The PHG Foundation welcomes the publication of Eurogentest's guidelines for diagnostic next generation sequencing, which are timely, comprehensive and a very useful addition to existing guidance.
In particular, we welcome the suggestion that there is transparency about the extent of quality and comprehensiveness of different NGS assays, and using a common rating system would be a good way of achieving this. The Eurogentest guidelines also highlight the increasingly blurred boundaries between research and clinical care. Transparency about the setting and the objectives of testing is important: the guidelines are also useful in highlighting the circumstances where these activities might overlap.
Diagnostic next generation sequencing technologies are on the cusp of implementation in clinical settings, and many of the topics and issues considered in these guidelines are also addressed in a recent report from the PHG Foundation 'Realising Genomics in Clinical Practice'. The remit of this project was to identify the broad range of ethical, legal, social and practical issues that will arise from the use of expanded NGS gene panels using selected gene lists through to genome-wide sequencing technologies within a clinical setting. Building on background research and analysis over a two year period, this project consisted of five iterative workshops culminating in a comprehensive set of recommendations for implementing these technologies in ways that improve health care while minimising potential harms.
In many respects, there are common themes between the recommendations in the Eurogentest's guidelines, and the recommendations in the Realising Genomics report (RG):
- The use of core disease gene lists is encouraged on the basis of providing consistent test provision
- It is recognised that data sharing is key in providing the evidence base through which variants of unknown significance can be better interpreted, thus providing a safer and more effective diagnostic service for patients
However, there are some differences in approach which we would specifically like to highlight. These are areas that might require sustained policy development and greater discussion, as the technologies become embedded into clinical services across Europe.