Researchers Work to Bring Precision Medicine to Patient Prescriptions, Primary Care

Massart standing in a green space between a couple of brick buildings. She's wearing a black dress with three-quarter-length arms and a blue shawl, and has her arms crossed over her chest.

This story, written by Elaine Vitone, is excerpted from the summer 2019 issue of Pitt Med magazine, the School of Medicine’s quarterly publication.

A few years ago, Mylynda Massart was mentoring a young man who was struggling with depression. To add insult to injury, his trial-and-error search for the right treatment was itself a series of unfortunate events, one awful side effect after another.

Distraught, the mentee blurted out: “It’s the 21st century! Why can’t we just look at my genetics and know what to prescribe the first time?”

the cover of Pitt Med magazine, which has a blue and red illustration of two women's hair intertwiningAnd that, in a nutshell, is one of the biggest frustrations in medicine right now, for both patients and physicians.  

In some specialties, precision medicine is already the standard of care. Genetics guide therapy for cancer, for example, as well as many rare diseases treated by medical geneticists. Sadly, in primary care clinics — the front lines that see most patients most of the time — we’re just not there yet. 

But it is coming, says Massart, an assistant professor of family medicine at Pitt, who teaches genomics and precision medicine to Pitt Med students as well as practicing physicians.

Researchers are optimistic that the table is finally set to build an understanding of the enormous variability of sickness and health, of disease progression and remission, of response to treatment and its opposite. Scientists hope to clarify the interplay among genes, environment and exposure. The reasons why one identical twin can get a chronic disease and not the other. 

Massart told her mentee that he was justified in his anger. And in fact the research on his very question — which depression meds are right for which patients — was looking promising, but still not ready for prime time in clinical care. 

The science is evolving faster than practicing physicians can keep up. 

Today, more than 200 medications, which are used in treating dozens of diseases, have some genetic considerations. For some, there’s an indication right on the FDA-approved product labeling. And yet most frontline clinicians have no idea this is the case. Massart knows because she asks them to venture a guess when she gives talks. Most docs guess 20, maybe 30 tops. When she tells them the answer, it’s like a bolt of lightning. 

“They’re all shocked. ‘Two hundred?!’ They’re all pulling up their phones and clicking on the FDA site,” says Massart, who is 5’2” and likely to be spotted with her pink backpack as she ferries to and from three clinical and academic offices. She’s a self-described storyteller by nature. (It’s a Jewish gene, she says with a smile and a shrug.) 

The science is evolving faster than practicing physicians can keep up. 

And with the advent of genetic testing from companies like 23andMe, which deal directly with consumers rather than providers, patients are showing up at doctors’ offices with genetics reports. The physicians are confronted with questions for which their training never prepared them. So referrals to genetic counselors — of whom there is a dire national shortage — are growing. Patients can wait several months to get in, and a lot of very scary Google results can show up in the meantime. 

As one of only a handful of primary care physicians in the country with training in genetics, Massart is uniquely qualified to straddle these two worlds and begin what will likely be a long, hard effort to bridge them. And here at Pitt/UPMC — which established the UPMC Genome Center, the Pharmacogenomics Center of Excellence and the Institute for Precision Medicine — she feels she’s at exactly the right place and time to do it.

The story isn’t over: Read more about Massart and how she’s partnering with researchers like pharmacy’s Philip Empey and Lucas Berenbrok to make medicine more personalized.

You can help advance precision medicine

Genetics, environment and exposure riff off of one another in complicated ways. To better understand this perplexing interplay, the National Institutes of Health launched the Precision Medicine Initiative in 2015. Its primary charge: to build a 1-million-participant study called All of Us, which would include both genomic data and electronic health record data over time — at least 10 years and hopefully longer. 

All of Us recruitment launched right here in Pittsburgh, led by Steven Reis, associate vice chancellor and Distinguished Service Professor of Medicine, who directs Pitt’s Clinical and Translational Science Institute. When he met Massart, he recognized she was a natural fit for All of Us Pennsylvania, both because of her background in genetics and her work in underserved communities. (Massart is medical director of the UPMC Matilda H. Theiss Health Center, a family medicine practice in Oak Hill.) To make research as relevant as possible to as many Americans as possible, diversity in the All of Us cohort is key; Massart leads the statewide effort to help it live up to its name. 

Learn more, or sign up today.