Rare Genomics Institute Quantifies Crowdsourcing, Weighs in on Patient Engagement
Reporter: Aviva Lev-Ari, PhD, RN
By Allison Proffitt
July 30, 2015 | If you ask Jimmy Lin to describe his role in patient engagement, he may well compare himself to a jet pack.
The president of the Rare Genomics Institute sees himself as an empowering accessory for the true heroes: parents of children with rare diseases.
The Rare Genomics Institute is an international nonprofit organization born about four years ago whose mission is to connect patients and their families with the tools, knowledge, and experts necessary to understand the cause of their rare diseases. RGI believes understanding starts with sequencing, and so it partners with research facilities able to perform sequencing and provide a clinician or scientist who can interpret the data. RGI also hosts a fundraising platform to help families raise funds to access those resources.
Last month Lin was appointed by the Patient-Centered Outcomes Research Institute (PCORI) as a member of its Advisory Panel on Patient Engagement. The panel’s goal is to help PCORI refine research funding priorities and ensure that PCORI supports outcomes that matter to patients and other healthcare decision makers.
“It’s no longer researchers at the top and subjects at the bottom. We’re now calling them participants and they should have a role, and they should be able to get back their data,” Lin says. “They should be at the table from the very beginning… They should be acting as co-PI’s [principle investigators].”
That’s very much the case for RGI’s work, Lin says. Each family that applies to work with RGI gets a personal patient advocate. The advocate walks the family through the process to apply for sequencing and raise funds if necessary. While RGI does everything it can to help, a bulk of the work does fall to patients—or in most cases, a young patient’s family.
“We see the parents as the true heroes. They work day and night to see the child through the ups and downs. We see ourselves as the cheerleaders, as the jetpacks to the families, to help these amazing parents access the resources they need to.”
Peer Reviewing Crowdsourcing
While RGI can help with one of the biggest hurdles—access to experts—it does not have the funding to pay all of the fees associated with genomic sequencing and analysis. To bridge the gap, RGI set up a crowdfunding platform for its families.
The funding model is particularly interesting to Lin. He wanted to delve more into how crowdsourcing works to raise funds, but also how it can, “create a community, and educate that community about the scientific impact of genomic medicine.”
With a grant from the Templeton Foundation, in May RGI announced the Amplify Hope Initiative, a study of how crowdfunding can promote scientific research to help rare disease patients. In the first phase of the study, RGI interviewed experts in crowdfunding—individuals who have raised millions for their own children, companies who host crowdfunding platforms, and professional fundraisers—and gathered best practices.
Phase two launched in mid-June. Patients for whom RGI has determined medical need are eligible for the Amplify Hope Initiative. These patients need a physician referral and must show that they have exhausted other genetic panels and microarrays, and thus would benefit from exome sequencing. Two existing RGI sites, Ambry Genetics and Baylor Miraca Genetics Laboratories, will conduct the sequencing. Crowdfunding partners to the project include CrowdRise, Indiegogo Life and YouCaring.
Once enrolled, these patients will begin a free, 30-day Crowdfunding Bootcamp. “We’ve created a curriculum that includes everything we’ve learned,” Lin says.
The program will help families understand available fundraising platforms, plot campaigns, reach out to their networks, and leverage social media more effectively with eye-catching images and videos. Top fundraising experts will be conducting free webinars and offering remote support to showcase the most effective email templates and messaging strategies.
Meanwhile, RGI will be comparing incentive mechanisms and determining how various metrics predict the success of fundraising. When the study is complete, all of the findings will be shared. “At the end, we’ll be posting all of the best practices and making that free and available to everyone who’s interested,” Lin says.
Mr. Lin Goes to Washington
Lin will bring what he’s learned to the PCORI advisory panel on patient engagement as well. He already has a recommendation for how to better serve patients, particularly those with rare diseases for whom clinical trials are always N=1.
“As we move into the genomic era of medicine… we shouldn’t practice genetic exceptionalism in thinking that this is a super special test. Every other test we give back raw results. We should be able to give [genomic test] raw results.”
Lin acknowledges the challenges and advocates for education along with the returned data, but believes especially for rare disease patients having the raw data is crucial.
“For our patients who are on this diagnostic odyssey, the first interpretation may not give them the answer. If they want to take that data to another researcher they often are prohibited from doing that… Clinical genomicists are not doing reinterpretation most of the time. The onus is really on the patient.”
Pressed to clarify what he means by “raw results”, he advocates sharing what patients want—VCFs, aligned BAM files, even FASTQ files. “I think if patients really want their FASTQ files… that could be very helpful,” but he clarifies: “I don’t think all patients are going to ask for their raw data.”