Variant Bio’s Partner-Driven Approach to Phenotype Selection
At Variant Bio, identifying populations with exceptional health-related traits is not an easy task, even when high quality data are available. Using population-level health data, we can sometimes identify sub-groups of individuals who may be at higher genetic risk of disease development or resistance. However, data are not always available for study, which makes finding differences between populations and geographical regions more difficult. It is during these times that we rely most on our partners’ experience with a community to help us identify subgroups.
Many of our partners are experienced clinicians, researchers, or community members who will sometimes notice that certain groups tend to present with a disease or trait more often than others. While these observations are not always quantified, they can provide great insight into potential differences in disease burden, especially in the absence of population-level health data.
For example, our collaborators at Lille Catholic University Hospital Group first identified gout as a potential disease with a higher burden in French Polynesia through first-hand accounts from a clinician with many years of experience working there (see here for further details on this project). While they knew that the prevalence of gout in North American populations was near 4% and that a study among a Polynesian population in New Caledonia was close to 7%, they were unsure of the prevalence in French Polynesia. Through our joint efforts, we were able to determine that the prevalence of gout among the population there was a striking 30%. Thanks to our partners noticing the trend in disease burden we were able to collaborate to find potential genetic reasons for the development of gout.
Conversely, there are times when our collaborators have already collected large amounts of data over the course of many years. In these scenarios our projects are almost entirely partner driven with support from Variant on the genomics side of the study. In our collaboration with the African Research on Kidney Disease (ARK) Study group in South Africa, for example, we built on a great deal of previous work that sought to understand the high burden of kidney disease in the region (see more on this here). Our ARK collaborators were key in helping us define a phenotype of interest and through our joint work we can investigate whether there are genetic variants associated with kidney disease susceptibility.
Finally, there are occasions when our collaborators are themselves members of a community experiencing increased burden of a particular health condition. Here, our collaborators serve as experts for community engagement, help us identify stakeholders in the community, and even conduct the research itself. In our collaboration with the Faroe Genome Project (FarGen), for example, we worked with Dr. Noomi Gregersen, who is herself a member of the Faroe Islands community (see more about this project here). Dr. Gregersen has worked extensively with FarGen on the Faroe Islands and initiated a collaboration with Variant Bio and the University of Copenhagen to expand on the size of their existing genome project and explore the genetic architecture of specific autoimmune and metabolic disorders among the Faroese.
As demonstrated by these examples, at Variant Bio we are open to partners and potential partners coming to us with their interests and observations around a variety of phenotypes. We encourage physicians, healthcare workers, academics, community members, and other researchers who work with populations with exceptional health-related traits or populations that are underrepresented in genetic studies to contact us to discuss a possible collaboration.
