Naked Genetics, 14 March 20312
Presented by Dr Kat Arney
In 2003 the first complete map of the human genome was unveiled and the world was promised a genomics-led revolution in medical science. In spite of this, it was only two years ago that the 100,000 Genomes Project was launched in the UK to sequence 100,000 genomes from NHS patients by 2017, aiming to finally bring the predicted benefits of genomics to NHS patients.
The reduced costs and increased speed of sequencing genomes have meant the hopeful dreams of personalised medicine may one day soon become a reality. However the underlying question remains - is the public ready for it?
This podcast by The Naked Scientists focused on addressing that specific question. By interviewing professionals in the field, including two speakers at a Progress Educational Trust (PET) event on the use of DNA in the 100,000 Genomes Project (see BioNews 779), it attempts to resolve some of the practical and ethical issues surrounding the project - and also how the scientists involved are attempting to tackle them.
Having only recently been introduced to the world of podcasts, I hadn't heard of the Naked Scientists and I was very relieved to find that the only thing that was exposed in their podcasts was the stripped-back accessible science. The podcast itself consisted of interviews interspersed with segments covering genetic research news and 'gene of the month'.
At first glance, what I liked about the podcast was the broad range of interviewees. Even if the Chief Scientist of Genomics England, Professor Mark Caulfield, was fixated on promoting the project, having the more patient-minded perspectives of Dr Sarah Wynn from Unique, a rare chromosome support group, and Dr Anna Middleton, a genetic counsellor from the Wellcome Trust Sanger Institute in Cambridge, left me feeling I would get a fair overview of the ethical issues surrounding the project.
One of the key ethical issues discussed at length is the ownership and sharing of collated data, a topic that is especially important given the recent announcement of a collaboration between Genomics England and industry (appeared in BioNews 796).
Although a genome is just a sequence of letters, it can hold a wealth of personal information and there is therefore an ethical dilemma regarding how much of this knowledge is fed back to the patients. Whilst Dr Wynn and Professor Caulfield both agreed that the decision should be the personal choice of the patients, Genomics England has already outlined a limited list of medical information they will feed back, seemingly taking some of that choice out of their hands. Also, the idea that a pharmaceutical company could know more about your predisposition to disease than you do could be unsettling for those involved.
The solution to these ethical dilemmas? According to the interviewees, it's making sure that patients are well informed. This is highlighted throughout the podcast, whether it is the importance of patient consent to share the information with other companies, or the basic understanding of what patients might achieve from their involvement and what having a genetic risk means.
Whilst Professor Caulfield addresses Genomics England's direct work in patient and public engagement, his vagueness regarding projects ('and through our public engagement team, we'll have a number of public engagement events') is slightly underwhelming considering the agreed importance of awareness.
Luckily the final speaker, Dr Middleton, does offer some hope, speaking out about how we can bring forward public discussions on genomics and the ethics related to these new mass-sequencing approaches. She introduces her own research, the GenomEthics study, a large-scale survey reaching 7,000 people from 75 countries so far, aiming to understand the opinions of the public on what they would want to achieve from genome sequencing.
However, it is a worry that all this ethical research is a little too late now that sequencing for the project has already started. In fact, Dr Middleton seems to agree, concluding that we are currently at a point 'where the science is moving so fast and it's going to be implemented in clinics so quickly, but the public aren't really there with it'. Unfortunately, it also seems the turn-around in public awareness won't be any time soon either, as she admits there is still a long way to go to turn genomics 'from something that's currently quite anti-social into something that's quite social'.
Overall, this podcast isn't for those who are looking for an education in genome sequencing or what the 100,000 Genomes Project is or does. Apart from the initial introductions, it lacks a description of the science behind or the logistics of the project. What it offers instead is the opportunity to question the ethics of this new genome-sequencing approach to medicine and our efforts as scientists, medics or just genetics enthusiasts to engage with the public and get them on board.