Big data, already a fixture of big business, is also now in use in large-scale disease research. California-based 23andMe conducts huge genotyping analyses to identify disease risks and potentially preventive interventions. 23andMe has nearly 3 million customers in its database now, according to Robert Gentleman, PhD, vice president of computational biology at the company. The company sells its genetic testing services directly to consumers, who send saliva samples through the mail for analysis.
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23andMe conducts genotyping (but not sequencing) and has generated a panel of 23 million SNPs so far. These data reveal variability in the human genome that may drive development of new therapies for rheumatic diseases and others.
Customers join online to receive a saliva-based DNA kit in the mail. 23andMe analyzes the sample and sends the customer detailed data about their health risks. Customers may opt out anytime, and all the data are aggregated and de-identified for privacy.
23andMe says it has collected more than 800 million data points, and it divides its findings into disease-specific cohorts that may prove useful for rheumatology research, such as one cohort of nearly 50,000 psoriasis patients. Self-reported data aren’t always reliably accurate, he said.
Researchers use next-generation sequencing to develop more effective tests. A new blood test measures IgG4/IgG mRNA ratio in patients, which may show active disease in patients with granulomatosis with polyangiitis (GPA). Researchers in the Netherlands developed this IgG4 qPCR test to identify a key protein that correlates to high disease activity in GPA patients. GPA can lead to irreversible organ damage and has a 75% five-year survival rate, said Niek de Vries, MD, PhD, a researcher at Amsterdam Rheumatology and Immunology Center in the Netherlands.
A lack of sensitive, specific disease activity markers for GPA may lead to delayed treatment, undertreatment or overtreatment, said Dr. de Vries. Evidence points to a clear role for B cells, and results from this new blood test may help differentiate patients with active disease from those in remission.
Susan Bernstein is a freelance journalist based in Atlanta.
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