Advances in genomic medicine services in the NHS offer an unprecedented opportunity to determine the genetic basis of thousands of undiagnosed rare diseases and improve care. For experts to make robust interpretation and diagnoses of rare diseases they need access to high quality genomic and clinical data from patients and the wider population. But there are numerous challenges to sharing and accessing the patient data.
We hosted a joint meeting with the Association for Clinical Genetic Science (ACGS), to discuss the most pressing challenges to sharing human clinical genetic and genomic data in the context of rare disease. Following supplementary analysis, we developed eleven key recommendations for responsible and proportionate sharing of data for patient benefit.
Data sharing to support UK clinical genetics & genomics services explores current data sharing practices and barriers within clinical genetics laboratories, and how data sharing practices can be improved, particularly within the NHS.
It includes a report of a workshop held in collaboration with the ACGS on 23 June 2015, which convened 60 stakeholders to assess the legal, clinical and technical considerations of sharing genetic / genomic data. We also surveyed clinical genetic laboratories to better understand current data sharing practices and perceived impediments to sharing.
We found that current arrangements for sharing genetic / genomic data within the NHS are unsatisfactory. Sub-optimal data sharing can potentially lead to misdiagnosis resulting in inappropriate patient care, or delays in patient diagnosis.
Crucial recommendations – there is an urgent need for:
- Strong leadership by the multiple responsible health organisations to demonstrate the benefits and risks associated with data sharing, and not sharing
- National agreement on the legitimacy of data sharing
- Operational agreement on the use of a designated database / infrastructure or mechanisms to exchange and access information
By Sobia Raza, Alison Hall, Chris Rands, Sandi Deans, Dominic McMullan, Mark Kroese
