Genomics – from the classroom to mainstream patient care

I clearly remember the drawing of a cell division (mitosis) in a school notebook from my first year at secondary school. I was fascinated by how the genetic material had to be replicated and then so carefully divided equally between two daughter cells. The same passion and curiosity accompanied me through my medical degree, when my enthusiasm for the genetics of bacteria encountered very perplexed expressions from my classmates. Nobody would have predicted then that genetic variants causing different viral strains would have become a matter of such widespread debate during one of the biggest health crises of a century.  Genomics (the study of the complete set of genetic information in an organism) has developed at an unprecedented pace over recent years and is now shaping the care of an increasing number of patients.

As a consultant in Clinical Genetics, I trained to recognise rare genetic conditions, which lead to multiple medical problems. When I started in the field over 20 years ago, we were still in the process of sequencing the first human genome and were only aware of the genetic causes of a handful of rare diseases. This, combined with the very limited testing options available, meant that most of the patients we saw remained undiagnosed. This prevented them and their family from accessing detailed information on the underlying condition and the relevant preventative strategies. A diagnosis often secures better access to social support, and provides a sense of belonging often strengthened by support groups, which therefore also wasn’t often available to these patients.

Genomic medicine is bringing the promise of personalised medicine to life.

Although many people with rare genetic conditions are still awaiting diagnosis, the identification of additional genetic variants that cause conditions and the growth in clinical expertise means that the number of undiagnosed patients is becoming smaller and smaller with time. Similarly, with the incredible improvement in testing technology, the timeframe for reaching a diagnosis has reduced very significantly; the NHS now makes rapid extensive testing available for children who are acutely unwell when their management can be modified by a specific diagnosis, with test results often delivered in around 2 weeks.

Alongside this unprecedented diagnostic potential, genomic medicine is bringing the promise of personalised medicine to life. The identification of rare genetic variants that predispose people to certain cancers can now impact how we monitor for and treat the cancer if it arises. Similarly, understanding the genetic changes that have taken place in the cancer cells of a patient can inform the most successful treatments and pharmacogenomics (the study of how genes affect a person’s response to drugs) can help prevent serious side effects of a medication or help determine the optimal dose of a drug for each individual.

This rate of progress comes with challenges. Creating a consistent and robust framework for initiating genetic testing and interpreting results requires the contribution of multi-professional teams and new ways of working; there is a risk of variation in approach in different geographical areas; and there is a risk of over (or under) interpretation of genetic variants to the detriment of patient care.

The National Genomic Medicine Service, created in 2018 and underpinned by seven laboratories (Genomic Laboratory Hubs, or GLHs) across England was a first step in meeting this challenge. These GLHs operate to common standards across the country, offering consistent and accessible testing for many rare conditions and cancers, as defined in a national genomic test directory. Now, the creation of seven Genomic Medicine Alliances across England from the start of 2021 seeks to support systematic implementation of genomic medicine into the mainstream healthcare system.

As the Clinical Director of the North Thames Genomic Medicine Service Alliance, hosted by UCLPartners and supported by Imperial College Health Partners, I feel privileged and very excited by the opportunity of leading its multi-professional team. Our aim is to work with all healthcare providers, patients and the public across our large geography spanning north and central London and parts of Essex and Hertfordshire, to build trust in genomics and support the multi-professional workforce to use genomics safely, effectively and efficiently.  By embedding genomics into the mainstream health service, our aim is to deliver improvements for patients including better, quicker diagnosis of rare conditions, personalising treatment and care for those with inherited conditions and cancer, and building a better understanding of the underlying cause of many conditions.

As members of the Alliance, we can embrace the unique opportunity to build on the extraordinary expertise in genomics in our region to operate collaboratively across a large geography. The identification of streamlined pathways involving the entire workforce, the recognition of areas of unmet needs and inequalities, and facilitated access to research will help embed genomics into the care of every patient who could benefit from it. As we work towards delivering this vision, we need to make sure that we build and maintain public trust in genomics, and that the voices of patients determine how we shape the pathways moving forward.

As our knowledge of the human genome continues to grow, and our ability to act on this information to improve the care we provide to patients evolves, genomic medicine will have an increased relevance to the multi-professional NHS workforce. I’m excited to be part of the clinical community who is witnessing the transition to more personalised care, and hope the North Thames GMS Alliance can support our teams and communities to feel comfortable applying these advances.

Find out more about North Thames Genomic Medicine Service (GMS) Alliance