Genetic conditions: How should your DNA be used in the 100,000 Genomes Project?

The Progress Educational Trust, in partnership with Genomics England and City University, organised an evening debate on the use of data in the 100,000 Genomes Project. Held at City University's campus in London, the event gave a panel of experts the opportunity to reflect on the goals of the project and respond to questions raised by the audience.

The ambitious 100,000 Genomes Project is being undertaken by the government-owned company Genomics England and aims to sequence 100,000 whole genomes by 2017. Genomics England, through the establishment of a number of NHS Genomic Medicine Centres across England, will collect entire DNA sequences from around 75,000 patients with cancer and rare diseases.

Dr Christine Patch, genetic counsellor and manager of the Clinical Genetics department at Guy's Hospital, chaired the debate. Dr Patch is involved in a pilot scheme for the 100,000 Genomes Project and her inside knowledge and experience proved valuable during question time.

Professor Mark Caulfield, chief scientist at Genomics England, was the first to speak. He gave a brief introduction to the 100,000 Genomes Project, highlighting the significance of its contribution to the NHS. Professor Caulfield talked about the focus of the project; patients with rare genetic conditions and patients with cancer, and also mentioned a new third area of interest - patients that have a serious infectious disease. During his speech, he clarified that although the information acquired may help develop treatments in the future, the 100,000 Genomes Project is unlikely to provide cures or new treatments for the patients involved.

The second panellist to take the stand was Professor Tim Hubbard, head of bioinformatics at Genomics England. Professor Hubbard talked about the management of the data, highlighting some of the limitations that are placed on accessing the data. He mentioned that private companies will need to be commissioned at some point in order to help with the analyses, 'from a crude to a refined outcome'. However, he emphasised that the anonymised, raw data will not leave the NHS framework and only the processed results of analyses will be passed outside. He finished by stating the benefits of data sharing for global disease statistics and understanding.

The next panellist was Dr Sarah Wynn, an information officer at Unique, the Rare Chromosome Disorder Support Group. She gave a patient's perspective on the importance of receiving a genetic diagnosis. Dr Wynn, having also been involved in the Deciphering Developmental Disorders project, described the positive impact that a diagnosis has for participants, even when a treatment or solution are not available.

For Dr Wynn, how the patient or the family will receive the news of their results is really important. She raised the issue of the content of the report and the logistics of further referrals when applicable. She then wondered about those not be able to receive a diagnosis -will they be offered a second chance in the future, as the technology improves? Dr Wynn stressed the need for trained staff and bioinformaticians, as well as for public engagement, which are essential for the success of the project.

The last panellist to speak was Dr Mark Sheehan, a research fellow at the University of Oxford's Ethox Centre and Oxford Uehiro Centre for Practical Ethics. He opened his speech by saying that 'we should not get caught up by the novelty of the 100,000 Genomes Project'. Consent is a powerful procedure, he said, and questioned whether in this occasion it should be ethically different to other more traditional procedures.

According to Dr Sheehan, when we do not know what lies ahead, consent cannot cover all the possible scenarios. So, he said, we need a broad consent model, which remains valid where specific results may be unknown, such as incidental findings for instance. Dr Sheehan asked at which stage these findings will be reported, and in what circumstances will reporting become an obligation. He ended by saying that a lot of ethical consideration has taken place, but in his opinion, there is a limit to what we think is good for some people.

At this point, Dr Patch took the stand and took questions from the audience. The questions asked allowed further discussions on broad consent, children's participation, genomic education, data usage and security, transparency, disclosure of incidental findings and intellectual property rights around genomic data.

Overall, it was an excellent and stimulating evening with plenty of food for thought. I did feel a sense of worry from the audience, but this is to be expected when a project of this scale is launched. However, the panel responded to concerns with reason and emphasised that modern genomic medicine will keep the patient at the heart of all research.