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Big data used to help identify patients at risk of deadly high-cholesterol disorder

Familial hypercholesterolemia is not exactly a catchy name. But Stanford cardiologist Josh Knowles, MD, is determined to make it easier to remember. This little known, high-cholesterol disease is a silent killer. If you don’t know you have it, it can strike suddenly - and years before most people ever start worrying about heart attacks.

Knowles and fellow researchers at Stanford have launched a new research project aimed at identifying people at-risk of having FH. Using “big data” research methods and software that “teaches” a computer how to recognize patterns, researchers plan to comb through electronic medical records at Stanford hospitals and, if successful, pinpoint those who might have the disease and not know it.

In a story I wrote on the new project, Knowles described how this innovative technology could potentially be used to transform health care:

Machine learning, in which computer algorithms learn to recognize patterns within data, is widely used by Internet businesses such as Amazon and Netflix to improve customer experience, get information about trends, identify likes and dislikes and target advertisements. These techniques have not been widely applied in medicine, but we believe that they offer the potential to transform health care, particularly with the increased reliance on electronic health records.

Using these methods to help identify patients with FH is a good place to start, Knowles said, since there are currently few systematic approaches to finding people with FH, and many doctors are unfamiliar with the disease. As he told me:

This disorder certainly leads to premature death in thousands of Americans each year ... Less than 10 percent of cases are diagnosed, leaving an estimated 600,000 to 1 million people undiagnosed. If found early enough and treated aggressively with statin-based regimens, people can live longer, healthier lives.

The project is part of a larger initiative called FIND FH (Flag, Identify, Network, Deliver), a collaborative effort involving Stanford Medicine, Amgen Inc., and the nonprofit Familial Hypercholesterolemia Foundation to use innovative technologies to identify individuals with the disorder who are undiagnosed, untreated, or undertreated.

Previously: Registration for Big Data in Biomedicine conference now open, Hope for patients with familial hypercholesterolemia and Born with high cholesterol
Photo by Dwight Eschliman

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