Scientists can now read almost all of a person's DNA. But for much of it, we still don't know what changing it actually does. In many cases, a test can tell you that something is different. It just can't always tell you if that difference matters, or how.
That's starting to change. As we learn more, more of those 'we're not sure' results become clearer, and more people move from not knowing to knowing they have elevated risk. The DNA isn't changing. What's changing is our ability to understand it. Which means the number of people who know they are part of this group is going to keep growing.
Rare disease became visible when it became a category. Genetic risk hasn't gotten there yet.
Today, genetic risk populations exist as separate groups -- BRCA, Lynch, familial hypercholesterolemia, and others -- each with their own language, communities, and advocacy. Organizations like the Gray Foundation, the Basser Center at Penn, and FORCE have built extraordinary infrastructure: research, clinical frameworks, community, and advocacy. The reason someone like me can receive genetic information, act on it, and then step back to think about how it's all framed is because of the ecosystem they created. Individually, these groups can look small. Collectively, they are not.
BRCA alone affects roughly 1 in 200 to 1 in 400 people globally, depending on population. Lynch syndrome affects approximately 1 in 280. Familial hypercholesterolemia, 1 in 250. Taken individually, each of these looks like a niche condition. Taken together, they start to add up. High-impact inherited variants across known conditions affect a few percent of the population. That's tens of millions of people in the US, and into the hundreds of millions globally, before you account for moderate-risk variants or polygenic scores.
And most of those people don't know they are part of this group. Not because it's rare, but because it hasn't been widely tested or widely identified.
Rights, protections, and resources don't attach to individuals navigating this alone. They attach to groups that can be identified, measured, and recognized. Without a shared term, there isn't a clear group. And without a clear group, it's harder to secure what follows: coverage decisions, employer policies, clinical guidelines, research investment, legal protections.
Rare diseases followed a similar path. Thousands of conditions, each affecting relatively small populations, initially operated in isolation. Over time, they began to organize under a shared category. That visibility led to policy changes, including the Orphan Drug Act, and a significant increase in research and therapeutic development. It didn't solve everything. But it changed what was possible.