Abstract
BackgroundTechnological advances in DNA sequencing have made gene testing fast and affordable, but there are challenges to the translation of these improvements for patient benefit. The Mainstreaming Cancer Genetics (MCG) programme is exploiting advances in DNA sequencing to develop the infrastructure, processes and capabilities required for cancer gene testing to become routinely available to all those that can benefit.MethodsThe MCG programme held a consultation day to discuss the development of cancer genetics with senior representation from all 24 UK cancer genetic centres. The current service landscape and capacity for expansion was assessed through structured questionnaires. Workshop discussion addressed the opportunities and challenges to increasing cancer gene testing in the National Health Service (NHS).ResultsServices vary with respect to population served and models of service delivery, and with respect to methods and thresholds for determining risk and testing eligibility. Almost all centres want to offer more cancer gene testing (82%) and reported increasing demand for testing from non-genetic clinical colleagues (92%). Reported challenges to increasing testing include the complexity of interpreting the resulting genetic data (79%), the level of funding and complexity of commissioning (67%), the limited capacity of current processes and cross-disciplinary relationships (38%), and workforce education (29%).ConclusionsPriorities to address include the development and evaluation of models of increasing access to gene testing, the optimal process for interpretation of large-scale genetic data, implementation of appropriate commissioning and funding processes, and achieving national consistency. The UK cancer genetics community have high expertise and strong commitment to maximising scientific advances for improved patient benefit and should be pivotally involved in the implementation of increased cancer gene testing.Electronic supplementary materialThe online version of this article (doi:10.1186/s13073-015-0128-4) contains supplementary material, which is available to authorized users.
Highlights
Technological advances in Deoxyribonucleic acid (DNA) sequencing have made gene testing fast and affordable, but there are challenges to the translation of these improvements for patient benefit
Each workshop addressed a defined question: (1) How can we provide equitable gene testing to ovarian patients and their families? (2) How can we ensure variants are interpreted and managed appropriately? (3) How can we implement consistent cancer genetic care across United Kingdom (UK)? The topics were selected by five members of the Mainstreaming Cancer Genetics (MCG) programme team (IS, DR, CT, HH and NR) after evaluation of the pre-consultation questionnaires to allow more focused, detailed discussions of the areas causing biggest concern
Overview of cancer genetic services In the UK, cancer genetic centres provide a service for populations between 475,000 to 5.4 million people
Summary
Technological advances in DNA sequencing have made gene testing fast and affordable, but there are challenges to the translation of these improvements for patient benefit. Healthcare services need to utilise advances in genomic technology and knowledge for the benefit of patients. This was a key theme of the 2003 Genetics White Paper Our Inheritance, Our Future [1]. Cancer genetics offers services to individuals and families with the goal of assisting treatment decisions in patients with cancer and facilitating early cancer detection and cancer prevention in their relatives. This includes cancer risk estimation, gene testing, assistance with
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