Product innovation
deCODE's scientific leadership over more than twenty years has enabled it repeatedly to pioneer new types of partnerships, products and applications for many aspects of precision medicine. Between 1998 and 2004, the company signed high-profile and innovative partnerships with pharmaceutical companies Roche, Merck, Bayer, Wyeth and others. These alliances provided research funding to advance deCODE's work, with goals of finding genetically validated new drug targets in common diseases; to develop DNA-based diagnostics, that could gauge risk of disease or predict drug response and identify patients most likely to benefit from a drug; and to design "information-rich" clinical trials that would enroll participants with particular genetic variants, with the potential to make trials smaller, more informative, and with a greater chance of success.[58]
In 2002, deCODE acquired a Chicago-based medicinal chemistry company in order to discover compounds based on its genetics discoveries and so to begin to develop its own pipeline of new drugs.[59] Over the next few years the company initiated and completed several early-stage clinical trials for potential new treatments for heart attack, peripheral artery disease, and conducted work with partners on asthma and SMA.[60] These were early examples of what would today be called 'precision medicine' programs: using genetics for target discovery and to select trial participants by testing them for disease susceptibility through the same pathway targeted by the drug.[61]
In the mid-2000s, deCODE launched a new kind of risk diagnostic focused largely on prevention and wellness. These DNA-based diagnostic tests detected genetic variants identified by deCODE and others that correlated with significantly increased individual risk of common diseases including heart attack,[62] atrial fibrillation and stroke, type 2 diabetes, common (non-BRCA) breast cancer, prostate cancer and glaucoma.[63] The type 2 diabetes test, for example, was based on published studies that showed that approximately 10% of people carried two copies of deCODE's highest impact risk variant, putting them at twice the average risk of developing diabetes, independent of obesity. The medical purpose of the test was "to identify prediabetics at higher than average risk of progressing to full-blown diabetes, and that these same individuals can effectively counteract this added risk through weight loss and through the use of certain medications."[64]
Another novel characteristic of these tests was the integration of multiple, well-validated genetic risk factors. The overall impact of these different risk factors was combined and calculated into what was called a polygenic risk score, placing the individual on a spectrum of risk with regard to that of the population in general, independent of and in addition to other health or lifestyle risk factors.[65] With each new discovery, deCODE could broaden the risk factors tested. The idea was to make screening and prevention strategies and therapies more specific and more effective for those at higher risk, and hopefully to provide new incentive for individuals to follow through with well understood lifestyle modification such as weight loss, smoking cessation, etc.[66] This was the essence of what was then called personalized medicine, but because these tests were new, their medical usefulness was as yet unproven. As everyone is by definition at risk of common diseases, and doctors generally understood genetic risk only as it referred to rare diseases, the medical community approached these tests with skepticism.[67] In 2018, advocacy for the use of polygenic risk scores for identifying those at significantly increased risk of common diseases, and using whole-genome data and new algorithms to build on many early deCODE markers, began a revival.[68]
To judge by the intense media coverage of deCODE's discoveries, ordinary people were very certainly interested in these genetic risk factors and how they might be relevant to their health. In late 2007, the company effectively launched the field of personal genomics with its deCODEme[69] direct-to-consumer (DTC) scan aimed at enabling people to better understand their risk of common diseases and use this information to stay healthy. deCODEme hit the market a day before the now widely known, Google-funded 23andMe.[70] deCODEme's marketing emphasized its pedigree, seriousness and scientific rigor: "provided by a world leader in the discovery of genetic risk factors for disease...[so that its customers] benefit directly from the knowledge and experience of scientists carrying out internationally renowned research" (its competitors used deCODE's published variants as the basis for many of their results); with the scan processed in the same labs that had found them. By 2012, the deCODEme complete scan measured one million SNPs and calculated risk for 47 common diseases and traits as well as basic information on maternal and paternal ancestry, noting that most ancestry scans of the period were not back by much data.[71]
Despite deCODEme's emphasis that its results were for informational purposes — "a roadmap to improve your health" — and the provision of genetic counseling for users who had questions about their results, US regulators quickly took a critical view of disease risk assessments being put directly in the hands of consumers.[72] In June 2010, the FDA wrote to deCODE[73] and its main competitors to say that they considered such scans to be medical devices requiring FDA approval.[74] Facing regulatory headwinds and then corporate reorganization, deCODE stopped selling deCODEme in late 2012.[75] In 2017, the FDA began to approve certain assessments of genetic risk for disease in consumer tests.[76]
In 2018, deCODE broke new ground with a direct intervention in public health and the first national genetic screening program of its kind. The company launched a website that enables anyone in Iceland to ask the company - free of charge - to search their whole genome sequence data to determine whether they are likely carriers of a SNP in the BRCA2 gene that confers high risk of breast and prostate cancer in Iceland. Within months, ten percent of the population had requested their BRCA2 status, and the National Hospital has built up its counseling and other services to help people follow up on their preliminary results and use the information to protect their health.[77]
