Dr. Eric Topol is frustrated.
There’s been a series of genomic discoveries that tell us how individuals tolerate common drugs. But physicians, for the most part, still aren’t applying this in practice.
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“You generate all this useful knowledge that would help patients, and it just gets ignored,” Topol said in an interview at this week’s BIO International Conference in Philadelphia. “And it’s frustrating.”
Topol cited a recent sequencing study for cancer drug vincristine – a common chemotherapeutic that causes, in some patients, terrible neuropathy and pain in walking. The science exists to screen people for a poor reaction to the drug, so it’s only administered to those who won’t get neuropathy – “but it’s not being done,” Topol said.
Another example is Cisplatin, another chemotherapy drug that can cause irrevocable hearing loss in children. Though there’s been research published on the variants that cause hearing loss, children still aren’t screened in advance of being administered the drug.
“We have all these things that we have just discovered that are not implemented in practice, and it’s really – it’s very frustrating,” Topol said. “Hopefully we’ll get over this some day.”
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It’s not that the regulatory timelines are too long, Topol said. It’s that most oncologists don’t choose to take the pharmacogenomic route with their cancer patients. Only certain centers do sequencing, or characterization of tumors by mutation. This comes despite the fact that scientists understand the genomics associated with about 120 commonly used drugs. The research out there, he said, is almost wholly ignored.
“We basically have a medical community that doesn’t embrace the use of genomics,” Topol said. “Often times these days, it’s the patients that are clamoring.”
So why the slow uptake? There are several reasons, Topol said, but the largest is a gulf of knowledge.
“When physicians were trained, modern-day genomics was not part of the curriculum,” he said. “I’m sad to say, it’s still not part of the curriculum – but it’s starting to pick up.”
Beyond this knowledge gap, commercial testing just isn’t as cheap and widely available as it should be, Topol said. It’s still relatively hard – and costly – to get genotyping done for patients.
“It should be really cheap,” Topol said. “It should be pennies – and it isn’t.”
It also takes days or weeks to get sequencing information completed – by which time the doctors are typically moving ahead with treatment.
Topol cited 23andMe – and how he was discouraged when the FDA pulled the company’s pharmacogenomic offerings. For the blanket cost of $99, users could get pharmacogenomic information, as well as ancestry and inherited disease information.
“One of the nice things of 23andMe was that you could get pharmacogenomic results from about 30 common drugs,” Topol said. “And now they’re not functional. But we need something like that.”
