Genomic data offers a goldmine of information for understanding the contribution genetic variation makes to health and disease. The potential of genomic medicine, to predict, diagnose, manage and treat genetic disease, is underpinned by accurate variant interpretation. This in itself hinges on the ability to access large and varied genomic databases. There is now recognition that international collaboration between research and healthcare systems are paramount to delivering the scale of genomic data required. No single research group, institute or country will liberate our understanding, it is only through global cooperation, together with super computing power, will we truly make sense of how genotype and phenotype correlate. Whilst it is logistically possible to create computing systems that talk to each other and aggregate datasets ready to reveal novel correlations, the bottom line is that this will only happen if people (whether they be scientists, clinicians, patients, research participants, policy makers, politicians, law makers) support the principle that we should be donating, accessing and sharing our DNA data in this way. And in order to make the most sense of genomics, given the geographical and ancestral variation between us, such people are likely to be the majority of society.
Within this review, a perspective is proffered on the human story that underpins genomic 'big data’ access and how we are at a tipping point as a society – we need to decide collectively, are we in? and if so, what needs to be in place to protect us? or are we out?
Middleton A (2018) Society and personal genome data. Human Molecular Genetics, vol. 27, issue R1, pp R8–R13, March