When will everyone sequence their DNA? (Hint: it’s not just about the money. They need to want it first.)

Sara Eshelman
Jul 19, 2019 · 3 min read

By Sara Eshelman

July 19, 2019

On December 23rd, 2015, I was sitting in my childhood bedroom in Detroit, Michigan. Except that the room finally had wifi, it was otherwise a shrine to my eighteen year old self. I was browsing the internet for last minute gifts for my parents and twin brother when I stumbled upon an ad for discounted 23andMe kits. “That’s cool”, I thought. And loaded up my cart.

Months later, I remember calling my parents to ask “Did you get the kits?” and “Did you send in your samples?” only to be confronted with “Not yet, honey, we’ll do it soon”. Years later, only two of those four kits were ever returned for analysis. This continues to boggle my mind. Even when it was free, the draw of health and ancestry information was insufficient.

I love asking the question “what would you do if money were no object?”. It removes one obvious constraint and forces you to think about the value being created and your preferences.

If money were no object, I would sequence every person on the planet (with consent, of course, and assuming strong data privacy and security protocols were in place). For tests that return significant results, I would more deeply explore individual genes or gene combinations. I would use these results to evaluate predisposition to disease, diagnose disease, and inform treatment and prevention strategies. I would also pair genome sequences and phenotypes on a global scale to discover new genetic variants that either cause or elevate the risk of disease, or protect against certain conditions.

But those are my preferences. And they are not necessarily widely shared. Even if money were no object, many people may actually prefer not to be sequenced.

Of course, money is a vital object. Especially in healthcare. But as important for broad adoption is the fact that many people do not yet feel that knowing about their genetic risk factors is valuable. Some of this owes to data privacy and security concerns. Some owes to a fear that they’d learn of a dire but inevitable condition. Some owes to a lack of adoption and support by physicians, especially in primary care. And much of it — I think — owes to the fact that there’s still not a whole lot that the average individual will learn from this data.

According to the CEO of Geisinger, only 3.5% of patients whose exomes were sequenced as part of a population-level program from 2014–2017 received medically actionable results (i.e., results that changed their course of care for the better). He expects that number to reach 10–15% as our knowledge base grows. For patients with certain risk factors, this percentage could be significantly higher. What percent is high enough to merit testing for the average patient is an open question. For my parents, it wasn’t until I framed their results as having potentially important implications for my brother and me (essentially a multiplier across generations) that they took notice.

At Spero Ventures, we believe that one day soon, our knowledge of disease-causing variants and ability to take action based on them will cause a significant share of the population to want to be sequenced. Of course, this future requires responsible communication and follow up strategies to ensure patients understand and take action based on their results. And ultimately the economics will need to make sense.

If you’re thinking about or building tools that will accelerate us toward this future, let’s talk.

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