CNN profiles Black Swan Research Initiative’s innovative iStopMM project and asks “Why Iceland?”
CNN’s Chief Medical Correspondent Dr. Sanjay Gupta and his team traveled to Iceland last week to explore the country’s innovative medical projects. During their visit I was honored to have been interviewed by Dr. Gupta, along with Dr. Kári Stefánsson, Founder and CEO of deCODE Genetics, and Dr. Sigurdur Kristinsson of the University of Iceland, Principal Investigator of the IMF Black Swan Research Initiative’s iStopMM project.
As with nearly everyone who learns of the iStopMM project, Dr. Gupta asked, “Why Iceland?” A large part of the answer relates to numbers and genetics. The population of Iceland is approximately 325,000 people, of which 120,000 are over age 40 years. By screening the 120,000 for signs of the precursor state to myeloma—monoclonal gammopathy of undetermined significance (MGUS)—the project’s researchers will learn a great deal about the 4% or so who will have MGUS. This will be over 4,000 people.
click the image above to watch the full CNN interview
Unique genetic resource
Another reason Iceland has become such a rich source of medical research is due to the work of Dr. Stefánsson. Starting in 1996, he and his team conducted full DNA sequencing for 2,636 Icelanders, plus testing for approximately 10,000 gene variations linked to disease for an additional 100,000 people. Approximately 20 million gene variants have been identified. Many of these were linked to diseases—especially neurological diseases, which were the primary focus for initial research. Four very important papers were published in 2015 alone, which led to an article about deCODE Genetics in WIRED magazine.
Because of the close family homogeneity in Iceland over the past 1,000 years, the DNA sequencing of the entire population is known either directly or by what is called “imputation” (figuring it out from family genetic trees). There is no genetic resource like this anywhere on the planet!
Accelerating myeloma research
The iStopMM testing in Iceland of 4,000 MGUS patients will allow us to look for linkages to particular family gene patterns. One especially helpful pattern occurs when genes are missing or “knocked out.” This could tell us that a gene is needed to prevent the development of MGUS. Another possibility is that a gene is really turned ON or susceptible to being turned ON by inflammation, or activated by a toxic chemical. While in Reykjavik last week, Dr. Stefánsson urged Dr. Kristinsson and me to get the data to the deCODE research geneticists as soon as possible. The chances are very good that answers will be found to help the IMF’s Black Swan Research Initiative® team understand the biology of why people develop MGUS and how it might be prevented.
Another important answer to the question “Why Iceland?” is its highly connected and community-oriented population. If presented with a research project to help Icelanders (and people everywhere), Icelanders are enthusiastic about participating—even if, as is the case for iStopMM, blood-testing and other investigations are involved.
Social media has played an important role here. Iceland’s residents are among the most active on Facebook. Tell one Icelander, and many friends will learn about iStopMM. This has proven to be a remarkably effective tool for trial accrual in Iceland, and a model for elsewhere. Thus far, close to 70,000 of the required 120,000 people have signed up for the research project, even before follow-up PR and outreach efforts have begun. Once patients grant permission, researchers can access participants’ complete electronic medical records (EMR), detailing surgery, medications, allergies, and any established diagnoses. What a resource!
Closing in on the Black Swan Research goal
Numbers and genetics gleaned in Iceland can lead to amazing answers. Special testing of MGUS and smoldering myeloma (SMM) patients will identify which patients progress to full-blown disease, giving us the precise criteria needed to reliably and safely treat patients early. This is the goal of the Black Swan Research Initiative—to achieve cure with early, definitive intervention. Results will both guide therapy in Iceland and better inform entry into one of the two Black Swan “Cure Trials”: CESAR (in Europe) and ASCENT (in the US).
Thus, although we are learning many things from the 30-plus Black Swan Research projects going on around the world, the iStopMM project is truly unique. While it cannot easily be replicated elsewhere, there is really no need to do so because the results from Iceland will contribute long-awaited key answers for the global myeloma community.
The CNN visit brought the iStopMM team, including IMF President Susie Novis Durie, together for invigorating group discussions to speed our efforts to get the answers we all need. We appreciate the opportunity to educate viewers about myeloma and about the IMF’s efforts to find a pathway to a cure. Look for CNN’s report from Iceland to begin airing mid-March.
Dr. Brian G.M. Durie serves as Chairman of the International Myeloma Foundation and serves on its Scientific Advisory Board. Additionally, he is Chairman of the IMF's International Myeloma Working Group, a consortium of nearly 200 myeloma experts from around the world. Dr. Durie also leads the IMF’s Black Swan Research Initiative®.