The notion that disease can be prevented by identifying and treating healthy patients with risk factors continues to generate hope, hype and funding for fledgling companies. If only the science could keep up.
Mass Device reports that a local company founded by a pair of Tufts professors – Boston Heart Lab —has raised $10 million in funding from 46 investors. The company offers a range of services to pinpoint a person’s risk of heart disease.
To map the underlying mechanism for the patient’s CHD risk, Boston Heart Lab offers:
The most complete, individualized CHD-risk assessment to date, using state-of-the-art, proprietary testing developed by Boston Heart Lab for established and emerging risk factors.
The most complete, individualized insight into genetic and metabolic bases of cardiovascular health therapy options (lifestyle and/or pharmacological) to prevent or manage CHD based on your individual profile.
Boston Heart Lab can monitor the short- and long-term impact and effectiveness of therapies used in CHD-risk reduction on an individual basis. Our proprietary technology allows us to monitor drug effectiveness with a higher accuracy and speed than traditional tests.
This puts the lab in competition with a West Coast operation called the Berkeley Heart Lab which describes itself this way:
Berkeley Health Lab “provides cardiovascular disease (CVD) management tools and services with a distinctive focus on the secondary prevention market. Unlike other lipid testing companies that are focused on the primary screening market for CVD, our proprietary testing technology enables risk characterization and uniquely allows for ongoing therapeutic monitoring of a patient’s disease.”
Over at MedPage Today, Kristina Fiore looked at the recommendations Berkely Health Labs offered her father and wondered whether more work needs to be done before doctors start treating patients based on genes and not-so-well established biomarkers.
Sure, researchers have come a long way, being able to predict which patients will respond better to certain cancer drugs, and who will be less responsive to warfarin (Coumadin).
But advances such as these can sometimes make us forget that many physicians are often treading new territory when it comes to applying genetic medicine to their primary care practices.
That reality hit home last month when my dad had a cholesterol screen that revealed slightly elevated LDL (130 mg/dL). His physician was a bit concerned, so he called for additional testing, which looked at biomarkers such as homocysteine and CRP.
This test also screened for two genotypes — ApoE and KIF6.
ApoE I was familiar with, but KIF6 was a bit of a surprise. When I searched the literature, evidence for its use in clinical application seemed a bit scant.
There certainly wasn’t any guideline recommendation that primary care physicians use this marker in deciding whether to put patients on statins…
No professional groups or experts have recommended KIF6 testing in the general population yet — although payers appear to be paying for it.
The version of the test by Berkeley Heart Lab cost my dad $130 in copay — about 10% of the total cost. Those numbers can generate significant revenue, given that this genotype is found in 60% of the population. That’s quite a cost to the healthcare system.
The question is, should more work be done before this test works its way into more primary care offices around the country? For instance, do physicians know how to contextualize KIF6 results in terms of proven predictors of heart disease like age, cholesterol levels, smoking, and hypertension? And since most diseases are polygenic, shouldn’t we be looking for other genotypes in heart disease risk as well?
Or do you think this genetic test is really ready for prime time?
Which brings up the heart disease screening guidlines issued by SHAPE , the academic sounding Society for Heart Attack Prevention and Eradication (SHAPE).
The group’s proposed guidelines are the “public facade of a larger program designed to encourage the growth of, and take a larger share of, the business of cardiovascular screening. Although conflict-of-interest concerns have previously swirled around SHAPE, new evidence suggests that the non-profit organization has aligned itself with a commercial venture, and presumably stands to benefit from the success of these projects.”
And, moving from the heart to the brain and beyond, take note of the Health News Review posts on the coverage of possible screening for Alzheimer’s, as well as the American Cancer Society’s new ad promoting screening.
It strikes me that there’s a common theme between what was missing in the Alzheimer’s test stories and what bothered me about the ACS screening ad.
One of our story reviewers, journalist Andrew Holtz, wrote to me after reviewing the three Alzheimer’s stories:
“One general comment is the responsibility of journalists to word stories in a way that avoids lazy assumptions that “it’s better to know.” Not only do the results of this study document how many false positives this test would produce if used in isolation. Identifying someone as having (or likely to develop) an untreatable condition is likely to create great mischief while providing a benefit in only very specific circumstances."
Granted, the Cancer Society ad wasn’t about untreatable conditions. But it did promote the broad, vague “it’s better to know” concept, drumming that into consumers minds once again.
Holtz writes about “providing a benefit in only very specific circumstances.” Messages about screening also need to be specific – for specific audiences for whom the evidence is clear. Otherwise the messages may encourage screening in populations for whom the uncertainties mount, and for whom the potential harms may start to stack up with the potential benefits.
Sometimes you just need to step back, connect the dots, and see the firehose of “screen, screen, screen…test, test, test” messages that deluge the American public. And realize there has to be a better way.