Realising genomics

31 October 2016

Realising Genomics in Clinical Practice highlights the ethical, legal, social and practical issues that need to be addressed to ensure that clinical implementation of genomic sequencing to improve patient care is as effective, efficient and responsible as possible.

The Realising Genomics project focused on the ethical, legal, social (ELSI) and practical challenges arising from the use of DNA sequencing and analysis in health care - gene panel testing, whole exome and whole genome sequencing. Whole genome sequencing forms the basis of the UK’s 100,000 Genomes Project which seeks to harness its potential to advance knowledge and ultimately improve health.

There is a risk that medicine could be driven by the technology; the Realising Genomics report is of huge value because it reminds us of the importance of thinking carefully about the clinical benefits and possible risks of genome sequencing.

Prof Frances Flinter
Consultant in Clinical Genetics & Caldicott Guardian, Guy’s & St Thomas’ NHS Foundation Trust

Built on multidisciplinary research, stakeholder workshops and expert analysis, the Realising Genomics report makes 25 policy recommendations for implementing genomic technologies in health systems to maximise health benefits and minimise potential harms for patients.

Key messages

• Targeted forms of analysis using gene lists should be used as a first-line approach since this is a more effective way of obtaining a diagnosis and reduces the scale of unexpected or uncertain findings generated from current and potential genomic analysis 

• Enhanced consent processes need to be adopted to facilitate patients’ understanding of the implications of these findings for themselves and their families, and allow patients to indicate whether they wish to receive unexpected findings which may have clinical benefit 
• Experts should agree standardised criteria for clinical referrals, evidence and analysis to support equitable, high-quality diagnostic services
• Results should be communicated effectively to geneticists, non-geneticist clinicians and patients
• Health services need mandatory data deposition in a secure, comprehensive and accessible genomic / clinical database, effective commissioning and evaluation systems, and ongoing ELSI research
• Developing and maintaining public trust and confidence is vital to maximise long-term health benefits