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Genomic medicine needs you - do you need genomic medicine?

20 October 2014
Appeared in BioNews 776

The 100,000 Genomes Project aims to sequence 100,000 whole genomes from around 75,000 participants with cancer or rare diseases by 2017. This event, organised by the Progress Educational Trust in partnership with Genomics England, gave the public an opportunity to find out more about the initiative and put their questions to a panel of experts.

The panellists all gave their unique take on the project from personal, ethical and business perspectives. With only a few minutes to explain their chosen angle there was only time for each panellist to identify a few key points. The audience then had plenty of time to ask any questions about the initiative, leading to lively discussion about the points raised.

Sir John Chisholm, chair of Genomics England, was the first panellist to speak and highlighted the key aspects of the programme. The project has been made possible by huge scientific advances since the programme was announced in late 2012; the cost of sequencing a genome has fallen from around £6,000 for a single genome to £80 million for 100,000 genomes. Sir John believes that it will 'transform the human experience over the next 20 years'.

Next, Richard Stephens gave an emotive insight into the project from a patient's perspective. As a survivor of two cancers and a heart emergency he has participated in clinical trials and research studies. In his experience the questions that most cancer patients ask are: 'Why this? Why me?' He is optimistic that cancer patients will be open to being included in the project due to the hope of finding answers to these questions.

The third panellist was Professor Michael Parker, a professor of bioethics and director of the Ethox Centre at the University of Oxford. He covered some of the key ethical questions that may arise due to the nature of genetic information. Importantly, he highlighted that Genomics England has built ethics into the framework from the beginning, meaning that issues such as consent and data access have already been given a lot of consideration.

Dr Simon Woods, co-director of Newcastle University's Policy, Ethics and Life Sciences Centre, agreed with Professor Parker that careful ethical consideration had been given to the project. One interesting point was what will happen to other findings from sequencing an individual's genome, for example finding a pre-disposition to a disease such as a BRCA1/2 mutation. He explained that all participants will have feedback on any pathogenic mutations relevant to their condition.

Where it became less clear is what Dr Woods called 'secondary findings'. This is where gene variants have been identified that are known to cause certain conditions unrelated to the patient's existing condition. Participants will be told if they have a mutation linked to certain pre-determined conditions, but how these conditions were chosen was unclear. One of the other interesting points was what will happen with 'incidental findings'. These are findings that are not linked to a specific condition but might have other implications. Since many of the rare disease participants will be from the same family (often children and their parents) the project has the potential to unearth issues such as non-paternity. It will be interesting to see how this type of information will be handled.

After the panellists had spoken it was the turn of the audience to ask their questions. Many of the questions asked were about the ethics of the project, the security of the data and the long-term sustainability of a project that could eventually be rolled out across the NHS. For me, one of the most interesting points was around consent and whether someone who is desperately ill can really give informed consent. Richard Stephens believed that it wasn't possible and I agree that this is an area that will need careful thought.

I definitely came away from the event more informed and with plenty of food for thought. It is clear that this project has the potential to answer lots of questions about the causes of rare diseases and cancers, and that lots of thought has been given to the security of the data and the many ethical considerations that will arise. I will be following the findings with much interest and will wait to see if, as Sir John put it: 'The world will look entirely different in the next 25 years.'

The Progress Educational Trust and Genomics England are organising a follow-up event - 'Genetic Conditions: How Should Your DNA Be Used in the 100,000 Genomes Project?' - at City University London on the evening of Thursday 6 November.

Attendance is free, but advance booking is required. Find out more here.

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