Honourable Mention: Clara Podmore Data Sharing Essay
How do you imagine the future of data sharing in healthcare or research?
Since the discovery of the structure of DNA in 1953 by Watson and Crick, research in the field of human genetics has progressed at an incredible pace and is now clearly impacting the way medicine is being practiced and taught. The vision is that better understanding of genetics will not only allow identification of individuals at risk of developing a given disease and hence enable prevention, but that it will also allow personalisation of medical care to patients. For example, treatments will be prescribed more appropriately to patients based on their genetic information, hence improving drug response while decreasing the number or risk of side effects of medication, such as potentially fatal drug reactions. In addition, the identification of mutations, which are faults in DNA which may lead to disease, will provide a better understanding of the disease process and hence provide new targets for drug development.
In this present time, when obtaining a DNA sample is a fairly non-invasive procedure and can be done simply by taking a sample of blood or even saliva, a substantial number of individuals in Europe or North America have had some sort of genetic testing of their DNA done. This includes some people who may not even be aware of the details of the detail of information gathered, even though they have consented to it. The extent of genetic information obtainable on an individual ranges from testing for one or more specific mutations (genotyping), to whole genome sequencing, where each single nucleotide, or building block of DNA, is determined. While some of this type of genetic testing may take place in a clinical setting to screen for a rare familial disorder or diagnose and characterise a disease, a lot more genotyping is carried out for the purpose of research, including in large population studies. In addition, efforts such as 23andMe, where any individual can provide a saliva sample and be given information on their ancestry or even genetic information relevant to one or more diseases, have popularised access to one’s genetic information. So far, the limiting factor for genotyping and sequencing in the research context has been the cost; however, this is now rapidly plummeting, making it conceivable that more detailed genotyping and even sequencing will soon be applied on a much larger scale than that attained so far. Extensive efforts such as UK Biobank, where consent has been obtained to obtain genetic information on half a million people in the UK is a witness to this.
The reality is that the number of individuals with identified genetic information and the detail of this information is already increasing exponentially and will continue to do so in the coming months and years. It is crucial that the research and healthcare communities are prepared to receive, process, store and make use of this data in the most efficient and secure manner, ultimately to benefit the progress of medicine. A key factor in enabling genetic data to be used effectively for research purposes, will be to also have access to the relevant individual’s non-genetic data, such as disease status, levels of certain blood markers, as well as lifestyle and behavioural information. The best way to enable this in a cost effective manner will be to link each individual’s genetic data to their primary healthcare as well as hospital data, therefore giving facilitated access to researchers to precise information on any current or future disease onset. At a time where many hospitals are converting their patient files to electronic files, it seems like the perfect opportunity to consider setting up the infrastructure to deal with the coming influx of genetic information as well. This has the added benefit that if in the future, a patient needed genetic testing in a clinical context, previously collected genetic information would be readily available and would hence avoid the cost and time of repeating genetic tests.
Importantly, the availability and sharing of genetic information will require scrutinous legislation and security. Of course, this includes anonymisation of data as soon as possible, but also robust, fail proof systems to guarantee the security of genetic as well as non-genetic data. Even though we live in a time where some people share probably more personal information than their publicly via social media such as Facebook or Twitter, the research and healthcare community must honour and respect the commitment of individuals who provide information for research. In order to maximise the potential of data collected locally for research purposes, large scale sharing of data is probably the next big step our research community will take. This will require standardisation of research methods, of data collected and building the infrastructure to share data across cities, countries and continents. Even more importantly, I believe that public education concerning the way data is gathered, processed, stored and used is essential to enable society to engage with medical research in a mutually beneficial way.