Realising Genomics in Clinical Practice

5 December 2014

Authors: Alison Hall, Tom Finnegan, Corinna Alberg

Fast paced development and declining costs of genomic sequencing technologies mean that the NHS is introducing new genomic sequencing diagnostic tests, including expanded next generation sequencing (NGS) gene panels, whole exome sequencing (WES) and ultimately, whole genome sequencing (WGS). Together, these applications have the potential to revolutionise the diagnosis and treatment of many diseases, particularly inherited diseases and cancers. 

It is clear that genomics will play a very important role in the future of healthcare, underlined by major UK and international initiatives in genome sequencing and health. The Realising Genomics report is very timely because we need careful thought on how we take things forward in order to make the most of the opportunities and benefits for patients.

Prof Michael Parker
Chair of Genomics England ethics committee and Director of Ethox Centre, University of Oxford

The Realising Genomics report is intended to inform the ethical clinical implementation of these genomic technologies. The report draws on research and the views of stakeholders who participated in five expert workshops and identifies the broad range of ethical, legal, social and practical issues that will arise from using NGS technologies. It addresses these challenges by proposing a comprehensive set of recommendations for implementing these technologies in ways that improve healthcare while minimising potential harms, falling into five key areas of ethical practice:

  • Rationale and mechanism for targeting genomic analysis 
  • Ways in which patient consent processes should be enhanced 
  • Strengthening the scientific and clinical evidence base 
  • Increasing the effectiveness of data sharing and reporting 
  • Wider contextual issues including requirements for education, cost-effectiveness analysis and commissioning mechanisms 

Realising Genomics in Clinical Practice 

Realising Genomics in Clinical Practice: Executive Summary 

How to reference this report: Realising Genomics in Clinical Practice. Hall A, Finnegan T, Alberg C. PHG Foundation (2014). ISBN 978-1-907198-15-1.

For further information about the report, please contact Dr Philippa Brice.

Media enquiries please contact the PHG Foundation press office on 07505092081.