After a "High Risk of Recurrence" diagnosis in 2014 for a rare, terminal and untreatable kidney cancer, I was faced with many of the same challenges encountered by so many others with rare cancers. To learn more, I started attending Kidney Cancer conferences, spoke with specialists in the field, and began working with researchers and patient advocates to help expand the scope of their work and the breadth of their involvement in the area of these less-common cancers by creating a new organization dedicated to that purpose, rarekidneycancer.org.
But although the conferences are great, the research promising and the help appreciated, there has been no improvement in “Overall Survival” and barely any research in treatment for my type of cancer over the last ten years. (Laurence Albiges 2017)
This ‘lack of progress’ is common for rare diseases. Why? Because ultimately, much (not all) of therapeutic research effort goes to where the money is. And the rare disease market is not very big, so it receives undersize attention.
I believe we can change this by taking advantage of another artifact of the current system: siloed patient data. Altruistic, capable researchers, who are actually able to contribute to research on their own time, can’t do so because the data they require is “owned” by someone else. Why? Because patient Data is valuable. It is grist for pharmaceutical development revenue and academic research grants. So the owners make it hard to access. Even data that American tax payers have paid to collect can only be fully accessed by researchers from “recognized research organizations”. So how can we, patients with rare, untreatable, terminal diseases, get data to the researchers that can help us?
We can make our data public. Accessible to everyone, everywhere with no hassle. In a market economy, attention is focused on valuable objects that one can get free. Graduate students doing research on “big data” are looking for large datasets to analyze. Let’s give them rare disease DNA data, RNA data and clinical record data. Since common disease data is sitting behind a paywall, the ‘market’ ought force disproportionate attention to this “easy to access” rare disease data.
HIPAA, the federal law governing patient data actually facilitates this. It recognizes that a patient’s data ultimately belongs to the patient, and that patient can give it away or donate it if they wish. This is fortunate, since although the majority of patients are concerned with privacy, rare disease patients are more concerned with survival.
Your Patient Advocacy Organization can often facilitate this donation. Other organizations exist which facilitate its distribution. openhumans.org is a distribution platform which my organization, rarekidneycancer.org, is using to store its data.
But in the evolving world of cancer research, what kind of value can we, the patients, get from public data? One example comes from a project submitted to an upcoming papillary kidney cancer hackathon run by rarekidneycancer.org and SVAI. This project analyzes a GEM (Gene expression matrix) created by Clemson’s Leland Dunwoodie. 60,482 genes measured in 11,102 tumors across 33 cancer subtypes (including 3 kidney cancers) from The Cancer Genome Atlas. It asks a simple question. “Which cancers are similar”? This is a good question, because similar cancers may respond to similar drugs, and so drugs used by rare cancers may then respond to drugs used in similar, mainstream cancers. I like this approach. A lot. Because data contributed by everyone, shoulder to shoulder, united in a common mission to provide answers to everyone.
If you have a rare untreatable terminal condition, then you recognize that the world can be a capricious and unfair place. But you can also can reimagine your role in it. For example, if you have had your genome sequenced, ask your patient advocacy organization about contributing your data and putting it in the public domain.
If you are having trouble doing this, or if you are a researcher interested in contributing code or getting Leland’s GEM, if you want to join the next hackathon or hold one for your own disease, or even if you simply want to keep abreast of how this develops, please let me know at firstname.lastname@example.org.
Also, if you want to see how I am trying to use public data, check out my "Social Network" post.