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STAT puts $950 DNA-based fertility test under the microscope


5 Star


Can a genetic test really boost your odds of becoming pregnant?

Our Review Summary

23andMeTests for genetic variants associated with problems linked to infertility are becoming increasingly available, and this story characterizes a new battery of those tests, marketed under the name Fertilome, that professes to be the latest in fertility management.

The story does a thorough job of describing the test and bringing home the crucial point that the type of risk information provided by Fertilome may be more anxiety-producing than helpful to many women. There is as yet no clear causal link between many genetic variants and pregnancy problems, so the kind of relative risk information provided by the test requires substantial contextual information and counseling.

Unfortunately, the company has begun marketing the test directly to women, including those who have not yet embarked on efforts to conceive, possibly making that context even harder to obtain. This STAT story provides just the kind of enterprise reporting the public needs to encourage caution.


Why This Matters

It is tempting to look for genetic variants that might underlie disease, in part because we now can.  But this kind of information—whether intended to inform infertility problems or other health risks—has meaning only within contexts that illuminate the nature of risk and the complexities of each individual’s situation. Stories about genetic tests need to bring those points home, and this one does a fine job of that.


Does the story adequately discuss the costs of the intervention?


Cost—since the test is not covered by insurance—gets a prominent spot in this story. Well done.

Does the story adequately quantify the benefits of the treatment/test/product/procedure?


A primary goal of the story is to drive home the point that benefits are highly uncertain. The text is clear about the intended benefit, to provide genetic information that could inform a woman’s reproductive decisions.  But it also tells the reader, in no uncertain terms, that there is as yet “no evidence” that the test actually accomplishes that. It even busts the company for using fictitious patient anecdotes to sell women on the benefits of the test.

A strong point for the story is its characterization of one woman’s increased risk of a condition known as primary ovarian insufficiency, which the test notes is 4-fold higher than in women without a specific genetic variant.

That sounds alarming, and might prompt a younger woman who’s planning to delay pregnancy to freeze her eggs to be sure she has them available down the road. But the report does not explain that the condition is fairly rare — affecting just 1 in 1,000 women by age 30 and 1 in 250 women by age 35 — so the absolute risk is still very small.

We have a primer on the difference between relative and absolute risk that readers can turn to for more information.

Does the story adequately explain/quantify the harms of the intervention?


One of the strengths of this story is its explanation of the actual risk to a woman with a particular genetic variant identified by the test.  The test results cast risk in terms of relative likelihood (i.e., they determine if a woman is more likely, as a result of a genetic variant, to develop a specific condition that could affect her ability to get pregnant) while the story supplements that with numbers characterizing the “absolute” risk (that condition is rare in the first place, so even an increased risk is small in absolute terms).  Sources in the story also identify another harm: misinterpretation of results can heighten anxiety. The story could have gone further, to contemplate the possibility that women may make wrong decisions based on the incomplete information provided by the test.

Does the story seem to grasp the quality of the evidence?


On the one hand, the text explains that the Fertilome test draws on thousands of studies of associations between genetic variants and fertility problems. But it also goes into some detail about what the test cannot do, specifically, forge a causal connection between those variants and the problems and recommend next steps.

Does the story commit disease-mongering?


Inability to conceive haunts many women, and genetics clearly plays some kind of role in the problem. But scientists are far from sure about the nature and extent of that role. Genetic testing may well evolve into an effective component of a diagnostic effort. But this company’s recent efforts to market this unproven test directly to women, even those who have not yet tried to get pregnant, strays into disease mongering on the part of the company itself. The STAT story explores that new development thoroughly.

Does the story use independent sources and identify conflicts of interest?


The company’s CEO is clearly identified. Physicians who serve as sources and who have used the test are distinguished from those who have not.

Does the story compare the new approach with existing alternatives?


The story would have been stronger had it provided more information about traditional diagnostic efforts. However, there was a useful comparative effort that was anecdotal, at the end of the story. A woman struggling with infertility, offered the test, asked her physician if the test’s results would change the treatment strategy.  The answer was “no.”

Does the story establish the availability of the treatment/test/product/procedure?


The text is clear that the test has been available since January 2017 and has been utilized by some doctors.

Does the story establish the true novelty of the approach?

Not Satisfactory

Many fertility clinics offer genetic testing. It is possible that Fertilome is unique to the extent that it looks for nearly 50 genetic variants. But the story doesn’t clearly explain how this is different from other genetic tests that may be offered to help couples conceive.

Does the story appear to rely solely or largely on a news release?


This enterprise story goes far beyond any information provided by the company marketing Fertilome.

Total Score: 9 of 10 Satisfactory


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