The UK wants to be one of the first countries to make whole genome sequencing a routine part of medical care. But dealing with the flood of data, sharing it with researchers and companies without breaching confidentiality, and informing patients of relevant and potentially disturbing findings will not be easy.
In December, the UK finished sequencing the genomes of the 85,000 participants in its 100,000 Genomes Project. It is claiming great results.
In people with cancer, half of all genomes 鈥渃ontain potential for a therapy or a trial鈥�, said Mark Caulfield at Genomics England, a company owned by the UK鈥檚 health ministry, speaking at the in London last week. For those with rare diseases, a quarter of genomes have revealed 鈥渁ctionable findings鈥�.
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This genome data is now starting to be used to tailor drug treatments to patients 鈥� for instance, to reveal which are likely to suffer serious side effects. Caulfield hopes this will become routine. 鈥淲hat if we carry round on our phone our pharmacogenetic profile?鈥� he asked.
This is already happening elsewhere. In Estonia, 15 per cent of the population totaling 155,000 people have had their genomes sequenced, and doctors already use this information when prescribing, said Andres Metspalu at the University of Tartu聽at the聽same meeting.
In the UK, new technology is also being used to detect genes containing lots of repeats of short bits of DNA 鈥� the genetic equivalent of a stuck record聽鈥� which can cause diseases such as Huntington鈥檚. This raises tricky ethical issues as some people may not want to know if they have Huntington鈥檚, but other members of their families who have inherited the same DNA might do.
Now the aim is to sequence 5 million genomes. How this would be funded Caulfield did not say. But shortly afterwards the UK health secretary announced that . For those with serious diseases, it will be free.
Informed consent
This push to sequence millions of genomes is much about research as treating patients. If people consent, their 聽is made available to approved academic researchers, and for a fee to approved private companies.
People don鈥檛 like the idea of their data being used this way when first told, said Fiona Caldicott, the National Data Guardian for the UK, at the meeting. But once the benefits are explained 鈥� that the research could lead to findings that benefit others 鈥� they usually agree.
But this consent depends on trust that their data will be protected, she said. 鈥淭his is something that is easily damaged.鈥�
Even before the 100,000 Genomes Project is finished 鈥� it has only analysed and returned results for 50,000 of the genomes sequenced so far 鈥� the UK鈥檚 National Health Service is setting up a network of Genomic Medicine Centres to integrate sequencing into routine treatment. This will improve diagnosis and treatment, and help prevent diseases, said the chief medical officer to the UK government, Sally Davies. She envisages whole genome sequencing entirely replacing more specialised genetic tests.
But others at the meeting warned of the many challenges, such as the great uncertainties in interpreting genomic data, and the difficulty of explaining this to patients. 鈥淔ully informed consent is very difficult for genomics,鈥� said clinical geneticist Anneke Lucassen of the University of Southampton.
