This was an interesting and informative story about genetic research to uncover the causes of heart disease in people who don’t have the usual risk factors. The story engages readers by focusing on the extraordinary tale of one family that suffers from a high rate of premature heart disease. Though fascinating and frightening, this family’s harrowing experience holds limited value for the rest of us — and the story should have that clearer. Most cardiovascular events are effectively predicted by existing risk factors, and doing a better job of controlling these risk factors is the best way for must of us to prevent a heart attack or stroke.
This story says that “many” people who die young from heart disease don’t have obvious risk factors. But it never says how many. According to some estimates, 90% of cardiovascular events could be prevented by better identification and control of existing “traditional” risk factors like high cholesterol and blood pressure. So even as we search for new methods to identify and treat heart disease that can’t be explained by current risk factors, let’s not forget that these existing risk factors still hold tremendous untapped value. Another important point is that blood pressure and lipids are continuous risk factors so they are not just “yes/no” issues in our lives.
There’s no telling what any tests or treatments commercialized from this research might cost.
The story suggests that the purpose of this research is to “see if genetics can explain why heart disease strikes apparently healthy people.” But how many people are we talking about who might benefit from this information? The story doesn’t say. And even if we can identify these “apparently healthy” people, will treating them with existing medications (which mainly target the traditional risk factors) improve their outcomes? Or will new medicines be developed that can treat them? Again, the story does not address the issue.The story should have explained that for most of us, traditional risk factors are very effective at predicting who is at increased risk of heart disease and should receive preventative treatment. It’s only toward the end of this long story that we learn that this family must have a “rare” mutation that causes their disease through some other pathway. This information should have come much sooner, and with more detail.
There are several “harms” embedded in this story in the way it is framed – worry, anxiety, and a sense of foreboding. Yet those harms are mostly unexplored in a meaningful way. “Better” tests won’t help unless they also identify better treatments, and there is little or no critical attention paid to potential interventions here – just a tossed off one-liner about the women who gets a stent after the first episode of stable angina, and the implied sense that stenting and bypass are used to prevent heart attacks and death.
The story introduces some notes of caution, acknowledging that this is very complicated research and that there is “no guarantee of success.” It notes that researchers can’t even be sure that the heart disease in this family is caused by the kind of genetic mutation that the researchers are looking for.
As already noted, the story ignored evidence about who is helped by stenting and bypass surgery.
The story describes this research through the prism of a single family with a strong history of early atherosclerosis, which is a risk factor for clinical events, but not a fait accompli. The story makes no attempt to quantify how common this situation is. The story should have made it clearer that most cardiovascular disease occurs in individuals with traditional risk factors, and that addressing these factors is an effective way to reduce risk.
A number of qualified experts weigh in regarding the significance of this research.
Dozens of novel risk factors, such as C-reactive protein, have been proposed to more accurately identify individuals whose cardiovascular risk is not appropriately predicted by traditional risk factors. The use of these novel risk factors is controversial. The story should have addressed this evidence. What about the Framingham risk score?
Not applicable. Any tests or treatments based on this research are many years away.
This research is certifiably novel, although other studies have looked for genetic determinants.
There is enough original reporting here that we can be sure the story wasn’t based on a press release.
Systematic, Criteria-Driven
The tale of two “negative” studies. Or, how spin is applied to make research findings look more impressive. A must read. https://johnmandrola.substack.com/p/the-tale-of-two-negative-studies
The @nytimes chose to interview one of the editors of the @AnnalsofIM (publisher of this paper) who "gushed with extraordinary glee: It’s huge! There are very few things that reduce your mortality by 30%."
Turns out coffee is not one of those few things despite all that glee. https://twitter.com/garyschwitzer/status/1533202075928215558
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