With Great Genomic Data Comes Great Responsibility

Progress Educational Trust
Kennedy Lecture Theatre, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH
26 June 2018
This public event was organised by the Progress Educational Trust (PET) in partnership with Genomics England, the organisation established by the UK Government to deliver the 100,000 Genomes Project.
The event formed part of the Genomics Conversation, a programme of activities which involves the public and stakeholders in discussions about key issues in genomic medicine.
Below, you can watch a film of the event produced by the education charity WORLDwrite. (If you cannot see the film below, click here to view it.)
You can also read an article about the event by PET Director Sarah Norcross, and a synopsis of the event proceedings by Charlott Repschlager, in PET's flagship publication BioNews.
The next event in the Genomics Conversation programme will be 'Talking Genomics with Patients', taking place in Birmingham on the evening of Tuesday 5 March. Details can be found here.
Other events in the Genomics Conversation programme have included 'What Next for Genomics? Providing Answers, Changing Lives, Transforming the NHS', 'What Does Consent Mean for Generation Genome?', 'How Do We Make Genomics Everybody's Business?' and 'Whose Genome Is It Anyway? Big Data and Your DNA'. Films of these events can be found on PET's YouTube channel here.

A growing number of high-profile projects, in the UK and internationally, involve sequencing and studying our whole genomes - the complete set of genetic instructions contained in most of the cells of our body.
This year will see the completion of the 100,000 Genomes Project established by the UK Government. It will also see the launch of a new national NHS Genomic Medicine Service, focusing in the first instance on rare diseases and selected cancers, as part of a longer-term ambition to incorporate genomics into mainstream UK healthcare. Meanwhile, the UK is one of 13 European countries that signed a declaration this year committing to enable cross-border access to genomic data, with the aim of making one million whole genome sequences available to study by 2022.
Genomic data is formidable in size. An individual's genome consists of more than six billion base pairs (the 'letters' of the genome) and takes around 200 gigabytesto store digitally, meaning that the 100,000 Genomes Project is amassing more than 20 million gigabytes (20 petabytes) of data. This 'Big Data' is both an asset and a challenge - the more patients' genomes there are in a dataset, the greater the potential of that dataset to yield accurate insights into human disease and health, and the greater the importance of holding and using the data in a responsible way.
It isn't just the number of patients involved which makes genomic data powerful, but the ability to link it with other health-related data including lifetime medical records. Extricating all of this data from the 'silos' in which it sits promises enormous benefits - a Parliamentary committee concluded recently that 'the data collected by the 100,000 Genomes Project, the Genomic Medicine Service and the wider NHS will constitute the best data resource for genomic medicine in the world' - but also brings difficulties of its own.
One challenge is working within the NHS 'data infrastructure', which involves the entire UK population of 65 million and an estimated 57,000 NHS bodies and providers, and which encompasses everything from cutting-edge whole genome sequencing to the 'Paperless 2020' initiative to move beyond reliance on paper-based medical records and documents. As this data becomes centralised and standardised, there are rapidly advancing technologies that can help us sift through and make sense of it - algorithms, artificial intelligence and machine learning.
The Prime Minister Theresa May has announced that the UK will 'lead the world in the fourth industrial revolution' and 'use data, artificial intelligence and innovation to transform the prevention, early diagnosis and treatment of diseases like cancer, diabetes, heart disease and dementia by 2030'.
Questions explored at this event included:
What responsibilities do public and private organisations have, in relation to the genomic data they hold? What assurances can they give about the security and integrity of this data, and about who has access to it?
What responsibilities do researchers, doctors and other healthcare workers have, to make the best use of the genomic data available to them? What currently prevents them from doing so?
What responsibilities do governments and policymakers have, to promote advances in genomics and Big Data while also regulating these areas appropriately? What have been their successes and failures to date?
What responsibilities - if any - do patients have in relation to their genomic data and other health-related data? What implications does this have for their blood relatives, with whom they share part of their genome?

Professor Ann Dalton
Director of the Sheffield Diagnostic Genetics Service at Sheffield Children's Hospital
Anthony Brookes
Professor of Bioinformatics and Genomics, and Director of the Biomedical Informatics Network for Education, Research and Industry, at the University of Leicester
Tim Hubbard
Head of Genome Analysis at Genomics England, and Professor of Bioinformatics at King's College London
Dr Natalie Banner
Lead at Understanding Patient Data, and Policy Adviser at the Wellcome Trust

Timandra Harkness
Science writer and broadcaster, and author of the book Big Data: Does Size Matter?

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