CNN profiles Black Swan Research Initiative’s innovative iStopMM project and asks “Why Iceland?”
March 01, 2017
CNN profiles Black Swan Research Initiative’s innovative iStopMM project and asks “Why Iceland?”WRITTEN BY: Brian GM Durie MD
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.
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. Durie sincerely appreciates and reads all comments left here. However, he cannot answer specific medical questions and encourages readers to contact the trained IMF InfoLine staff instead. Specific medical questions posted here will be forwarded to the IMF InfoLine. Questions sent to the InfoLine are answered with input from Dr. Durie and/or other scientific advisors and IMWG members as appropriate, but will not be posted here. To contact the IMF InfoLine, call 800-452-CURE, toll-free in the US and Canada, or send an email to firstname.lastname@example.org. InfoLine hours are 9 am to 4 pm PT. Thank you.