Second, there is strong alignment between patients (and their families) and researchers in terms of data and samples. Patients are typically willing to donate both samples and data for research, and this matches what researchers need to progress the scientific understanding of their diseases. However, there is a fundamental mismatch between what patients are willing to donate, and what our national infrastructure that supports and governs trustworthy research is capable of delivering.
While great strides have been made in making routine clinical data on patients who have consented for research available to researchers in secure ways, all too often parts of our national health service fail to respect the consent that research participants have given for their data to be used for research. For example, while a researcher can study hospital data on participants in the 100,000 genomes project, they cannot analyse data from GPs, even though people have consented to share these data. A similar situation is true for English participants in UK Biobank (which includes my parents). This leads to a partial and biased view of the clinical features of rare disease patients. This is a separate issue to the use of health data on patients that have not necessarily consented for research (e.g. the debacle around care.data). This issue is more about respecting the desires of people to participate in research and their wishes for their clinical data to be used securely and confidentially to further understanding of their condition.
Rare disease patients are also typically very willing to provide biological samples for research. They often provide many biological samples for their clinical care over the course of a year, and often consent for any remaining material to be used for research purposes. However, very few of the biological samples managed by the NHS ever make it into researchers hands. The logistical and governance barriers are currently too onerous, although other healthcare systems have managed to overcome these. The consequences of this challenge are that researchers often have to set up parallel systems for obtaining biological samples from rare disease patients for research, which makes the research much more expensive and slower than it needs to be. It also potentially leads to certain groups being underrepresented in research studies, especially those living in the most challenging circumstances. Facilitating research use of excess clinical samples should make research quicker, cheaper, more powerful and more representative.