A 5-year plan to cut deaths could see DNA testing at GP surgeries becoming routine. The ‘genomics dream’ outlined by England’s Chief Medical Officer, Dame Sally Davies, would involve every cancer patient having his or her whole genome sequenced, making the procedure as standard as blood tests and biopsies.
DNA sequencing is rapidly evolving, and getting quicker and cheaper all the time. Almost 15 years after the Human Genome Project successfully mapped the first human genome (costing almost £2 billion), technological advances now make sequencing possible in less than a day. Costs have also come down from several thousand to just a few hundred pounds. Genome mapping can not only help doctors diagnose disease, it can help drug companies develop tailored treatments.
In her report Generation Genome, Dame Sally explains the concepts of genes, genomes and their sequencing. A gene is a piece of DNA with a code for a specific instruction (such as eye colour), whereas a genome is an organism’s whole set of DNA. The human genome is a collection of 20,000 genes, including 3.2 billion DNA nucleotide bases. All humans share about 99.8% of the genome. What makes each of us unique – and also the diseases we are prone to – lie in the other 0.2% of the genome, which is about 3 or 4 million DNA nucleotide bases.
Genomic medicine has the potential to save costs and improve quality of care by targeting treatment, maximising benefit and reducing side effects, says Dame Sally. As such, she has challenged the NHS and the country’s biotech industry to do more. Ideally, she would like whole genome sequencing to become standard practice on the NHS within 5 years, starting with all cancer patients getting their genome mapped.
“Genomics is not tomorrow. It’s here today. I believe genomic services should be available to more patients, whilst being a cost-effective service in the NHS. This is exciting science with the potential for fantastic improvements in prevention, health protection and patient outcomes. Now we need to welcome the genomic era and deliver the genomic dream!”
Tens of thousands of NHS patients have already had their DNA mapped, but the new recommendations set out in Dame Sally’s report aim to increase these numbers significantly. “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”, says Dame Sally. Among her chief recommendations are the setting up of a National Genomics Board, a call to centralise all genetic-testing laboratories, and the establishment of a national network providing equal access to the tests across England.
“The age of precision medicine is now and the NHS must act fast to keep its place at the forefront of global science.”