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Everything you wanted to know about genomics but were afraid to ask

9 September 2019
Appeared in BioNews 1014

The field of genomic medicine has been growing rapidly over the past decade and initiatives such as the 100,000 Genomes Project, led by Genomics England in partnership with NHS England, are steadily changing the landscape of healthcare systems around the world. These developments have largely been celebrated by the scientific and medical communities, but claims that we are entering a 'genomics revolution' have the potential to cause concern and fear in the general population, where the reference point for genomics is still often science fiction films (such as Gattaca and Jurassic Park) rather than contemporary scientific research.

The Progress Educational Trust (PET) aims to improve public understanding of biomedical issues. On Wednesday 4 September, in partnership with Health Education England's Genomics Education Programme, PET brought genomics into the public domain by holding an open discussion event entitled 'Everything You Wanted to Know about Genomics but Were Afraid to Ask' at Manchester's Science and Industry Museum. This was an apt venue for the event, given that genomics is considered by some to be part of a fourth industrial revolution.

The first half of the event consisted of a series of short, informative talks by an expert panel including professionals working in the field of genomic medicine and a patient who had participated in the 100,000 Genomes Project. These talks were followed by a lively audience-led discussion, which highlighted some of the areas of confusion and unease that can surround the field of genomics.

Sarah Norcross (director of PET) and Dr Anneke Seller (head and scientific director of Health Education England's Genomics Education Programme) co-chaired the event, and opened the proceedings by describing the aims of their respective organisations and their motivation for organising the evening.

Norcross stated that 'what genomics is, what it can and can't deliver at the moment, what the future promise may be, is really not very well understood'. The importance of creating a dialogue with the public was greatly emphasised. Not only does this dialogue help to directly improve the experience of patients affected by genetic conditions by increasing their personal knowledge, but it can also indirectly improve patient experience by influencing the training that healthcare staff receive.

Each speaker drew upon their experience to address some of the typical questions that they get asked regarding their role in healthcare provision and/or research. The sequence of the talks helpfully mirrored the process by which genomic information is used in a healthcare setting, starting in the laboratory and ending with patient experience, and the diverse nature of the panel members provided the audience with a well-rounded introduction to the field of genomic medicine.

The first talk was given by Dr Simon Ramsden (consultant clinical scientist at Manchester Centre for Genomic Medicine), who considered the following three questions. What is DNA? Why is it important? And, can I read my own sequence of DNA?

Dr Ramsden successfully conveyed the complex and impressive nature of the human genome, by describing how almost every cell in the body contains two metres of DNA that has been packaged into a six micrometre nucleus, and how the information encoded in DNA can potentially cause disease, either on its own, or in conjunction with environmental factors.

The talks by Professor Jill Clayton-Smith and Elizabeth Alexander (respectively, a consultant clinical geneticist and a genetic counsellor at the Manchester Centre for Genomic Medicine) moved away from the laboratory and focused on the more clinical aspects of genomics in healthcare.

Professor Clayton-Smith explored the benefits and the disadvantages of undergoing genetic testing and made an important distinction between genetic tests that are performed in accredited diagnostic laboratories and genetic tests that are performed by direct-to-consumer companies.

In contrast, Alexander explored the impact of receiving results from a genetic test and how this can affect interpersonal relationships. Due to the shared nature of familial DNA, the results of a genetic test often have implications for the patient's wider family, and this can sometimes lead to challenging conflicts and ethical dilemmas.

The final talk was from Sabine Starr, a patient in the 100,000 Genomes project and a member of the project's Participant Panel. Starr spoke passionately about what genomics meant to her and the excitement she felt about the future of personalised medicine. This first-hand patient perspective was an important addition to the evening, as it highlighted some of the very real fears that patients have about the use and safety of their genomic data and emphasised the benefits that can be gained from engaging in research.

The audience discussion was fascinating, with a diverse array of questions submitted to the expert panel. Some questions were purely scientific – 'What is the difference between genetics and genomics?' 'Have we actually finished sequencing the human genome?' 'How do you identify a gene? Can you see it?'. Other questions were more sociological and ethical – 'Should direct-to-consumer genetic tests be regulated?', 'Can you envisage a future where we all have a genetic test?'.

One question that highlighted the dangers of not providing public engagement opportunities came from a youth worker, who consulted the panel about a fear that had been raised by the young people he worked with. They had apparently become anxious, following an episode of the TV series 'Designated Survivor', about the potential for genetic information to be exploited to create biological weapons that target specific racial groups. The panel tried to allay these particular fears, disentangling science fact from science fiction and genomics from eugenics.

As someone who works for the NHS, I was also interested in a question about whether the NHS is being financially affected by the rise of direct-to-consumer genetic testing. It appears that this is currently a challenging area for genomic medicine centres. Clinicians are having to respond in a selective manner to requests for support following unexpected direct-to-consumer genetic test results, which potentially creates a pool of patients that have received concerning test results but do not have access to resources that can help them understand this information.

Overall, this was a highly enjoyable and informative event that highlighted that great need for more public education regarding the benefits and limitations of genomic medicine.

PET is grateful to its partners - Health Education England and its Genomics Education Programme - for collaborating on this event.

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