Mary O'Connor had long wanted researchers to decipher her genetic code to better understand a deadly heart condition that runs in her family. But the 52-year-old Nantucket woman balked at providing a saliva or blood sample to researchers because they would neither promise to give her the results nor pay her for her trouble.
It was only when a startup medical company, DNAsimple, gave her $50 for it that she agreed to provide a saliva sample. Plus, she'll get another payment every time another sample is needed.
No longer are patients or donors like O'Connor remaining passive when it comes to providing blood, saliva, or tissue samples used for research — samples that are used to help researchers find treatments that can earn drug makers millions, or even billions, of dollars.
In what some are calling the "biorights" movement, patients are refusing to provide specimens unless they are compensated; are promised that useful medical information will be returned to them; or are granted some control over how their biological samples will be studied.
"Innovation and progress will save lives eventually," said O'Connor, who asked that her maiden name be used to preserve her privacy. But "there has been an over-assumption and a gross expectation of patient altruism."
Human DNA derived from biological samples is in especially high demand as drug companies, the government, and academic centers race to turn their genetic secrets into valuable medical treatments. One research firm predicts that biological samples like those DNAsimple collect will generate $23 billion in revenue by 2018.
The use of patients by modern medical research was spotlighted in a 2010 bestseller, "The Immortal Life of Henrietta Lacks," which documented how a poor black tobacco farmer's cancerous cells outlived her, fueling major medical discoveries. The cells were taken during her treatment without her consent or compensation, as was often the practice, and were later commercialized.
Since then, patients looking for more control over their tissue and its genetic revelations have drawn powerful allies. In May, the American Civil Liberties Union filed a federal complaint on behalf of four people against Utah-based Myriad Genetics Laboratories Inc. The group asked the Department of Health and Human Services to ensure patients have access to all the genetic data a testing company gleans from their samples, not simply whether they have a certain gene or condition.
The year-old DNAsimple goes further. It is one of the few companies to pay for routine biological samples for research. The $50 O'Connor received is about what a donor usually gets for blood plasma. DNAsimple has already signed up almost 4,000 people. Patients "feel part of the process when they get compensated,'' said Olivier Noel, chief executive of DNAsimple.
But, in some ways, the emerging "biorights" movement is already changing how things are done.
Health and Human Services and 15 other federal entities have proposed a controversial requirement for researchers to get patients' permission to study biological material such as blood, pieces of tumors, or other tissue left over from medical procedures, even if researchers don't know the donor's identity. Currently, consent isn't required in those cases.
Leading academic organizations, including the Association of American Universities and the National Academies of Sciences, Engineering and Medicine, oppose the rule, saying too many restrictions and costs will stifle medical advances.
"We may not get enough samples" to study, said Dr. Alexander Lazar, a pathologist at the M.D. Anderson Cancer Center in Houston.
Lazar said he already has difficulty finding enough desmoid tumors, rare fibrous masses that can strangle arteries and compress organs, to study. If the federal proposal goes forward, he worries that the community hospitals that supply him may not have the time or resources to solicit patients for consent, leaving him unable to retrieve tumors.
Many patients also want information from the research that may help them.
"If you study my DNA, just let me know what you find," said Stacey Tinianov, of California, who was diagnosed with breast cancer three years ago, six weeks after her 40th birthday. "I don't think that is too much to ask."
Tinianov is one of more than 2,000 parties who have commented on the rules to the federal government.
"There is an economy around this data,'' said Sharon Terry, chief executive of the Genetic Alliance, a patient advocacy group based in Washington. "Why shouldn't the consumer be part of it?"
Poll results show that people are far less charitable about helping researchers when they know companies stand to make money from them.
About 68 percent of people are willing to give permission for their specimens to be used by a researcher for any purpose, according to a 2015 study in the Journal of the American Medical Association. But support dropped to 55 percent if patients knew their sample would be used to "develop patents and earn profits for commercial companies."
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TROVES OF BIOLOGICALLY valuable human samples are known as biobanks in the medical industry. Researchers familiar with one cache in Cambridge simply call it the "freezer farm." It's a half-empty room where Partners HealthCare medical system stores specimens derived from blood of more than 47,000 people in 16 large gray freezers at minus-80 degrees Celsius.
To stock it, Massachusetts General and Brigham and Women's hospitals send e-mails and deploy recruiters to waiting rooms asking patients to donate three small tubes of blood to advance medical research.
The blood is frozen in vials marked with a unique bar code linked to patients' de-identified medical records.
About 6,000 researchers affiliated with Partners can tap into the biobank for samples or data for about $20 a pop. If a researcher collected a sample on his own, it would cost $400 or more, according to Scott T. Weiss, scientific director of Partners HealthCare Personalized Medicine.
Although data are hard to come by, one 2013 study found more than 600 biobanks in the United States, built by hospitals, industry, and others.
Though patients don't often share in the profits of biomedical research, they do sometimes get useful information, as in a partnership between New York-based Regeneron Pharmaceuticals Inc. and Geisinger Health System, which treats 4 million people, mostly in Pennsylvania.
Willing Geisinger patients provide Regeneron with DNA samples, and in return, if genetic sequencing reveals something considered "medically actionable" — such as discovering a woman has the BRCA gene that dramatically increases her risk for breast and ovarian cancer — Geisinger confirms the finding and contacts the patient. By May, about 140 patients out of 111,000 have had results returned.
In Boston, the Partners group, which aims to get 100,000 volunteers, said it will start returning some medical information to patients this month.
People have long been paid for donating certain parts of themselves, notably in the reproductive field, where sperm can bring $600 a vial or eggs can fetch $10,000, according to fertility websites. Breast milk sells for $1 to $2 an ounce.
But payments for donated biological samples for research remain rare. The Food and Drug Administration allows blood to be sold, but major collectors such as the Red Cross have taken a stand against it out of fear that cash would incentivize donors to lie about contagious conditions and imperil recipients.
Nonetheless, the Red Cross website recently offered a $5 Amazon.com gift certificate for blood donors.
This story was produced with support from the National Institute for Health Care Management Foundation. The Eye is the online news site of the New England Center for Investigative Reporting, based at Boston University and WGBH public radio. Beth Daley can be reached at firstname.lastname@example.org.