AI Helping Make Rare Diagnoses

 

Automated Intelligence, or A. I., seems to be everywhere. New applications for A. I. are being found daily. There are certainly some drawbacks to A. I., such as social media advice that has led to some suicides, but for the most part A. I. represents a powerful new tool in our playbook.

The latest breakthrough attributed to A. I. is medical assistance in diagnosing rare diseases.

Alex Janin, writing for The Wall Street Journal, tells us of some remarkable discoveries made possible by A. I. in diagnosing rare conditions that previously stumped medical professionals. He says, “Patients and families are turning to AI to help pinpoint conditions. AI can be especially adept at flagging potential rare and hard-to-diagnose diseases, which may otherwise go undetected for years because doctors don’t often see them.”

“I have been a little slack-jawed a couple of times by the difference” AI has made in helping to spot uncommon conditions, said Dr. Sarah Diekman, a doctor who specializes in a subset of nervous-system disorders like POTS. “I’ve seen patients who’ve had this for 50 years, and I was the first person to diagnose.” Now, she said, patients who identified POTS with the help of AI chatbots are coming to her within months of their first symptoms.

Fidji Simo, the former chief executive of Instacart, has been public about her battle with POTS and stepped down from her post as Open AI’s No. 2 executive in July, citing her health. In an interview with The Wall Street Journal, she said she believes today’s AI tools would have helped her get a diagnosis, which took roughly nine months, much more quickly.

Data-center-driven diagnoses can be even more accurate than doctors’. In a study published last year in a JAMA journal, researchers took 90 complex rare-disease cases that had already been solved and tested AI chatbots’ abilities to suggest the right diagnosis. The two chatbots got the diagnoses right in 13% and 10% of cases, respectively, compared with 5.6% of cases that doctors had diagnosed through a review of patients’ medical records.

However, some caution is warranted. I am personally aware of at least one study that showed AI scored only 77% on a test of common orthopedic conditions compared to 100% by doctors. For most common ailments, it’s best to use human physicians. But for cases that stump the doctors, the use of AI may be beneficial.

AI can be especially good at finding patterns, such as links between physical features in medical imaging and words in medical literature or case reports, doctors and researchers said. That can help spot rare diseases, especially in rural or nonspecialty clinics where doctors may be confronting them for the first time, said Dr. Matthew G. Hanna, a breast pathologist who chairs the College of American Pathologists’ AI committee. AI may help provide suggestions for them about what types of tests to run, or what potential treatments could help, Hanna added.

Yet there are limits, doctors said. Clinical geneticist Dr. Xiao P. Peng, who helped confirm Hinken’s family’s diagnoses, said the tools still make mistakes and are better at generating possible leads, translating complex medical jargon and compiling research than making diagnoses.

This doctor agrees. It’s not time to fire your family physician or specialist. Years of experience are still very valuable in the treatment of all patients. AI is just a new useful tool in the doctor’s handbag, not a replacement for his or her wisdom and experience.