On Wednesday 30th
January Rhian Kiely and Fiona Glen from OPEN VIE attended the first UK Healthcare Businesswomen’s Association event of the year, focused on the “Importance of a Robust Approach to Data within Genomics”.
Originally set up in 1977 to further the advancement and impact of women in the business of healthcare, the HBA run a series of events (open to all) throughout the year that aim to develop cutting-edge industry knowledge and leadership skills.
Featuring a fantastic panel of expert speakers from NHS England - Dr Sandi Deans, Genomics England - Joanne Hackett, European Bioinformatics Institute (EMBL-EBI) - Dr Helen Parkinson, KPMG - Caroline Rivett and Microsoft - Sander Timmer, the evening focused on the “hot topic” of big data and genomics – the study of the whole genome and how it works using a variety of techniques - and the potential of harnessing the data generated for the diagnosis and treatment of disease.
Recognised as a leader in the field, the NHS has threaded genomics throughout its 10 year plan. Gene sequencing was recently completed for the 100,000 Genomes Project–an initiative that aimed to set up a new genomic medicine service for the NHS that enables earlier diagnosis and access to treatment for people with rare diseases and cancer. As of December 2018, 100,000 genomes from around 85,000 NHS patients with rare disease and cancer, plus their families, have been sequenced, with the next stage of the project focussed on harnessing these data in the best way possible to enhance patient care.
Throughout the discussion the panel touched on some of the challenges that come with dealing with such large and complex datasets. The scale of genome data is unprecedented and highly personal and so discussion was focussed on the fundamental requirement for data to be stored securely and respectfully with rigorous conditions for access, whilst also enabling the level of collaboration needed for new discoveries and insights.
There was also an acknowledgement that the success of such projects will rely on high numbers and the willingness of patients to share their highly personal data, and that transparency with patients will be paramount in order to build up trust and confidence. For instance, the conversation touched on the idea that patients should be treated as a key player in the entire journey and be involved as an equal partner with regard to any project discussions and future steps.
The consent process was also seen as a vital component – ultimately, every person and disease is different and so this process must be done sensitively with the individual needs and situation of the patient in mind. Due to the longitudinal nature of this type of work, there will also be further practical and ethical challenges to be addressed, such as the need to re-consent children once adults and streamlining the process involved with managing patients who wish to withdraw their consent during the project.
Due to the vast scale and expense required for this type of initiative, success will also rely on the collaboration between a diverse range of partners including healthcare providers, pharmaceutical companies and technology firms in order to pool finances, specialist knowledge and resources.
Wider support for the NHS will also be needed to help drive service change and demonstrate value. For example, the real world data generated throughout the project as well as additional bespoke research may help the NHS and wider partners to demonstrate the cost-effectiveness and impact of this work in areas such as time to diagnosis and overall outcomes for patients and their families. Yet perhaps the greatest strength of these data lies not only in their ability to generate novel, publishable scientific insights, but also in the arising opportunity to feed these insights back into care systems to provide meaningful, personalised improvements for patients and healthcare services.