NEW YORK (GenomeWeb) – KT Pickard and his wife Kimberly decided to forgo the traditional health system route to figure out the cause of their daughter's autism. In just two months, they opened an Experiment.com account, raised $1,750 to cover whole-genome sequencing for their daughter, and obtained preliminary results from her sequence data that might explain the cause of her autism.
The Pickards are not the only ones tapping their social networks and beyond to raise money for genome sequencing, particularly to determine the molecular cause of rare disease.
There is increasing evidence that sequencing is potentially a better diagnostic tool for some rare genetic diseases than the traditional one test at a time. And even though the cost of sequencing is falling, there is a lingering reluctance by insurance companies to pay for such testing, which is leading some parents of patients to turn to crowdfunding.
"There is a whole untapped group of people that are looking for answers" to their or their children's rare disease, KT Pickard said.
Crowdfunding typically involves using an online platform to create a profile, describe the project and set a fundraising goal. Individuals then pledge to contribute a certain amount, but only pay if the project reaches its goal. The website Kickstarter has been popular among artistic and entrepreneurial types, while Experiment.com, the site the Pickards used, is geared toward scientific research projects.
For some, crowdfunding has provided a way for families to take charge of their medical care and even given them a sense of community. However, the prospect of using crowdfunding to pay for medical treatment raises some concerns. Sharing such personal health details online potentially opens the door for privacy intrusions or genetic discrimination. And not everyone will have the connections to raise the required funds.
"I hope crowdfunding [to pay for sequencing] does not become a trend," said Jimmy Lin, founder and president of the Rare Genomics Institute. "I hope that it becomes covered."
The Rare Genomics Institute is a nonprofit that acts as an intermediary between patients with rare diseases, academic laboratories that provide sequencing services, and patient advocates. The institute was one of the first to turn toward crowdfunding to raise money to pay for patients' sequencing. Recently, it announced it would host a 30-day crowdfunding boot camp to help train families on how to secure financing through crowdfunding methods.
Since launching in 2011, Lin said that Rare Genomics had seen about 400 families. For some, sequencing was covered by grant money, others have been reimbursed, and some have used crowdfunding, Lin said. He added that RGI is planning to publish a study that includes outcomes data from the families and whether one method of financing is more likely to result in a diagnosis, but said that, anecdotally, families for whom grant money is available tend to have a higher diagnostic rate. "There are specific criteria for patients to be eligible for grant money," he said.
The next-highest diagnostic rate is among those who are able to secure reimbursement, he suggested, since insurance companies often look at the likelihood sequencing will yield a diagnosis. The cases that resort to crowdfunding typically have the lowest chance of obtaining a diagnosis.
Nonetheless, he said, for a number of cases that were not eligible for a grant and were denied reimbursement, crowdfunded sequencing has yielded a diagnosis.
More than finding a diagnosis, though, crowdfunding may have other benefits.
KT Pickard said their campaign raised awareness about the use of sequencing. "We wanted to gauge how interested other parents of children with rare disease were in using this technique," he said, adding that the response was overwhelming. The Pickards raised the $1,750 in one day, and since then have raised an additional $2,500 to cover the costs of publishing their findings in an open-access journal.
Sense of community
Jeneva Stone had been through the wringer trying to get a diagnosis for her son Robert, who suffered from a variety of issues including speech and movement problems so severe that he is confined to a wheelchair. After 14 years of testing with no answers, the Stone family was referred to the Rare Genomics Institute where they learned of next-generation sequencing.
Stone knew that the odds were low, but wanted to go ahead with the sequencing regardless. Because the family's insurance declined to pay for it, the Stones made use of RGI's online crowdfunding platform.
Looking back on the experience, Stone said that while it would have been nice had insurance just agreed to pay for the sequencing, the crowdfunding experience ended up providing "a huge amount of emotional support," she said. "There was a community built up around this."
The idea of sharing such a deeply personal story online may be off-putting for some, but Stone said by that point, she did not have many concerns with regards to privacy. For one, she said, Robert understood what was going on and approved of the sequencing. Even though he cannot talk, he can indicate yes or no with hand gestures. In addition, his disabilities were "total," Stone said, so "we had few concerns that it would impact schooling or jobs. And we knew he'd be dependent or partially dependent on social services for medical care, so insurance discrimination wasn't an issue for us."
The Stones reached their $7,500 fundraising goal — which covered the costs of exome sequencing for Robert and both parents — within six weeks. Nine months later, they had an answer.
Robert has two very rare mutations on the gene PRKRA, causing a syndrome known as dystonia 16. Robert is only one of nine people to ever be diagnosed with dystonia 16. The diagnosis did not reveal a cure, but there are medications and treatments for dystonia and the RGI connected them with the Dystonia Medical Research Foundation in Boston.
Stone said the family is trying to figure out the next steps. Robert has many features that are somewhat atypical for dystonia. For instance, a brain scan revealed a significant amount of cell death, which is unusual for dystonias.
"No one knows what's causing that," Stone said. In addition, "Robert has as much spasticity as he does dystonia," she said. Many of Robert's symptoms suggest a mitochondrial disorder, but so far nothing conclusive has been found in the mitochondrial DNA, Stone said.
So, the search continues.
Ethical implications
The use of crowdfunding to pay for the sequencing of individuals with rare diseases raises a number of ethical implications, Sandra Soo-Jin Lee, an anthropologist and senior research scholar at the Center for Biomedical Ethics at Stanford, told GenomeWeb.
"It brings up issues of disparity and justice," she said. For instance, Lin's research into crowdfunding has found that those who are tech savvy and active on social media are more likely to be successful at raising the necessary funds.
Lee said that aside from just being tech savvy and having an online presence, individuals will also need connections to people willing and able to donate. "You do wonder about how this is going to scale across society in terms of those that are benefitting and those that just don't have access at all," she said.
Then, there is the issue of privacy. "In order to generate funding, you're revealing very personal medical information. And it's available for wide consumption around the internet," she said. "It's unclear what the implications are for the individual and his or her family."
And while the Stones were able to find a sense of community from sharing their story, others may find it intrusive. Jeneva said that she documents the ongoing progress with Robert and his diagnosis on a blog and on Facebook, in part because the people who donated wanted to know what happened.
Such crowdsourced funding for biomedical research and data sharing is "often characterized as democratizing," Lee said, "but the rules of engagement haven't been sketched out," in terms of managing the expectations of the patient and family, as well as those of the donors and the researcher or clinician, she said.
How these issues will be worked out going forward remains to be seen. For his part, Lin hopes that using crowdsourcing to pay for sequencing will just be an interim measure until insurance companies reimburse broadly — and that getting more cases funded and being able to generate more data on the use of sequencing as a diagnostic tool will help make the case to insurance companies to reimburse for the testing.
"Our strong hope is that as we're able to gain more evidence, it will become more standard and will potentially demonstrate cost savings," he said. The goal is to generate additional data "to convince insurance companies that getting a diagnosis is an important part of a journey, even if you can't do anything about it yet," Lin said.