Responsible, proportionate data sharing for better and safer genetic services

By Sobia Raza

16 December 2015


UK health policy is increasingly focusing on making better use of healthcare data and digital technologies to improve and enhance models of care delivery. To achieve this goal, and accelerate developments in health innovations and drive forward efficiency in health services, much greater levels of information sharing is required.

Our joint publication with the Association of Clinical Genetic Science (ACGS) examines the most pressing challenges to achieving greater levels of data sharing within the NHS in the context of clinical genetics and genomics services. The recommendations of this report were informed by a workshop co-hosted by the PHG Foundation and the ACGS earlier this year. 

A combination of factors are responsible for considerable differences in data sharing practices between clinical genetics laboratories. In this report we identified the most significant challenges as:

  • Legal uncertainty on the legitimacy of data sharing, which contributes to a lack of confidence by healthcare professionals to share data
  • Lack of practical support for data curation
  • Absence of a designated infrastructure for sharing data

Improving data sharing - why the urgency? 

Apart from driving the improvements in our understanding of genome variation, the case for data sharing across clinical genetics services is one of patient safety and service quality.

  • If datasets reside in individual silos, and knowledge is inaccessible and / or unknown to others delivering genetic testing services then the probability of a patient receiving a diagnosis for their rare disorder may well depend on the local expertise of the laboratory, to which their genetic testing is referred
  • If different laboratories have access to varying evidence, they may come to different conclusions about the same genomic variant, which may potentially in some cases lead to misdiagnosis and inappropriate patient care 

The above factors ultimately create inequalities in services across the country. Without significant attempts to improve data sharing practices, disparities in services will only widen in the era of whole exome and genome sequencing, with the creation of bigger data sets.  

What needs to change?

Our workshop and analysis underscores that sharing genetic / genomic data and associated clinical and phenotypic data and metadata is a necessary and integral part of clinical care and NHS service delivery, rather than an ‘optional’ extra. Our report gives 11 recommendations to improve, optimise and transform existing practice. Amongst the most crucial actions needed are:

  • 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

Unless these three areas are addressed as an urgent priority, the operational imperative and political desire to position the NHS at the forefront of genomic medicine will be severely undermined.  

Building on the momentum 

Throughout this project, the determination and desire of the clinical genetics community to better serve their patients through improvements in data sharing practices has been clear. Since the meeting took place there has been a 120% increase in the number of cases shared in the NHS Consortium of the DECIPHER database, and the ACGS have initiated plans to develop best practice guidelines on data sharing for professionals and we look forward to supporting them in this endeavour. 

However, the multifaceted challenges to data sharing require multifaceted solutions. We therefore urge health leaders, policy makers, and the relevant health organisations to heed our recommendations; doing so would enable and empower the clinical genetics community to ensure as far as practicable that they can deliver the best possible services to patients. These recommendations implemented within a regulatory environment that fosters a more proportionate approach to data sharing could facilitate a more transparent and accountable landscape, helping to foster public confidence and trust.

As the challenges to data sharing are not unique to human genetics and genomics, our recommendations have the potential to inform the development of data sharing practices in other areas that impinge on healthcare and public health. 

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