This is a critical era for genomic medicine; major research initiatives such as the 100,000 Genomes Project are laying the groundwork for a future where a comprehensive understanding of genomics in health and disease will underpin better disease prediction, prevention, diagnosis and management. However, our preparations and actions now will also make a major difference to the short and medium term medical benefits for UK citizens offered by genomics.

In our response to the House of Commons Science and Technology Committee's* inquiry into genomics and genome editing we argue that policy supporting  genomics in healthcare should  be considered in the context of simultaneous scientific and societal developments, not least a changing role for individual citizens in maintaining their own health. This means taking into account issues such as the future need to integrate complex genomic data alongside other ‘big data’, derived both from within the NHS and from external sources, in informing and directing healthcare.

Executive summary

  • Genomics could improve disease prediction, prevention, diagnosis and treatment
  • The full potential of genomics to improve health undoubtedly lies some way in the future, but actions now can ensure that UK citizens gain maximal short- and mid-term health benefits from genomics
  • Making the most of infectious disease genomics offers clear and rapid health gains
  • Ensuring that the 100,000 Genomes Project offers widespread clinical benefits requires evaluation of clinical impact, and attention to issues of NHS data sharing; health professional engagement and education; and funding for genomic testing
Read the full consultation here

*Following submission of this consultation response, PHG Foundation were invited to give evidence to the Science and Technology Committee inquiry on genomics and genome editing at their oral evidence session on 8 March