Scientists want to make sure medical breakthroughs aren't just for white men

Today, when you go to the doctor, she does some tests, asks a few questions, gives you a diagnosis, and if necessary, prescribes you a medication. For the most part, it’s a pretty generic, one-size-fits-all process.

But the future of medicine will be all about you. It’ll be personalized, with wearable sensors in and outside your body that’ll track your cholesterol or signs of cancer. Google X revealed this week that it’s already working on a medical wearable that tracks heart rhythm, pulse, skin temperature and your light and noise exposure. In this perfect future, doctors will get real-time feedback about what’s happening with your body and have access to your genetic records so they can write prescriptions based on your unique health history. That’s the promise, at least, of precision, or data-driven, medicine, which is still years away from being a reality.

If you’re a minority or a woman, though, precision medicine might be even further away. The sad truth is that minorities and women are underrepresented in clinical trials and genetic databases. And that can lead to bad medical advice. For women, the correct dosages for and side effects of common meds like sleeping pills and cholesterol-lowering drugs have often gone unnoticed until the drugs hit the market. And because of a lack of minority patients in clinical trials, there’s historically been a dearth of knowledge about how certain types of cancer affect minority communities. Even the sensors that could help clinicians track us don’t seem to work as well on people of color.

Researchers are now trying to rectify this. When scientists in California invited people to volunteer their genetic material and medical histories, they made sure they represented major ethnic groups. In the end, 1 in 5 of the participants — or 20,000 of them — were Latino, African American, or Asian.. The database, dubbed Genetic Epidemiology Research on Adult Health and Aging (GERA), described in three studies published in the journal Genetics last week, was created by scientists at the University of California, San Diego and Kaiser Permanente.

“We definitely all along felt that a lot of the research that has been done has been done in samples that were entirely non-Hispanic white,” said Dr. Cathy Schaefer, a research scientist at Kaiser Permanente who led part of the study. “We [wanted] to ensure that communities that have historically had less participation in research…were represented, so when the benefits of this kind of research begin to accrue, everybody benefits.”

When the researchers were organizing the project, they made a point to include as many minority volunteers as possible to “maximize the representation of those groups” in the genetic database they were building, Schaefer added. The team, in collaboration with scientists at UCSF, also developed special tests to measure uncommon genetic traits more likely to be found in non-white ethnic groups, such as gene variants linked to kidney disease that are more common in people with West African heritage. For patients who had those genes, that information is now included in their medical record rather than going undetected. Having that kind of data on hand for hundreds or thousands of people for a variety of conditions could turn out to be important for doctors trying to predict which diseases patients with similar backgrounds might be at risk for.

“I think the significance of the Kaiser cohort will be huge,” said Joshua Denny, a biomedical informatics research at Vanderbilt University, where he’s helped develop a database similar to GERA. There’s more and more evidence, he added, that pairing electronic medical record data with genetics can help clinicians better understand patients’ risk for certain diseases; how their condition might vary from the “norm;” and how well they might respond to certain medications.

The database isn’t the first of its kind. Vanderbilt’s, which has just under 60,000 people, also links genetic information to medical records, though it hasn’t made its diversity numbers available. And 23andMe, a commercial genetics company, has a database of over a million people. Like the GERA cohort, 23andMe’s database is approximately 20 percent minority (8.6 percent Latino; 4.3 percent African American; 5.1 percent Asian; 1 percent Middle Eastern). While researchers are making progress in this area, they could do better. That’s still far lower than the proportion of minorities in the population at large, which is almost 40 percent.

The GERA group recruited their guinea pigs by tapping into Kaiser Permanente’s vast Northern California network. (They asked participants of another already existing database to participate in this new study.) They hope to diversify the pool of patients further by expanding the study to other sites across the country where Kaiser operates; it’s one of the largest health systems in the U.S., with almost 10 million customers.

In some cases, the Kaiser database has medical history on patients going back more than 20 years, which gives scientists a rich dataset from which to draw insights about how ethnic background, environment, health history, medication history and other factors contribute to a person’s health. Denny noted that the fact that GERA had data going back more than 20 years for some patients was “tremendous.”

The database is going to be open to researchers at other institutions, provided they collaborate with a Kaiser researcher. Already, more than 100 studies have been proposed, though fewer than 10 are underway. Some of the data has also been uploaded, with patients’ permission, to the national public gene database, dbGAP.

“What’s really markable about these types of studies is that alone gene data or [electronic health record] data only tells part of the story,”said Dr. Richard Loomis, the senior medical director at Practice Fusion, who was not involved with the study. “Once we’re able to combine both genetic data with clinical data, we can start to piece them together and make sense of the genetic data in ways we haven’t previously been able to.”

Daniela Hernandez is a senior writer at Fusion. She likes science, robots, pugs, and coffee.