polygenic risk scores

Diversity’s in the news these days. It's not just political correctness. Let’s look deeper into our field at how limited diversity in genetics is affecting all of us.

If you are a member of a minority population and you go into a cancer clinic seeking help, some of the genetic tests on offer may not work for you because of your ethnic background. Not only is this wrong on a social justice level. It turns out it's just bad science.

Because limited populations have been studied, scientists had labeled certain mutations disease causing, but when they went to larger more inclusive populations, “they realized, in fact, these were common non-disease causing mutations in other populations. And so all those people were misclassified with respect to their disease risk. Scientists made an error. And those kinds of errors affect all populations. It’s not just minorities that will benefit from this information. All populations will benefit when we have better data.”

That’s oncology Professor Tim Rebbeck from Harvard and Dana Farber speaking with us on today's show.

But let’s go back to the member of the minority population walking into the breast cancer clinic. There are polygenic risk score tests available and listed just for people of European ancestry.

“This is not ideal on so many levels. Aside from the clinical justice standpoint of offering intervention to one group, but not another group . . .” exclaims the other guest on today’s program, Sheila Rajagopal, an oncologist and clinical instructor at the University of Chicago. She goes on to provide more scientific imperatives for the importance of gathering more diverse data, particularly the challenging new PRS testing.

So where are we today? What are clinics doing to deal with this in real time? What is the scientific community doing at a larger research scale? These are the tough questions for Sheila and Tim on today’s program.

Source: NIHMS