FH

"We have all of these evidence based tools and evidence based methods, but the problem is it can take upwards of 20 plus years to be truly implemented into care where healthcare providers are using them and patients are receiving them. And this includes medications and diagnostic tools and other types of treatment or screening.”

Amy Sturm is a Professor and Director of Genomic Counseling and Screening at Geisinger. She’s describing here one of the core issues in precision medicine today. Of course, many of the therapies and genetic tests which have been invented have been adopted into standard of care. But many have not. And why not? Take the case of FH, or familial hypercholesterolemia. This particular test has been the core focus of Amy’s career, and she has a grant from the NIH to study its implementation into healthcare.

One of her recent papers begins: "Familial hypercholesterolemia (FH) is the most common cardiovascular genetic disorder and, if left untreated, is associated with increased risk of premature atherosclerotic cardiovascular disease, the leading cause of preventable death in the United States."

And yet, FH is still only 85% diagnosed.

So what is the end goal? Where do we need to be in healthcare as regards this particular test? And how do we get there?

There is a new field of science to address these questions, says Amy, which she explains here. Like most scientific disciplines, it's named directly: implementation science.