Patients and their advocates are getting an ever-larger voice in how medical research is carried out. They participate in the design of experiments and have a greater say in what outcomes they care about most — and it's not always simply living longer.
Sharon Terry has lived through a couple of decades during which patients went from being complete outsiders to participants. She worries now that they risk being co-opted by the medical research juggernaut.
Her story started in Boston in the mid-1990s, when she discovered that her two young children had been born with a rare genetic disease called pseudoxanthoma elasticum. It's a progressive disorder that causes connective tissue to gradually get hard, and can impair, skin, eyes and blood vessels.
"Researchers came and took blood from us and our kids," Terry says.
A few days later, another set of researchers wanted to take blood, too.
"We didn't understand why they weren't sharing. And we also didn't understand why they weren't working together," she says.
Terry, who is now 60 and lives in Washington, D.C., was a college chaplain before stopping to raise her family. She and her husband, a construction manager, came to realize that the researchers weren't so interested in treating their kids. Their first priority was to probe the biology underlying the rare disease. Academics are rewarded for advancing the frontiers of biology.
"We [as parents] look at things differently," Terry says. "We look at what matters to us, and not some biological pathway that absolutely is important but isn't going to give us the answers we need right away."
So Terry and her husband took matters into their own hands. They sweet-talked their way into borrowing a lab bench at Harvard University and set about tracking down the gene responsible for their children's connective-tissue disease.
"My husband likes to say our neuroses took over and made us gutsy enough to go to Harvard and say, 'Could we borrow some bench space at night; could we learn from some postdocs how to look for the gene?' "
With no science background it took them a couple of years, but remarkably, they did find the gene.
"Then we put together a diagnostic test based on the gene. And now we're actually looking at therapies that might involve different variations in the gene," Terry says.
This is not a typical story of how parents end up getting involved in medical research, but it isn't unique, either.
"When we did it, it was paving a new way, but there have been hundreds of people after us to do similar things," Terry says.
Often these explorations start when a parent notices something that seems not quite right with a child. Doctors may be dismissive, so parents end up heading onto social media, where they can connect with other parents who share similar concerns.
There are now hundreds of patient groups, focusing on everything from arthritis to xeroderma pigmentosum. And patient participation in medical research is no longer an informal matter. The concept is written into federal laws, including one that funds the Food and Drug Administration. Since 2013, the FDA has held more than 20 meetings in which patients are invited to lay out what actually matters to them.
In September, the topic was organ transplant recipients. And among the people who spoke up was Lindsey Duquette, a 14-year-old with remarkable poise. She said she had been in and out of the hospital 172 times before she got a kidney transplant when she was 10.
"Here are some items on my post-transplant wish list," she told the panel of FDA officials and the crowd of other transplant recipients.
"How about a transplanted kidney that will last the rest of my life? Fewer toxic medications, and it would be great if meds could be taken just once a day."
She also wishes the immunosuppression drugs she must take twice daily didn't pose a lifetime cancer risk.
"I think the fact that they're holding the events — it's well-organized and well-planned — indicates that they're taking it very seriously," says Kevin Longino, who heads the National Kidney Foundation. Companies seem to develop drugs without regard to what patients actually value most, Longino says, and "I think patients have very little influence with drug companies."
The FDA historically hasn't considered its work from the patient's point of view. It generally starts with a company pitching a new drug and is supposed to answer the narrower question: Is the product safe and effective? Now that the FDA knows what patients care about, it can suggest that drug companies measure those outcomes in the course of testing new products.
The FDA has already demonstrated that it's paying more attention to what patients want. Earlier this year, after hearing impassioned pleas from parents and their scientific allies, the agency temporarily approved a drug for Duchenne muscular dystrophy, even though the science in hand didn't provide proof positive that the drug was effective.
Patients considered that a victory. And the company could start selling its drug for $300,000 per patient per year.
"The bad news about what's happening is that so much of patient input is involving patients who are working with or who are recruited by drug companies," cautions Diana Zuckerman, who runs a consumer group called the National Center for Health Research.
These companies pour millions of dollars into disease advocacy organizations and provide information to patients. So the patient voices are sometimes inadvertently channeling commercial interests, Zuckerman says.
With that system, patients also hear more about potential benefits than risks, she says. Clearly patients should have a voice in how big a risk they are willing to take, she says, but within limits.
"I think it's safe to say we need a sweet spot, and it hasn't been found. And the FDA has not done a good job of finding that sweet spot," Zuckerman says.
This is by no means a new tension. AIDS activists waged a similar fight decades ago with the FDA.
To get around this cozy relationship between drug companies and patient groups, Zuckerman runs training sessions to teach people to serve as the voice of the patient, independent of advocacy groups. The National Breast Cancer Coalition pioneered this approach years ago.
Sharon Terry also frets about the role of advocates. After her own experience in finding a gene for the rare disease that affects her children, she became CEO of a group called the Genetic Alliance.
"I think advocacy still has a place, but I'm starting to be concerned myself — and again I run one of these groups — about how much that we're becoming 'the man,' and we really need to break down our silos," she says. "We start to be insular; we start to be competitive. And that's not going to serve the people who suffer."
Terry worries that advocates are losing their role as agents of change. The system has come a long way over the past 20 years, but still has plenty of room for improvement.