The Patient Charter

Guest post by Alice Hazelton from the Genetic Alliance UK

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 decrease, 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’, 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% 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.

93% of participants said that they would want their genome sequences to be used for research

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.

The Patient Charter

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% of a group of 1,133 previously undiagnosed children [1], and discovered twelve 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 was 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%), universities (77%) and charities (63%) 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.

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)

Genetic Alliance UK