Mar 20, 2023 - Research

We Know You’re Special

DNA Discovery

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 us data at unprecedented scale to reveal more quickly and efficiently not just the causes for illness but also their 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 also be adding basic blood panel data from these individuals — such as lipid levels and glucose. For this data we’ll be enlisting the help of 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?

Research Opportunities Based on Your Unreported Genetics

The participants in this study represent a group of our research participants who’ve gone through an additional layer of consent.

For this research our research participants have opted-in to being contacted by our researchers about research opportunities based on genetic information not included in their 23andMe reports.

These research opportunities might be related to specific conditions for which we currently do not yet have a report. Those who agree to participate and who are contacted for specific studies may only learn about the condition being studied but not the specific variant.

Like all our research, participants must opt-in to be included, and those who are currently participating can change their minds and then opt-out at any time.

Interested in 23andMe Research?

Find out more here.

We’ll explain.

Studying individuals who maybe would be 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 heightens the expression of a gene or gives it a new activity, known as a “gain of function” variant, offer researchers the potential to find much deeper insight.

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. 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 who had 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.

About ixlayer

ixlayer is redefining next generation patient experiences for lab testing and better health outcomes. They make it easy for people to test outside of clinical settings and take proactive steps towards better health. ixlayer collaborates with a wide variety of organizations to create configurable solutions for their patients and research participants. Their platform enables patient-friendly digital experiences, 1000s of testing options and seamless integration with their customers and lab partners. 

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