A newcomer’s takeaways from the Genomics Healthcare Summit

E-learning designer Jakob Whitfield offers two personal takeaways from NHS England’s 2023 summit on genomics in healthcare

As a new member of the National Genomics Education programme, a couple of weeks ago I attended NHS England’s Genomics Healthcare Summit to get a fuller picture of the genomics landscape in the NHS. My speciality is e-learning design, not genomics, so I was slightly apprehensive about whether I’d find it hard going. But what I took away from the day was undoubtedly positive.

The past five years have seen an increase in the use of genomic sequencing in every area of healthcare. Genomics ‘mainstreaming’ was on everyone’s lips, and from the many brilliant talks on the day, two projects stood out to me as exemplifying the promise and the challenges of genomics mainstreaming:

1. Offering genomic testing after sudden unexplained deaths

The first was a joint project between the NHS and coroner services to investigate sudden unexplained deaths. One of the major causes of such deaths in people under the age of 60 is an undiagnosed heart condition. Such conditions are often genetic, so family members may also be at risk. The project aims to carry out genomic testing of people who have died suddenly and where a genetic heart condition is suspected. If a genetic cause is confirmed, relatives will be offered testing (this is called ‘cascade testing’) to see if they are also at risk. If they are, they may be offered preventative treatment or other monitoring. There isn’t anything particularly radical about the technology, but it’s a life-changing example of joining up separate systems and introducing genomic testing into an organisation that hasn’t previously used the technology.

2. Reducing adverse drug reactions through pharmacogenomics

The second highlight is the promise of pharmacogenomics, which is the field that investigates the use of genomic information to tailor drug treatment to an individual. This talk started with some shocking statistics: the NHS spends about £17 billion a year on medicines, but somewhere between 30%–60% of medicines prescribed are either ineffective or have serious adverse effects. Roughly 1 in 15 NHS hospital admissions are due to an adverse reaction to medicine. Individual responses to drugs often have a basis in their genome; as the cost of genomic testing falls, it makes sense to test patients before starting their treatment to see what will be most effective for them.

Speakers also emphasized the importance of researching diverse populations. Current tests use a panel of genes covering the most common or serious pharmacogenomic interactions. However, these gene panels have historically been based on data from populations with northern European ancestry, which may miss gene variants that are important in other populations.

An online academy for genomics training

As genomics is mainstreamed into healthcare systems, and genomic testing becomes routine, the NHS will need to expand its specialist genomics workforce to provide sufficient testing capacity. That’s where my department of the National Genomics Education programme comes in: the Genomics Training Academy (GTAC).

Currently, much of the training for the genomics workforce happens in labs and on the job. Time spent training, while necessary, is time that usually can’t be spent on testing. By harnessing the benefits of remote and hybrid learning as well as innovative technologies such as virtual reality, GTAC aims to reduce that training load. It will use high-quality instruction to upskill the genomics workforce more efficiently – all with the ultimate goal in mind: to unlock the potential of genomic technologies to improve everyday healthcare in the NHS.

Please note: This article is for informational or educational purposes, and does not substitute professional medical advice.