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Medical Genetics Awareness Week: exploring the past present and future of medical genetics

Medical Genetics Awareness Week

In celebration of Medical Genetics Awareness Week and to raise awareness for those that work in the field, we interviewed Dr Charles Steward, Patient Advocacy and Engagement Lead at Congenica, to find out what attracted him to genomics in the first place, what it is like to work on the cutting edge of life-sciences and what excites him most about the future of medical genetics.

What first drew you to work in medical genetics?

I have spent my whole career working on the human genome, but it was my daughter’s struggle with a catastrophic form of epilepsy called West syndrome that made me move into medical genetics. I was curious to learn more about how the genome can be responsible for such devastating disorders so invited scientists and clinicians to work with me and look more closely at epilepsy-associated genes in the human genome than had been done previously.

We were able to find molecular diagnoses for patients who had previously undergone genomic sequencing that had missed the causative variant. I was intrigued and, wanting to get closer to the patient, moved to Congenica where I am the company’s lead for patient advocacy and engagement.

What surprises you most about your journey into medical genetics?

A pleasant surprise, but the genuine warmth and passion of everyone (clinicians, academics, bioinformaticians etc) who works in the field and that we put the patient at the centre of everything we do.

What is the biggest change in medical genetics that you’ve seen in your time working in the field? 

The phenomenal reduction in turn-around times from blood sample to report. Whereas many previous research projects took years to get a diagnosis back to a patient, we are now looking at turn-around times of weeks, days or even hours. Although such turn-around times have only been achieved by a tiny number of groups, it shows what is possible in the near future.

How have apparent failures in the field set it up for later success?

Once we finished the human genome in 2003, I think many people believed it was the holy grail for healthcare and that we would be able to solve many health problems through genomic techniques in a very short time. But many of the promises, for example to the pharma industry, were not forthcoming. It became increasingly clear that finishing the human genome was really only the first step in facilitating medical genetics into the clinic. We are now able to understand why some people react better to certain drugs as a result of their genetic makeup, what we refer to as pharmacogenomics. This makes us very confident about how, for example, pharma and genomics can help each other in the future.

What are the biggest challenges facing clinical scientists working in genetics today?

The ability to interpret variants and get from data to report as quickly as possible, whilst still ensuring confidence in a diagnosis. This is how companies like Congenica are having a massive impact, by providing a system to filter out the many millions of non-disease causing variants we have in respect to each other and identifying the pathogenic variants as efficiently and as accurately as possible.

What is the thing you wish people knew more about?

The importance of a diagnosis to the patient and family. Some clinicians ask what the point of a genetic diagnosis is when there is nothing you can do to change the disease outcome. Well, in some cases there are targeted treatments available for some genetic diseases. For example, pyridoxine-dependent epilepsy is caused by mutations in ALDHA7, but can be successfully treated with vitamin B6 (pyridoxine). While it is true that the number of gene-specific therapies is currently very small, the potential for future genomic-based therapies is huge and we are already seeing such innovative therapies being developed. Even without any specific treatment, having a diagnosis can be key in accessing effective medical and social care, while it can also help inform family planning. Lastly, it is important for psychological reasons such as closure and relieving parental guilt.

What support networks are there? (professional bodies etc)

There are many patients support groups providing an essential service for patients, their families and carers. In fact, many patients or parents have set up disease-specific groups that enable them to find similar families all around the world. Such groups have enormous influence in the medical genetics space by interacting with pharma groups for specific therapies, fund-raising for research and educating and raising awareness of their disorder.

For patients where a diagnosis can’t yet be made, there are still support groups out there that help them gain access to the support they need, for example the Syndromes Without a Name (SWAN) organisation.

Increasingly, national genomics programs have also been involving patients more, gathering their input throughout the course of the project. The Genomics England 100,000 Genomes Project has formed a Patient Participant Panel group who are involved in all aspects of the project so that ultimately, the patients drive the project forward for their own benefit. In my mind this is absolutely the right thing to be doing – the patient must always be at the center of such projects.

What impact could medical genetics have if it were easy? 

It would be much more likely to be available to anyone across the globe, making healthcare much cheaper and therefore more equitable. It would also mean that many more people would be able to diagnose patients therefore increasing our knowledge of disease better, while also speeding up time to diagnosis. Ultimately this could change a patient’s prognosis through faster and personalised interventions based upon their genome.

What would it take to make it easy?

Many things would make it easier, but driving down costs of analysis and making such analysis automated is making a huge difference. There are only a limited number of people able to interpret genomic data so being able to be confident in automated analysis and interpretation is an enormous benefit. Analysing many more genomes would allow us to identify many rarer pathogenic variants, which in turn would help us to diagnose many more patients.

What recent advances in medical genetics are you the most excited about? Why?

Long-read technology. This will allow us to look at very large changes in patient genomes that current short-read technology is not able to resolve. Also the inclusion of other omics data into patient analysis, such as the transcriptome. This means we would be able to observe whether a gene is being expressed too much or too little.

I also think the gene-based therapies such as antisense oligonucleotide treatment, have great and immediate potential, such as recently reported in animal models for epilepsy.

What do you think will become increasingly important in the medical genetics field in the next few years? 

Quicker adoption of clinical decision support technologies to enable much quicker turnaround of patient samples, and getting results to patients in less than one month as the regular standard of care, while achieving a much higher diagnostic yield for children with genomic disorders.

Dr Charles Steward. Patient Advocacy and Engagement Lead

Congenica

Dr Charles Steward is the Patient Advocacy and Engagement Lead at Congenica. He has more than 26 years’ experience working with the human genome on the Wellcome Genome Campus, Cambridge UK. He spent 22 years at the Wellcome Sanger Institute, which is where he did his PhD and led the initial gene analysis for human chromosome 10. As a result of his daughter suffering from a catastrophic form of epilepsy called West syndrome, he established an international collaboration to reinvestigate the structure of epilepsy-associated genes and their transcript structures. Dr Steward has led the Congenica epilepsy initiative since 2016, which has included collaborations with Epilepsy Society and RCSI, Dublin. Dr Steward has over 16 years’ international teaching experience with the Wellcome Trust and lectures on the Genomic Medicine Masters’ degree course for the NHS at King’s College London and the University of Cambridge.

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