I am proud to say that I am officially enrolled in the Personal Genome Project UK (PGP-UK). PGP-UK is affiliated to the original PGP, based in the US. PGP aims to sequence and publicise the complete genomes and medical records of 100,000 volunteers, in order to enable research into personal genomics and personalised medicine.
The project will publish the genotype (the full DNA sequence of all 46 chromosomes) of the volunteers, along with extensive information about their phenotype: medical records, various measurements, MRI images, etc. All data will be placed within the public domain and made available over the Internet so that researchers can test various hypotheses about the relationships among genotype, environment and phenotype.
My public profile is available and has an identifier: uk6D0CFA. It has taken me something like 45 minutes to fill in all the questionnaires. There were questions about genetics, ethics and social implications, covering topics such as incidental findings and potential risks of making this information completely open. Something I did not expect was the request to provide the details of two relatives to contact in case of incapacity. I found the test would likely reject people who are not familiar with the genomics field.
My personal profile is incomplete as I have not filled in any surveys yet. I have tried to upload my 23andMe genotype data, version 2, of about 0.5 M SNPs, but unfortunately, the file does not seem to parse correctly. I am not sure if this is a problem of this being an old version of the 23andMe genotype set or of a bug in the program. Something that I found really funny is that everyone who was sent the initial Personal Genome Project UK invitation is able to email to the whole distribution when doing “reply-all”. In the few hours this list invitation was sent there has been an email storm of people complaining and laughing. Understandably, some people are quite annoyed, complaining about PGP UK’s ability to be trusted in dealing with clinically sensitive information when they are not able to look after the emails of people.
Overall, I am quite satisfied with the questions, the process and the PGP-UK system. I will be reporting in this blog my undertakings as a volunteer for this project. Apart from the initial hiccups, it is really nice that people in the UK now have the chance to join this great initiative.