November 06, 2018 : Last month the Nonfiction Society featured Rare Genomics Institute (RG) in a science documentary, which aired in German public television on September 13th, 2018. The documentary highlights “Medical research on the move, where organizations take initiative instead of blaming failing healthcare gaps or the pharmaceutical industry.” It is completely in German, but below is a synopsis of what RG contributed.
The documentary began by talking about the success of the Ice Bucket Challenge for ALS. It garnered over $100 million dollars of donations within a month of their campaign. During that time frame, over 28 million people joined the challenge by posting, commenting or liking a challenge post, Facebook said. Famed leaders and celebrities including Bill Gates, Charlie Sheen and Cristiano Ronaldo produced videos with about 16 million in views on YouTube at the time.
Through interviews with scientific experts worldwide, the documentary aimed to show the novel ways of funding medical research. They highlighted RG’s efforts for patients with rare diseases and interviewed Romina Ortiz, COO and VP of Patient Advocacy, to learn more about the Amplify Hope Study and current efforts by RG.
Through Amplify Hope (Published findings in the Interactive Journal of Medical Research at Engaging a Community for Rare Genetic Disease: Best Practices and Education From Individual Crowdfunding Campaigns), RG created a program to help rare disease families crowd fund to pay for needed genetic testing. The testing was for an undiagnosed rare disease child that had remained undiagnosed for an average of 7 years and had already seen 7 different specialties of physicians in search for a diagnosis. While the cost of clinical genetic sequencing has gone down, the cost for analysis is still significant, and families without support from insurance must pay out of pocket. For the study, a goal of $5,000 was reached with partnering sequencing labs. All of the money raised went directly to the labs for the child’s sequencing.
In the past, some families were able to raise funds in a few hours, while others took a month, 3 months and sometimes longer to raise the funds needed. Just like what was found in the past, Romina explained that we saw these differences in the Amplify Hope Study. Families with larger networks, a stronger social media presence, and more engagement were more likely to raise the funds. However, she explained that with such a small sample size (11 campaigns), it is hard to understand the situation of families with children that had rare diseases and really quantify their ability to raise funds.
“In general, not all people are active on social media, and not everyone is comfortable asking for money. For rare disease families, they have been through so much over many years, they often feel bad asking anymore from their networks.”- Romina Ortiz
After the conclusion of Amplify Hope, Romina began to look for new ways of bridging the pay gap for her families. Not all families had insurance, and those that did often received denials from their plans stating that the test was “considered experimental.” Romina explained, that for rare disease patients, often times basic single and even panel gene testing was performed and returned negative. Because the patients that came to RG had remained undiagnosed for an average of 7 years, the genetic disease was more likely to be complex and often completely new. This was why RG was founded in 2011 to help families access clinical whole exome and now whole genome sequencing, the most comprehensive and least biased form of genetic testing there is.
Through her search for support, Romina was able to work with a key player in genetic sequencing. Illumina Inc. is an American company that develops and markets the systems used for the analysis of genetic variation. In other words, they create the machines and software for the testing that RG patient’s need. Conversations in 2014 led to the development of the iHope program, which launched in December 2016. iHope is a philanthropic program where undiagnosed rare disease children can receive needed free trio whole genome sequencing.
The Nonfiction Society included two of RG’s own patient videos in the documentary. Joaquin is a child from Chile that found his diagnosis with RG through iHope. He had been fighting an unknown disease for six years, since he was three years of age. With his diagnosis, his parents are looking for therapies that can help with his Dystonia. The other video highlighted was about the Van Brocklin children, who received a confirmed diagnosis and genetic testing finding, allowing both of them to receive referrals to specialists for specialized therapy. The iHope program has continued to this day, and continues to expand.
RG is still a small organization, but has found ways to make a BIG impact for its patients. What lies next is for RG to find support for the organization itself, to be able to sustain its volunteer-led work, and help even more patients. RG does not have operational funding sources, and depends solely on donations.