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Would routine genomic testing for cancer and heart risk make economic sense?

30 Jul 2018 at 12:00 AM

If all adults were to have their genes sequenced during their annual physicals this year, the vast majority of us would not learn anything that would change our medical routines going forward. But an estimated 1% of Americans—at least 3 million people—would find genetic abnormalities that greatly raise their risk of cancer or heart disease. And that, says Yale School of Medicine genetics expert Michael Murray, would make all of that testing worth it, not only to those individuals, but to society as a whole.

Even if each person had just 10 genes tested, the benefits would outweigh the costs, argues Murray, who wrote an article published today in the journal Annals of Internal Medicine that urges health systems to embrace routine genomic testing. That’s because such testing would reveal “actionable” gene mutations—well-known risks for diseases that can be avoided with specific screening or prevention methods. “So we’d be very focused on what we understand best and what we can do something about,” said Murray, director of clinical operations at Yale's Center for Genomic Health, in an interview.

The three conditions are Lynch syndrome, a hereditary form of colon cancer and other cancers; breast, ovarian and prostate cancers caused by mutations in BRCA genes; and familial hypercholesterolemia, an inherited disorder in which the body can’t eliminate LDL cholesterol, leading to early cardiovascular disease. Familial hypercholesterolemia can be managed with medication. Lynch and BRCA-related cancers can be detected early, when cures are possible.

“Those are three conditions that we know enough about that if we find a risk in a patient, we know what to do with that information and how to manage that risk,” says Murray, who served as the director of clinical genomics at Pennsylvania-based Geisinger before moving to Yale in April. “Those are poster children for rolling out a genomic screening program in any population.”

But does it make economic sense? Geisinger is at the forefront of a broad effort to answer that question. Health economists have modeled the risks and benefits of routine genomic screening in various ways, Murray says, but no data has emerged yet to provide black-and-white answers about whether the benefits justify the costs.

In 2014, Geisinger collaborated with Regeneron Pharmaceuticals to sequence the DNA of more than 200,000 volunteers in its system. That resulted in more than 500 patients receiving reports of genetic risk for cancer or heart disease, the company said this May. Now Geisinger is preparing to roll out routine DNA sequencing for all of its patients.

Geisinger’s initial list included 76 genes covering 27 diseases. Some of those are quite rare, like retinoblastoma, an eye cancer that’s diagnosed in only about 300 children in the U.S. each year. Others are difficult to manage, such as a heart condition called long QT syndrome that can cause sudden cardiac death. There are treatments for the disorder but they’re not cures. That’s why paring down the list to 10 genes for wide population-wide screening would make more sense, Murray argues.

In his journal article, Murray offers routine newborn screening as an analogy that helps explain the potential benefits of genomic screening. When newborn testing started more than 50 years ago, it included only one disease. Now there are more than 30 diseases in the screen. Genomic testing could be rolled out in a similar fashion, starting with 10 and growing from there as the scientific community learns more about genetics and disease risk.

As for the cost-benefit analysis of genomic screening, Murray advises the medical community to think beyond the impact of the results on individual patients. For example, Lynch syndrome, BRCA mutations and familial hypercholesterolemia are associated with serious illnesses being diagnosed in very young people. “You’re talking about people who might develop cancer or have a heart attack or stroke in their 30s, 40s or 50s,” Murray says. “So when you think about the economic benefits, you’re talking about not only intervening early, but also potentially keeping somebody healthy during their working life, and on after that.”

What’s more, Geisinger estimates that for every abnormal gene that’s caught early, physicians can identify about three additional cases of that same disease-causing gene within the same family, Murray says. That’s another factor that should be considered, he believes, in any cost-benefit discussion around genomic screening. “There’s a benefit not only to that person, but potential benefit to their family members,” he says.

I am a science journalist and author of the book Heal: The Vital Role of Dogs in the Search for Cancer Cures.


 The original version of this article appeared here.  

Category: Research Articles
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