Patients trust their doctors to diagnose them accurately — and quickly. But when a patient has a rare condition or non-specific symptoms, getting that accurate diagnosis can become a costly process that takes months or even years.

Maybe crowdsourced medical diagnosis could do a better job. That’s the proposition of CrowdMed.com, which harnesses the combined savvy of more than 20,000 doctors, nurses, medical students, and other sleuths — including some with no formal healthcare credentials — to offer suggestions patients can bring to their in-person doctors that might help expedite the time it takes to find a correct diagnosis.

Launched in 2013, the San Francisco-based company has helped more than 2,000 patients get closer to finding the right diagnosis. CrowdMed currently has pilot programs underway with four major insurance firms to explore whether crowdsourced medicine can be economically effective for patients and insurers.

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“If you have a condition that doctors see often, say a heart condition or cancer or diabetes, it’s not hard to get a diagnosis and get on the right treatment path,” says CrowdMed founder and CEO Jared Heyman. If the condition is more unusual, he adds, “you often end up in this cycle where you just get referred from specialist to specialist searching for that needle-in-a-haystack person who might have familiarity with what you have."

Heyman has seen that cycle first-hand. Back in 2003, his sister, Carly, began gaining weight and sleeping all day. It took three years, more than 20 doctors, and over $100,000 in medical bills to figure out she had a rare genetic mutation called fragile X-associated primary ovarian insufficiency (FXPOI). Carly was treated with a hormone patch and her symptoms vanished within a month.

“I saw how ill-equipped the traditional medical system is when it comes to helping people with difficult to diagnose or rare diseases,” Heyman says. “I wanted to apply everything I knew about crowdsourcing to healthcare to help people like my sister.”

How Does it Work?

Patients log on to the site, answer a series of questions about their symptoms and medical history, and then, if they choose to do so, upload their medical records to the site with identifying information removed. Then the site's so-called “medical detectives” collaborate with the patient and each other to offer suggestions as to what they believe is going on, which patients can then discuss with their doctors.

“I saw how ill-equipped the traditional medical system is when it comes to helping people with difficult to diagnose or rare diseases.”

CrowdMed has its critics, including those who question the efficacy of detectives who can’t see a patient in-person and those who believe the site doesn’t provide enough data on patient outcomes.

But it also has its fans like Madeleine Gerlach, a 24 year-old in Pacifica, California, who turned to CrowdMed in early 2013 after a series of doctors failed to identify the cause of the severe, intermittent pain she began experiencing the previous year.

Initially, doctors could find nothing wrong with Madeleine, and her pain subsided for a few months. When it returned, Madeleine’s doctors attributed the pain to spasms in her pelvic floor, the bundle of muscles, nerves, and connective tissues that support the rectum, bladder, and uterus. They referred her to a pelvic pain center and prescribed painkillers.

Nothing worked.

After learning about endometriosis, a uterine disorder that can cause severe abdominal pain and bleeding — and whose nonspecific symptoms make it notoriously difficult to diagnose, Madeleine thought that’s what she might have. Her CrowdMed detectives also suggested it was the most likely culprit, but her in-person doctors didn’t agree. Madeleine had diagnostic surgery that May, but it didn’t reveal enough uterine lining growth for doctors to support endometriosis.

Bolstered by what CrowdMed detectives believed, Madeleine got a second opinion, paid $25,000 out of pocket to have a second diagnostic surgery, and in October it was determined she had stage two endometriosis, shaving years, potentially even a decade, off of the average time to diagnosis.

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“Just having the diagnosis gave me everything,” Madeleine says. “I was over the moon when I woke up from surgery. I was like ‘I’m not crazy. There’s actually something wrong with me.’”

Getting a correct diagnosis, even if no medical treatment is available for the condition, is often a triumph for patients who need validation that something is truly wrong, says Ronald DeBellis, chief scientific officer for the National Organization for Rare Disorders, a nonprofit organization headquartered in Danbury, Connecticut.

But for patients with rare disorders — illnesses that affect fewer than 200,000 people across the entire U.S. — getting a proper diagnosis is especially tough. On average, it takes patients with rare disorders seven years to get an accurate diagnosis. In the meantime, as some patients ping-pong from doctor to doctor and undergo repeated batteries of tests, they can run out of money — and hope.

“The mental anguish that goes along with this is unbelievable,” DeBellis says. “Every time you go to the doctor, you think someone’s going to find something” that can help.

Turning to the Crowd

CrowdMed seeks to reduce the timeline of a diagnosis by enlisting detectives representing a broad spectrum of medical backgrounds — everyone from surgeons to acupuncturists to patients who have become experts on their own conditions. Detectives start with a ranking based on verifiable medical credentials and can move up the CrowdMed ladder by adding suggestions other detectives find valuable, and by becoming the medical detective the patient deems most effective as the case closes.

Moderators, all of whom are licensed physicians, monitor conversation to ensure conclusions are drawn based on peer-reviewed science. Well-supported suggestions from the case’s highest-ranked detectives float to the top of the answer pile, as do those that a CrowdMed algorithm determines as having the highest probability of being right. Patients receive a list of potential diagnoses, ranked from most to least probable based on algorithmic assessment and crowd opinion.

But it’s not cheap. Patients pay fees of up to $749 per month — higher fees buy higher-ranked detectives working on the case — and the site reserves a monetary reward of $200 to $1,000 that a patient can divide among the most helpful medical detectives on the case.

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Providing a direct diagnosis isn’t CrowdMed’s goal. The site and its detectives sidestep liability issues by offering suggestions afflicted users can bring to their in-person doctors, rather than official medical advice. The true aim is to provide patients with new insights they can use along with their medical providers to get answers.

Patients like Madeleine sing CrowdMed’s praises, but some in the medical community have doubts.

Jordan Shlain, a primary care doctor in San Francisco, believes that the site offers patients access to experts they may not reach otherwise, but he’s concerned that CrowdMed detectives might not have the tools to recognize when a symptom is from a physical condition and when it's a manifestation of a patient's psychology.

On average, it takes patients with rare disorders seven years to get an accurate diagnosis. In the meantime, patients can run out of money — and hope. Reza Estakhrian / Getty Images

Difficulty separating physical disorders from somatoform conditions wherein mental illness causes physical symptoms is “definitely a concern and a limitation of not being able to physically examine a patient,” says Kyle Walker, a CrowdMed moderator and general practice physician in Ohio.

Walker says that medical detectives, including those from neurology and psychology backgrounds, sometimes suggest somatoform disorders, but patients often aren’t open to that possibility.

“More often than not, patients just say, ‘Oh I didn’t get a diagnosis from CrowdMed’ and leave dissatisfied,” he says.

Some are also concerned about how patients fare after their CrowdMed case is closed. Hardeep Singh, a patient safety researcher at the Michael E. DeBakey VA Medical Center and Baylor College of Medicine in Houston, published an evaluation of CrowdMed last January. He found that some patients with undiagnosed conditions reported receiving helpful guidance from the site, but there wasn’t enough information available on patient outcomes after cases were resolved.

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“Imagine the crowd makes a suggestion of this pathway and you get more tests and more tests and a procedure based on those tests and the procedure doesn’t go very well,” Singh says. “We actually don’t know the downstream outcomes of the suggestions coming out of the crowd, which is exactly why we need that evaluation component.”

CrowdMed patients are asked to complete a survey within 90 days after case closure to evaluate the site’s success — Heyman says that “75 percent of the time, if a patient has a medically confirmed diagnosis, it came from us” — but medical detectives and moderators generally don’t know how specific patients fare after their case is closed.

Crowdsourcing the Future

Crowdsourced medical help could be a boon for patients, and a game changer for insurance companies, since even a small reduction in time to a diagnosis can translate to thousands in saved medical costs. Joseph A. Ladapo, an assistant professor of medicine at the University of California, Los Angeles, published a small study last year on the impact of CrowdMed on healthcare claims.

Ladapo found that after CrowdMed detectives resolved a case, the number of patient healthcare visits by dropped by nearly 50 percent and their average medical costs went down by about $200 per month. The results are preliminary but “very exciting,” Ladapo says, adding that sites like CrowdMed could significantly broaden access to medical expertise.

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“I have patients right now in the hospital that have symptoms I have never seen before that are stumping our entire team," he says. "We’ve brought consultants in and we’re all stumped. It would almost certainly represent an improvement to have more people thinking about that patient.”

It won’t be clear whether CrowdMed will join forces with major insurance policies, and potentially become a larger part of healthcare in general, until the company’s pilot programs are over later this year. But online resources that allow patients to research their own symptoms, connect with experts who can offer medical feedback, and provide data and suggestions to in-person physicians are rapidly expanding. It's forcing the medical community to consider how it will evolve to work within a landscape of more empowered patients, Hardeep Singh says.

“I think the physician community is not completely ready," he says. "But I think it’s increasingly recognizing that we’re in a new era, we’re in a new world where we’re going to have to change the way we receive this online information. I think this is going to continue. CrowdMed is just the beginning.”

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