Prof Mark Caulfield… reflects on the impact the 100K Genome Project could have on the NHS
Putting the United Kingdom at the forefront of using whole genome sequencing for patient benefit is going to have a profound long-term impact on services delivered on the front-line of the National Health Service (NHS).The 100K Genome Project is not a research project in any traditional sense, it is an ambitious transformation programme to change how clinical care is delivered to NHS patients. We will draw on the experience that researchers and patients have that are similar to those in clinical trials, but Genomics England has been created first and foremost to improve the use of genetic sequencing for better treatment of NHS patients.
There are regional geneticist and cancer services up and down the country that provide an excellent level of service to patients with many diseases, including rare inherited diseases and cancer. It is in these services that patients will be engaged to consent to participate in the 100K Genome Project and where patients will also get the feedback of what WGS has identified from their DNA.
There is no doubt that the scale of what GeL is trying to achieve is ambitious. To sequence 100,000 genomes in the next four years, including in some cases both the biological parents of patients with a rare inherited disease or cancer, and combine these results with their clinical record has never been done on this scale anywhere in the world. In cancer we will sequence the DNA from the person and also from their cancer. The NHS is well-placed to use its role as a universal healthcare service for more than 50 million people in England to achieve this and create a unique resource that will be available to support clinical care and research.
GeL is mindful, however, of the impact that such a ground-breaking change will have on front-line staff in the NHS. This impact is three-fold.
First, it is the NHS healthcare teams providing care to patients with inherited diseases and cancer, who will secure the appropriate consent from their patient to take part in the programme. The relationship between a patient with a serious condition and the clinical team providing care is a very special one, built on trust and honesty. GeL is therefore working closely with NHS England to ensure the appropriate education programmes and support is there to create a transformation of the use of Genomic Medicine in the NHS.
The second major change is that this programme is designed to face the NHS reporting back the findings of whole genome sequencing (WGS) to the NHS through the clinical teams who face the patients. This is more complicated than it sounds. As Mike Parker’s blog mentions, the significance of some of the findings from the individual patient’s DNA may not be clear. ‘Findings of uncertain significance’ may become both certain and significant over time, as research improves. So we are developing a policy of what we will feed back to the clinician and how the clinician will then in turn provide the all-important feed back to the patient. Some patients may have consented to receive feedback on everything that is found, others may only want feedback from what the DNA suggests about their specific disease or condition, and little or nothing else.
NHS clinicians will need greater training and support before they can provide the feedback to patients on the WGS. This training will be provided in partnership with Health Education England. GeL is already in discussion with the various NHS bodies that develop the training and skills of front-line NHS staff. Providing patient feedback on the basis of genetic testing is already done in specialist regional centres by staff who have experience of providing patients with difficult, or uncertain, news. GeL will invest in building on their skills for interpreting WGS and providing feedback to patients.
The third way that GeL will impact on NHS clinical care is likely to be longer-term, and that is potential changes to what happens next, once the results from the WGS are clear to both patient and doctor. Regular reporting from WGS that has a widespread impact on how NHS services are planned and delivered could be many years away. But one way could be that new tests or even treatments are developed that allow for the earlier diagnosis or improved treatment of particular conditions or cancers.
GeL has made clear that it wants to focus its work on areas of current unmet need in the NHS, so another long-term impact of its work is likely to be patients who have a disease that has not been fully diagnosed may at last get a definitive diagnosis from the NHS.
The funding of GeL covers the sequencing of samples from patients and providing the report back to the clinician, as well as making the WGS data and the anonymised patient record available for research and development of treatments. But GeL’s impact on other parts of the health sector – service commissioning, education and training – is going to be beyond its own immediate remit and resources. Here we will work closely with NHS England.
The overall impact of the work of GeL could be to transform the NHS provision of diagnostic tests and then care to a whole range of patients. This could itself have an impact on how services are commissioned, with perhaps greater emphasis on testing of the broader population in order to achieve earlier diagnosis and more effective intervention for patients most at risk from developing very serious illnesses.
Prof Mark Caulfield FMedSci is the lead scientist for Genomics England. He is Director of the William Harvey Research Institute and the National Institute for Health Research for the Barts and The London School of Medicine and Dentistry at Queen Mary University of London.
mark.caulfield@genomicsengland.co.uk
No hay comentarios:
Publicar un comentario