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At-home gene test stirs up debate


5 Star

At-home gene test stirs up debate

Our Review Summary

This is an excellent story that used a concrete example (i.e. bipolar disorder) to highlight the pitfalls involved with the use of genetic test kits for gene alleles.  Rather than write a story heralding the first commercial availability of a test to identify genetic markers associated with risk of bipolar disorder, this was a thoughtful piece that presented both the hope and the hype associated with the product.  While failing to provide concrete estimates for the benefit from the product or diagnostic alternatives, the story painted an accurate picture of the uncertainty for deriving benefit.


Does the story adequately discuss the costs of the intervention?


The story mentioned that the test carried a $399 price tag. Of course there are larger cost perspectives.  If this diagnostic test truly has value, it might lead to more targeted therapy – perhaps decreasing overall medical costs.  If it is a poor test, it may increase medical costs beyond the initial $399 for the test itself.

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


The story included discussion about how this test might be of benefit; it did not include quantification of benefit (i.e.:how much faster could it enable a clinician to make a diagnosis?) though one of the points of the story was that the actual benefit of this test was somewhat imprecise.  Lastly – the statement that any information is good is a red herring.  However, we’ll again give the story the benefit of the doubt on this criterion.

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

Not Satisfactory

The story discussed problems associated with false positive or false negative results.  It mentioned that physicians might not have the appropriate training to understand what to do with the results of the test and could make, what an expert quoted in the story described as "foolish decisions"

The story mentioned that this and other genetic test kits prey on individuals’ deepest anxieties. 

That said – there are many more harms possible.   Creating the precedent for direct marketing of lab tests – even if the results go to the doctor carries significant risks.  It could prey on peoples’ insecurities, cause financial harm, adversely affect the patient-clinician relationship, and lead to other family members of test positive patients (family members without symptoms) getting a meaningless test due to worry. 

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


It was good that the story pointed out that there is little oversight for the accuracy of genetic test kits.  

Overall the story did a good job; it gave data such as 1% rate of genetic abnormality in unaffected vs. 3% in bipolar patients.  It said, "The report that accompanies those results instructs doctors that a positive test means patients are two to three times more likely to have bipolar disorder." If the reporter had gone the next step, it would have been even better. For example, if someone has no symptoms of bipolar disorder, then the likelhood of current bipolar is 0% – so a 2-3 time increase in risk is still 0.  For someone with many symptoms, the risk of bipolar disorder might be 50-60% (rough estimate) and an abnormal test might increase that substantially. Granted, interpreting the quantitative data for readers may be difficult but it would have been helpful to put it into terms that were easier to understand.

But in discussing why the test was useful, the company founder said that it was important "even if it just helps a little bit".  The story should have noted that this lack of quantification of benefit is problematic.

We’ll give the story the benefit of the doubt on this criterion.  


Does the story commit disease-mongering?


The story did not engage in overt disease mongering.

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


The story included quotes not only from the scientist who developed the test discussed, but from several experts in the field.

Does the story compare the new approach with existing alternatives?

Not Applicable

The story did not make clear how diagnosis of bipolar disorder with the test vs. without the test differed.  However it would appear that this may have been intentional as it isn’t actually clear how diagnosis of this disorder is dramatically altered in the era where this test is available.

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


The story mentioned that this was a commercially available product.  (Though it failed to mention that this test would likely not be covered by insurance, it also did not imply that it would. This, of course, will affect availability.)

Does the story establish the true novelty of the approach?


The story was clear that the test for bipolar disorder it described had been commercially available for about a month.  It also mentioned that there about 1000 other test kits (for other genetic traits) which are available.

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


Does not appear to rely on a press release.

Total Score: 8 of 9 Satisfactory


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