For one scientist, the promise of precision medicine is personal

Author Kristin Ciriello Pothier saw first-hand how hopeless cancer can be, but today she’s on the front lines personalizing treatment.
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Kristin Pothier

When Kristin Ciriello Pothier was 12 years old, her grandfather died of metastatic lung cancer.

It was 1985, and there was no treatment available.

“It spread very, very quickly from his lungs to his bones,” Pothier said. “We tried radiation. We tried drugs. At the time, there was nothing to target his tumors. Today, there is, but then there was nothing.”

[Also: AI can speed up precision medicine, New York Genome Center-IBM Watson study shows]

For Pothier, it left an indelible and painful memory of her grandfather and the toll the disease took on the family.

“It was traumatizing as a young child to watch my parents go through that and my grandmother have to go through that,” she recalls.

It was that experience that drew Pothier to the field of science, and more recently led to her to writing “Personalizing Precision Medicine,” published this year by John Wiley & Sons.

[Also: Intermountain makes strides in precision medicine, advanced imaging]

Managing Director and Global Head of Life Sciences for the Parthenon-EY practice of Ernst & Young, Pothier’s background is rooted in science: biochemistry at Smith, clinical epidemiology at Harvard.

“My scholastic training was always in medicine – in innovation in medicine, in life sciences, in biochemistry – and then moving into clinical medicine,” she said.

Pothier was a scientist at Genome Therapeutics and later at Genzyme. It was at a time in the 1990s when all the scientists at Genome Therapeutics were sequencing for the Human Genome Project.

“We were the only commercial entity at the time doing that, she said. “I was very proud to be a part of that.”

Later she moved to Genzyme, where she worked on developing precision medicine diagnostics before it was called precision medicine. She and her colleagues worked on the first prenatal diagnostics for cystic fibrosis and the first oncology diagnostics.

Early in her career, Pothier moved to the business realm, building one firm based entirely on innovation in life sciences and precision medicine.

She was drawn to precision medicine early on – because of its promise and the memory of her grandfather, for whom there had been no hope of recovery.

Today, she considers precision medicine on an “early swing,” but she recognizes its growing power.

“It is already changing lives,” she said, “especially in breast cancer, in melanoma. When you look at melanoma, from 1975 to 2011 we saw almost nothing that was game-changing with regards to launching a new drug,” Pothier said. “Over the last five years, seven novel therapies have come to market with more to come.”

“We’ve gone from being able to get successful and get a positive response in 5 percent of patients to 50 percent of patients.”

So, yes. She’s optimistic.

“We’re seeing this very, very big impact of being able to save lives, or extend lives,” she said, observing that more than 75 percent of the medication pipeline is made up of targeted therapies.

A targeted therapy might have helped her grandfather live longer, or perhaps eased his pain.

“Not only is it prime-time now with the therapies that we have,” she points out, but it could be even more impactful in the next three or five years.

As she sees it, the most rewarding aspect of precision medicine is the palpable joy of the patient who has recovered or who has moved from being ill to managing a chronic condition.

“That’s what I get excited about,” she said, “because, from an epidemiological perspective, to be able to watch whole populations of people live better, live longer and get cured of their illnesses through a targeted approach, that’s super exciting to me.”

Twitter: @Bernie_HITN
Email the writer: bernie.monegain@himssmedia.com

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