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Data sharing: a patient perspective

by Guest Author on 19 Feb 2015

Genomic data from patients is a rich source of information for research into how our genes affect our health and here at the MRC we are keen to harness its power as part of our vision for informatics research. But what do patients think about their genomic data being shared for research? Here Alice Hazelton, Public Engagement Officer for Genetic Alliance UK, writes about the charity’s efforts to find out.

Families from SWAN UK tour the Wellcome Trust Sanger Institute

Families from SWAN UK tour the Wellcome Trust Sanger Institute (Image copyright: Genetic Alliance UK/Joshua Tucker)


Genomic information has the potential to transform healthcare. Researchers are continually learning more about the genome and the genetic basis of disease and as the cost of genome sequencing technologies and analytics tools fall, more and more research will become possible.

This will help us to achieve a greater understanding of how our genes affect our health and develop new diagnostic tools, screening methods and treatments for some conditions. The sharing of patient data will play a crucial role in this.

Whenever the sharing of patient data is discussed, public debate ensues over concerns about data security, privacy and access. But little work has been done to establish what patients, as the end-beneficiaries of medical research, think about sharing data.

Through an online engagement project, ‘My Condition, My DNA’, supported by the MRC, Genetic Alliance UK sought the views of patients affected by rare and genetic conditions, both diagnosed and undiagnosed, on genome sequencing.

Four sessions including text, podcasts, videos and questions were distributed to patients over the course of four weeks, allowing them to take part in their own homes at a time convenient for them. One of these sessions was about the use of genomic data.

When we asked patients what they thought about the use of genomic data for research, 93 per cent of participants said that they would want their genome sequences to be used.

This result is perhaps different to what the general public might say, but not surprising. Many of the participants who took part in our project are already diagnosed with rare and genetic conditions, and around half of them have no diagnosis for themselves or their child.

Patients in this community tend to be familiar with the need for their data to be shared and used widely. Given the small number of individuals affected by rare conditions, patients recognise that collecting as much data as possible, often across international boundaries, is vital to make enough information available to researchers so they can carry out meaningful studies.

For these patients, not sharing data would be detrimental to research efforts and as a result, to potential scientific advancements that could improve their quality of life.

Coordinated sharing of data has already had a great impact on the lives of some of the members of the SWAN UK community for example. SWAN stands for ‘syndromes without a name’, and SWAN UK is a community of families who have children with undiagnosed genetic conditions. Many of the families are participating in the Deciphering Developmental Disorders (DDD) study in the hope of getting a diagnosis.

To date, the study has diagnosed 27 per cent of a group of 1,133 previously undiagnosed children [1], and discovered 12 new developmental disorder genes [2]. Eventually 12,000 children and parents will be recruited to the study and as their number increases, the project team hopes that it will be able to diagnose more patients.

Families value a diagnosis even when this does not directly lead to new treatment options. A diagnosis can tell them what the future might hold: whether their child will walk or talk, or what their quality of life or life expectancy might be.

When we further asked patients and families whether their views on sharing their genomic information for research were dependent on the type of organisation that would be undertaking that research, there were some interesting differences.

Around two thirds of respondents were happy for the NHS (80 per cent), universities (77 per cent) and charities (63 per cent) to use their data for research purposes. The fact that the majority of respondents supported genomic research within the NHS is a clear endorsement from our patient community that they welcome current and future initiatives that put the NHS at the heart of this type of research.

In contrast, 38 per cent of respondents said that they were comfortable with private companies using their data and just 31 per cent would trust government institutions to use their data for research.

These figures are surprising, and further discussion with patients is required to understand the reasons for such views.

Alice Hazelton

 The My Condition, My DNA project was supported by the British In Vitro Diagnostics Association, the Medical Research Council and the Wellcome Trust. Its results are detailed in Genetic Alliance UK’s Patient Charter, Genome sequencing: What do patients think?, launched last week (11 February).

[1] Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. The Lancet, doi: 10.1016/S0140-6736(14)61705-0 (2014)

[2] Large-scale discovery of novel genetic causes of developmental disorders. Nature, doi: 10.1038/nature14135 (2014)


I find the low percentages of patients happy for various organisations to use their DNA for research a little surprising and wonder if it is due to how the question was presented and the level of understanding of the respondents. For example, there is an apparent difference between levels of trust in ‘universities’ and ‘charities’ but do patients understand that those are not mutually exclusive categories? Much (most?) charity-funded research is performed in universities.
Why the low level of trust in ‘government institutions’? Does the MRC count as a government institution?
When I worked for a pharma company and we routinely asked patients for consent to use their DNA in research, consent was given in >90% of cases. This is in stark contrast to the 38% figure given here and must surely be due to how the question is posed. When pharma companies, and of course other research institutions, ask for consent, they explain in great detail how the samples will be used, the scope and limits of research, how long samples will be retained, aspects of confidentiality, etc. This is bound to result in a higher positive response rate than asking a bald, context-free question about which organisation you trust more.

author avatar by Kevin Cheeseman on 20-Feb-2015 14:59:51

The aim of the study was to broadly examine patient attitudes to genome sequencing and was unable to look at this issue in depth. This finding came from asking our participants an open-ended question, ‘Who would you trust to use your genomic data for research?’ The figures are perhaps surprising given that 93% of participants had previously said that they were happy for their data to be used for research (without specifying who would be undertaking the research). As you say, we think what is most important for obtaining patient trust, and therefore consent, is properly explaining to patients how and what their data will be used for. We think these figures highlight the work that still needs to be done to examine why patients responded in this way and what can be done to better communicate the relationships between different research organisations and funders, and what regulations govern research in academic, clinical and industry settings. If we had provided this level of detail before asking the question perhaps we would have got different results, but the findings of our study are interesting in that they give us some insight into the initial reactions of patients and how they perceive third-party research.

author avatar by Alice Hazelton on 27-Feb-2015 10:11:53

“… Genomic data from patients is a rich source of information for research into how our genes affect our health …” I very, very much doubt if this is true. From my own, albeit anecdotal, observations, patient histories as catured by medical personnel are so full of holes or outright false or beside that actual point that the genomic data, which by and large might be quite sound and objective, are necessarily connected with patient case histories that are wrong more often than right. Add to that drug interactions and the insufficient recording and analysis of patients’ drug intake (let alone their compliance, i.e. DID they take them at all, how much and when) I believe we are going to build impressive diagnostic strawmen if we combine the two sources.

author avatar by Maureen Coffey on 14-Mar-2015 15:43:13

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