise and embrace its huge potential. Genomic medicine has huge implications for the understanding and treatment of rare diseases, cancer and infections,” she added.
Health Secretary Jeremy Hunt welcomed the report, pointing out that the UK had established itself as a world leader in genomics medicine.
He added: “Tens of thousands of patients across the country have already benefited from quicker-diagnosis, precise treatment and care, and we will support the NHS to continue its relentless drive to push the boundaries of modern science.”
Tests prices fell to to £680 which is part of what made greater access to whole genome sequencing feasible.
The genome is the collection of 20,000 genes, including 3.2 billion letters of DNA, that make up any individual.
In other news, Scientists at the Babraham Institute in Cambridge, UK, have found a way to detect these changes, which could enhance cancer diagnosis and aid the use of targeted treatments.
Journal Genome Biology outlined a new application of a technique called Hi-C, which allows scientists to map how genetic material is arranged inside cells.
By analyzing this information, researchers can reliably identify major genetic changes that other methods may miss.
“Chromosomal rearrangements are seen both in the general population and in the majority of cancers. Detection of chromosome rearrangements in patients can be troublesome and many can be missed. This can be detrimental, particularly in oncology where rearrangements can play both diagnostic and prognostic roles,” member of study Dr. Louise Harewood, stated.
Professor Peter Fraser, used Hi-C to examine the genome of cancer cells from six people with brain tumors. They were able to identify major genome changes, often with pinpoint accuracy.