Genomics and Respiratory Medicine

Advances in genomic medicine and the promotion of genomic knowledge and its integration into educational programmes and clinical practice will have implcations for all specialties including respiratory.  In particular the 100,000 Genomes project aims to create a new genomics medicine service for the NHS.

Brief background information on genomic medicine for those working in the respiratory specialty is provided here. 

Why the NHS has embraced Genomics?

Medicine is moving from disease-based approaches, where trials of thousands of individuals are used to identify best practice, to a personalised, tailored approach for each patient.  Personalised medicine will provide patients with better opportunities for diagnosis and treatment, reducing diagnostic delays, and avoiding unnecessary and potentially harmful investigations or treatment side effects.

What are the opportunities?

Genomics offers the clearest route to date to tailor pathways to best suit the individual. Genomics refers to the analysis of DNA - not just the 20,000 or so genes, but all of the other regulatory and even non coding regions within DNA (“the genome”). This may be the DNA from an individual that they inherited from their parents, DNA that has undergone changes in developing into a cancer for example, or the DNA of a microorganism causing important infection.  Such DNA influences and sometimes determines precise pathophysiology.  Increasingly, identifying minor differences in the DNA sequence allows us to identify which exact pathology is present, and why; which treatments might have greatest impact; and which drugs are more likely to cause harm for that particular individual. Sequencing the whole genome provides the required blueprint at a realistic cost, and is predicted not only to offer substantial benefits to patients, but also, to be overall cost-saving for the NHS.

Relevance to Respiratory Medicine

Many respiratory patients are potentially eligible to have Whole Genome Sequencing (through the 100,000 Genomes Project) as a prelude to improved personalised care in the future. This is available to those without a known molecular diagnosis‡, in key groups:

  1. Bronchiectasis (if more than one case in immediate family*, multilobe disease, and not attributable to other infective or respiratory pathology)
  2. Primary ciliary dyskinesia
  3. Idiopathic pulmonary fibrosis (if more than one case in immediate family*, no cystic disease, and no other respiratory disease present)
  4. Familial Primary Spontaneous Pneumothorax (if more than one case in family)
  5. Pulmonary arteriovenous malformations (if multiple, more than one case in family, and/or underlying hereditary haemorrhagic telangiectasia (HHT)
  6. Severe multi- system atopic disease (if high IgE, >5,000 IU/mL)
  7. Sleep apnea patients (if inherited sleep disorders or syndromic causes of obesity);
  8. 8.       Patients with chronic respiratory failure (ifdue to neuromuscular disease or thoracic dystrophies);
  9. Immunodeficiency (specified B cell, T cell, granulocyte, neutrophil and/or complement deficiencies).

‡i.e., the causative gene should not be already known in the family

*First degree relative, i. e.  parent, brother, sister or child


What next?

Review the eligibility criteria for the 100,000 Genome project

Contact the local Genomics Medicine Centre

Find out more  - read the Respiratory Medicine and Genomics briefing paper