23andMe Knows You're Special

23andMe knows that you are special. But you might be even more special than any of us suspected, and we want to learn a little more about that.

23andMe’s unique research model allows our scientists to leverage data from millions of customers who consent to participate in our research. This gives data at unprecedented scale to reveal more quickly and efficiently not just the causes for illness but also potential treatments.

That’s the power of “big data.”

But, there’s also power in small data – finding individuals whose genetics makes them especially interesting. 

So 23andMe researchers are undertaking a pilot project that will include several dozen customers who’ve consented to participate in research and have something unique in their genome that could help our scientists to better understand metabolic conditions such as heart disease or type 2 diabetes. These customers have agreed to be re-contacted by 23andMe researchers.

Along with looking at genetics, health history and the conditions research participants report that they currently have, we’ll be adding basic blood panel data from these individuals – such as lipid levels and glucose. For this data we’ll be enlisting the help if ixlayer, a leading remote diagnostic testing platform. ixlayer will be coordinating both the at-home blood draw experience and the lab work at a national scale and then 23andMe will be incorporating that data into our analysis. 

So, what’s so interesting about adding this kind of data to the data we already have, and why are we focused on just a few dozen individuals?  We’ll explain.

Studying individuals who many would have expected to have a condition but do not because of something in their genome, or other individuals who are healthy but have a rare genetic variant that turns off the function of a gene, could tell us a lot about certain diseases and potential ways to treat them.

People who have a rare genetic variant that turns off a gene, known as a “loss of function” variant, or others who have a variant that heightened the expression of gene or gives it a new activity, known as a “gain of function” variant, offer researchers the potential to find much deeper insights.

In cases where healthy individuals have one of these rare variants in a gene that is also associated with a condition – say high or low cholesterol – it indicates for those studying these conditions whether boosting or diminishing the function of that gene to treat an illness may be safe to do so. Individuals with rare genotypes can offer insights not just into a specific disease, they can also give insight into whether a specific drug is safe or not.

There are already real-world examples of how this works. The most cited is that of extremely rare individuals who have dual “loss of function” variants in the gene PCSK9, which is involved with the regulation of the amount of cholesterol in the bloodstream. Individuals with loss of function variants in both copies of that gene were shown to have very low LDL levels, or so called “bad” cholesterol, but importantly, were otherwise healthy despite having no PCSK9 function. Medications were developed that inhibited PCSK9, lowering LDL levels and in turn substantially reducing the risk for a cardiovascular event.

There are other examples of individuals who had something in their genome that made them resistant to certain diseases like HIV, Alzheimer’s disease or diabetes. A deeper understanding about what in their genome contributes to that could help those studying these conditions and looking for new treatments.

That’s the motivation with this small pilot study. The first step is finding these special individuals, and then it’s gathering data for a deeper understanding of what makes them unique. Ultimately, the hope is that this will lead to potential treatments and cures.

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