How patients with an inconclusive diagnosis should proceed
A few years ago, Ken Berger noticed a small mass in one of his testicles, and scheduled a next-day appointment to get it examined. An ultrasound revealed a lump, but other tests came back negative for testicular cancer — except for one.
To his frustration, a commonly used cancer blood screening test came back with a reading outside normal range — though not enough to confirm a diagnosis.
So he visited multiple specialists, and the doctors ran more tests. The one test continued to return fluctuating results. His levels never got high enough to confirm a diagnosis — yet remained too high to completely rule out cancer. This went on for a year and a half.
“No physician could figure out what was wrong,” says the 63-year-old geography professor from San Diego. Living with the unknown, he says, was torture.
“Do I have cancer, yes or no? Once the decision is made — good or bad — at least you can say OK, this is the result and now you can start planning and get on with your life. It’s better to know,” he says.
Missed or incorrect diagnoses plague millions of Americans like Berger each year. A recent study published in the British Journal of Medicine found that diagnostic errors affect about 12 million people in the U.S. each year.
These incorrect diagnoses — or none at all — often take a financial and emotional toll on patients as they struggle to navigate a complicated medical system to figure out what’s wrong.
Here, experts offer recommendations for patients eager to unearth the source of what ails them:
Work with a primary care physician. It’s important to work with a primary care physician so that all doctor visits, tests and other treatment information is being monitored by one physician overseeing your entire case.
“If you go to a pulmonologist, they’ll test your lungs because that’s what they know. Going to a specialist is a bad idea until you know what’s wrong. That’s why primary care physicians are so important, because they look at the whole person,” says Dr. Leana Wen, an emergency physician at George Washington University and co-author of “When Doctors Don’t Listen: How to Avoid Misdiagnoses and Unnecessary Tests.”
Take an active role. “Communicate with your doctor that you want to be an active participant in your care,” she advises. Just stating that can make a big difference in how your doctor treats you, she says.
Show up to your appointment prepared to discuss your condition and the medications you’re taking. This gives the doctor more time to listen to you.
“On average, physicians spend eight minutes to see patients. There isn’t time to go over a complex history,” says Dr. Bettina Experton, chief executive of Humetrix, a healthcare information technology company based in Del Mar.
For that reason, it’s a good idea to jot down notes in advance of the visit to include a brief history of your symptoms, the medications you’re taking and any tests or scans you’ve undergone.
Also, consider keeping your own electronic personal health record, which can be a more efficient way to receive and transmit the summary of your medical care to any doctor or health system you visit.
“I can’t overstate the importance of the patient history in coming to a diagnosis,” says Dr. David Harrison, medical director for Best Doctors Inc., a service based in Boston offering second opinions on medical cases.
Get a second opinion. It’s always a good idea to get a second opinion, especially when there is a complex set of symptoms without a clear diagnosis, Harrison says.
“Even if people go through the process and don’t find new answers but confirm what their first doctor is saying, it’s important to know you’ve left no stone unturned,” he says.
Most insurers cover the cost of a second opinion. And, in California, HMOs are required to pay for a second physician consultation.
Harrison suggests that people stay within the same medical system, if possible, especially if it has a shared electronic medical record. That can reduce the chance of your medical information becoming fragmented.
But author Wen, the emergency physician, cautions patients about staying in a system that has been unable to come up with an accurate diagnosis for them.
“If you want a second opinion, go to someone who is unbiased and not connected to your doctor,” she says.
Many large employers provide access to outside experts who will collect all of your medical records and review your case as part of your benefits package.
Also, have tests confirming your diagnosis reviewed again. When patients think about second opinions, they rarely consider re-evaluating the tests used to confirm a diagnosis, such as biopsies.
But Harrison says patients should ascertain how many physicians have looked at their test results, and request that they be reviewed again, or even sent out to a leading institution for additional review.
That’s especially important if you’re diagnosed with something like cancer; those reports, he says, are not black and white.
The interpretation of these tests changes one-quarter of the time, Harrison says. “One half of the time the change is highly clinically significant,” he says. The misdiagnosis rate for some cancers is as high as 44%, according to the Journal of Clinical Oncology.
Tap into the power of technology. New technologies are making it easier for patients to gain access to health information.
Medical social media sites connect patients willing to share information with one another, and can be a resource for finding the right doctor or diagnosis.
“On the good sites, the quality is high and people are subject-matter experts in their own condition,” says John Novack, communications director at Inspire, a company that builds and manages online patient-support communities.
Other technology-based tools can help uncover the cause of symptoms, says Trine Tsouderos, director with consulting firm PricewaterhouseCoopers’ Health Research Institute. These are sites that “allow you to log in, punch in your symptoms and they have algorithms that pump out” a diagnosis or prescription, she says.
“Something like that could help eliminate a diagnosis or figure out what’s wrong,” she says.
Harrison of Best Doctors agrees that online sources can be useful. “I would say knowledge is a good thing, especially if people feel disempowered because they don’t know their condition.”
He also cautions patients about the limits of technology and notes the importance of in-person doctor visits. “I wouldn’t start on a path of trying to treat oneself without a physician,” he says.
Berger, the San Diego geography professor, ultimately had his case reviewed by an outside set of doctors that determined that his fluctuating test results weren’t a sign of cancer, but rather represented an anomaly.
He’s now reasonably confident he’s in the clear, though doctors still can’t give him a definitive answer.
“They ran the test again and said given your age and the various test results, we are pretty sure it’s just a cyst and not cancer,” Berger says. He’s not happy about the uncertainty, but concedes that “I have to live with it.”
Medical social networking sites: Inspire (Inspire.com), PatientsLikeMe (www.patientslikeme.com), MedHelp (www.medhelp.org)
Online medical diagnosis, assistance: Virtuwell (www.virtuwell.com), Mayo Clinic’s Better (www.getbetter.com)
Diagnosis and treatment review: Best Doctors (www.bestdoctors.com)
Personal medical record apps: iBlueButton (iBlueButton.com), Track My Medical Record (mymedicalapp.com)
Zamosky is the author of a new book, “Healthcare, Insurance, and You: The Savvy Consumer’s Guide.”