Genomics

What is genomics?

Genomics is the study of an organism’s genome – its DNA – and how that information is applied. 

The human genome has around 20,000 coding genes that contain the information to build and repair our bodies. Some determine physical characteristics such as eye colour while others determine our likelihood of developing certain conditions. 

With recent advances in modern computing, it has been possible to code an entire human genome (three billion letters or nearly 200GB) in a matter of hours. This opens up the possibility of using this information to explore predictions of ill health. And that brings opportunities for the identification and accurate diagnosis of rare and infectious diseases and cancers, as well as the early prevention and even eradication of some conditions. 

These advances have led to a growing world of personalised healthcare.

Why is genomics important?

Personalised healthcare has the potential to give significant benefits to the patient and provide huge cost savings in healthcare and other sectors such as employment and welfare. 

However, there is considerable risk in overstating the ability of genomics to lead to the prevention of disease and personalisation of treatment. There needs to be a balance between hope and honesty in what can be realistically delivered.

Will physiotherapists be involved?

As a physiotherapist, you are unlikely to be directly involved in the assessment, ordering, analysis or delivery of genome testing. You are, however, likely to be involved in the healthcare of some of those undergoing these tests. 

With our privileged place of trust in the therapeutic relationship, patients may ask questions about the process. Therefore, if you work with this patient group then may wish to learn more. 

It could be that further advances in genomics open up new roles for physiotherapists. It is also likely that, as things progress, the way we manage certain long-term conditions will change, so it is important for the profession to stay in touch with the genomics agenda in the UK and internationally.  

The CSP is committed to doing this through the Genomics Clinical Champions Group, co-hosted by Health Education England (HEE) and the Academy of Medical Royal Colleges (AOMRC).

What is happening elsewhere?

The UK government has committed to sequencing five million human genomes by 2023 following initial success in Genomics England’s 100,000 Genomes project. 

The AOMRC is working alongside HEE to develop standards to maximise benefit and minimise risk. These standards are summarised below.

Equity 

Equity of access to testing and screening based on clinical need across all regions and localities and to all members of society. 

Evidence-based healthcare 

Genomic medicine should be based on sound evidence of clinical benefit. Demonstration of clinical validity and utility is required before genomic tests are adopted by the NHS. Without this, use of such tests should be a research endeavour.

Safety 

Tests should be deployed only once they have been evaluated in the population and context in which they are to be used.

Consent 

Genomic medicine challenges our current understanding of consent for medical treatment. Therefore, education of clinicians and patients is required on specific diseases, as well as the evolving nature and possible implications of genetic testing now and in the future.

Research 

Investment in high-quality research is a high priority to understand the many factors that influence genomic medicine and to innovate new treatments.

Patient and public engagement 

It is essential to engage with diverse groups of the public. Transparency about data access/usage and industry involvement is paramount in building trustworthiness.

IT and connectivity 

This requires fit-for-purpose IT and informatics, and ready access to supporting information for clinicians and patients.

Quality and appropriateness 

Currently, the quality of individual genome sequences is far from perfect and further innovations in sequencing technology and data interpretation are required. As with all investigations, genomic tests should be used where clinically appropriate.

Training resources 

The ability to develop genomic medicine in the NHS is dependent on adequate training for relevant health professionals and graduates and adequate resourcing of appropriately skilled personnel.

Setting priorities to support primary providers 

To ensure equitable decisions about recommended tests and access within all regions, the medical royal colleges and other professional bodies will determine priorities for testing based on peer review and inclusive input from members.

A dynamic test directory, as well as pathways and guidelines, is being developed by the AOMRC alongside HEE and Genomics England. Delegations from the other home nations are involved in these discussions and will publish nation-specific information when available. 

Authors:

• Euan McComiskie
• Ben Wanless

Edited by Daniel Allen