Intended for healthcare professionals

Rapid response to:

Feature

Genomics—an aid to diagnosis not a replacement

BMJ 2018; 360 doi: https://doi.org/10.1136/bmj.k1267 (Published 23 March 2018) Cite this as: BMJ 2018;360:k1267

Rapid Response:

Genomic Medicine: improving access, changing hearts and minds

Genomics in medicine has the potential to revolutionise patient care, although it is not the panacea that the Mr Hunt allegedly once described. There will always the be the need for clinical acumen, and conventional diagnosis is here to stay.

Having said that, utilising genomics as an adjunct to diagnosis and management will increasingly become more important and indeed essential, if we are to realise the goal of personalised or stratified medicine.

However, as the author has rightly pointed out, one of the biggest challenges we face as a profession, getting clinicians at all levels conversant in the ‘language’ of genetics and genomics. As clinicians, we need a greater understanding of the limitations of sequencing technology, and an awareness of basic bioinformatic principles, to help us, as clinicians, to critically appraise studies with genomic ‘big data’. Without these foundations, clinicians will find it difficult to apply genomics to there daily practice. Whilst current education programmes and initiatives are indeed helpful, more needs to be done in terms of CPD, particularly to those devolved nations of the UK who do not have access to Genomics Education Programme, run by Health Education England.

Possibly the biggest challenge to overcome, is the need to persuade our peers that far from being an esoteric subject, genomic medicine is accessible, and has the potential to improve patient outcomes in all medical and surgical specialties.

Competing interests: No competing interests

03 April 2018
Russell W Hathway
Specialty Doctor in Oral & Maxillofacial Surgery
Department of Oral & Maxillofacial Surgery, Morriston Hospital
Morriston Hospital, Heol Maes Eglwys, Morriston, Swansea SA6 6NL