Being an unashamed enthusiast for genetics and genomics research and its potential to improve human health, I was delighted when an email announcing the unveiling of the Personal Genome Project (PGP) UK pilot study arrived in my inbox. The event, held on 12 April at University College London, also launched the project's GenoME app and was rounded off with music inspired by the project, written by Trinity Laban professor of composition Deirdre Gribbin and performed by the Benyounes Quartet.
According to their website, PGP-UK is 'dedicated to creating public UK genome, health, and trait data'. Like other partners in the Global Network of Personal Genome Projects, PGP-UK is a citizen science initiative that invites anyone over the age of 21 to consider donating their genomic and other biological data for use in scientific research. So its aims and ethos are very different to those of projects such as the UK's 100,000 Genomes Project, which is recruiting families affected by rare genetic diseases and individuals living with cancer.
A recent public debate organised by Progress Educational Trust also put human genomics research into the spotlight. Putting Your Genome to Work: For the NHS, for Industry, for the UK Post-Brexit examined the potential risks and benefits of allowing public and private sector scientists to work with genomic data to improve health.
Given the recent furore over personal information collected by Facebook and other social media platforms, it was perhaps not surprising that some audience members at the debate voiced concerns over possible misuse of genome sequence data. But others expressed the opinion that if people wish, they should be able to freely share their genomic data with medical researchers.
Such altruism was clearly a common motivator for all the 'ambassadors' who spoke at the PGP-UK event. But they gave a variety of other reasons too. For example, Momodou Semega-Janneh felt it was important that people from different ethnicities take part, so that everyone eventually benefits from advances in genomic science. Momodou also wanted to learn more about his ancestry, being from a Nomadic family that has moved around West and North Africa. According to his genome he is 92 percent African and 8 percent Spanish, he said.
All the PGP-UK ambassadors waived their anonymity in order to share their data publicly. PGP-UK director Stephan Beck has himself donated his biological data to the database. He felt he should be the first participant to get his genome sequenced to 'check everything was working'. He revealed that his genome contains over 4.1 million variants, or points at which his DNA sequence differs to the reference human genome. Around 2.5 percent of these variants appear to be unique to Stephan and his family, while the remainder are 'known' variants. These proportions are very similar in all the genomes examined so far, he said.
In addition to complete genome sequences, PGP-UK is collecting epigenomic datasets for all participants. This allows researchers to study epigenetic changes – chemical modifications to DNA that don't affect the actual sequence – that occur during a person's lifetime in response to different environmental and lifestyle factors. All participants find out if they have an epigenetic signature associated with smoking, for example. For ex-smoker Colin Smith, another of the ambassadors, the epigenetic prediction that he is a non-smoker was very welcome news. You can read more about the findings for all the ambassadors on the Personal Genome Project UK blog.
Two musical compositions inspired by genetic information, performed by the talented Benyounes string quartet, provided a very enjoyable and uplifting finale to the evening. Composer Deirdre Gribbin and her family were in the audience to hear the world premiere of GenoME, a piece based on the genetic variation present in the eye colour genes of the PGP-UK ambassadors. This was followed by her earlier work, 'Hearing your genes evolve', which explored themes of replication accompanied by gradual change.
Both the music and the ambassadors' genetic information can be explored via the free GenoME app, developed by Vincent Harding from UCL Health Creatives and available to download from the Apple Store.
Keen to investigate how I might participate in the PGP-UK myself, I visited the project's website – only to read that that it has 'temporarily paused the enrolment to focus our limited resources on the first 1000 volunteers'. So it seems that people like myself – who are interested in contributing genome data to medical science in the same way we might donate blood – will have to wait a little longer.