Sharing clinical genomic data for better diagnostics

By Alison Hall, Leila Luheshi and Sobia Raza

7 October 2014

Policy briefing

Accurate determination of the genetic cause of a rare disease depends on the availability of knowledge about which mutations in a patient’s genome could underlie their condition. As genomic research and analysis expands, this knowledge base is increasing rapidly but access to it, even within the National Health Service, is often severely restricted by inability or unwillingness to share this data across and even within institutions. This situation is incompatible with the delivery of high-quality, efficient, and reliable, genomic medicine in the NHS. The barriers to sharing genomic and clinical data must therefore be recognised and addressed as a matter of urgency.

Well executed whole genome analysis offers an unprecedented opportunity to determine the genetic basis of thousands of undiagnosed rare diseases, but a key bottleneck in delivery is the ongoing struggle to analyse and interpret complex and voluminous genome sequence data. This necessitates the comparison of a patient genome with current genomic, genetic and clinical data on the wider population and other patients with the same or similar illnesses. It is therefore essential for clinicians and scientists to have routine access to all existing information on the genetic variants and associated clinical characteristics relevant to their patient’s disorder, in order to make the most informed interpretation and diagnosis.

Sharing clinical genomic data for better diagnostics explores the need for sharing genomic data within the NHS for delivering clinical genetic diagnoses, and sets out recommendations for addressing current barriers. Not covered here are the wider socio-political, ethical and regulatory concerns surrounding genomic and clinical data sharing within and beyond the NHS, which must also be addressed in order to balance safeguarding patient interests with advancing genomic medicine.

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