While it is still fresh in my mind, I would like to reflect on some of the learnings that the Personal Genomes Conference organised by Wellcome Connecting Science Programme provided.
This is the second time this conference has been held, the first one in 2019. In two years we can already perceive progress and advancement in an already rapidly moving field. In the 2019, we saw themes revolving around privacy, data sharing and national efforts to develop population wide genome reference databases.
Today we see how new technological advancements and concepts have taken over the field, for instance, Polygenic Risk Scores (PRS). The Polygenic Risk Score Catalogue has emerged as a reference resource that captures genetic contributions to disease by Genome Wide Association Study markers validated in independent populations. We see a proliferation of these disease predisposition descriptions.
We also see how such studies, mostly including Europeans, pose a threat to equal access to the benefits of genomics by diverse ethnic groups. We have highlighted in this conference how some initiatives in Africa, the US or Australia are working on developing diversity and including more underrepresented ethnicities.
We have also seen that for the benefits of genome technology to become more general, it is important to be able to engage with the public. It was clear from studies performed by some researchers that many people see genomics as something uninteresting or not worthy of their attention. The impression I get is that we scientists are not able to reach most of the population in terms of letting them know of the importance that genomics developments are having and will have for the future of everybody’s health and privacy.
It remains for us, the people who care about Personal Genomics, to tell those in media and the arts to help us open horizons among the uninterested.
That said, there are enormous opportunities ahead of us. Technology itself continues to advance by providing genomic tests more cheaply and accessibly. More and more people are being sequenced and some of these data are becoming accessible to researchers. More projects are also being developed that contain richer and more systematically curated environment and trait data, including those from wearables.
No doubt a challenge ahead is going to involve how to better integrate and analyse the different sources of data for a person, today in the order of petabytes if we think of Mike Snyder’s quantified self data. Yet the ubiquity of compute resources ever more accessible via cloud providers and the steady adoption by the clinical community will make a significant shift in the way we pay attention to our genetics, and more broadly, our personal health data.
All of these, will no doubt bring opportunities for innovators, investors, scientists and governments. Even if regulation such as GDPR makes it more challenging at times to develop algorithms or analyse data, it also provides a solid framework of respect and protection. I am certain, that together with the contemporary challenge of climate change, personalised medicine will be the next frontier for years to come. It will no doubt be rewarding, frustrating at times, and, in any case, a worthwhile endeavour to pursue.