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A Genetic Test for Prospective Parents


3 Star

A Genetic Test for Prospective Parents

Our Review Summary

 This Wall Street Journal story hits many of the right marks when describing a test created by a Silicon Valley start-up, Counsyl Inc., that allows prospective parents to determine  whether they carry genes that could lead to their children having specific hereditary diseases. Such tests have been available previously. The news here is that this company’s innovation makes testing far cheaper and easier. The Journal found the test so remarkable it gave it a Bronze award as part of its annual awards for technology innovation. We did not find the story about the test quite as remarkable, mainly because it did not thoroughly explain the evidence behind this advance and the risks involved with genetic screening.


Why This Matters

 The story itself makes it clear why a better genetic test — and careful coverage of the test — matter. "Proponents of universal prepregnancy genetic screening make a bold claim: If these tests were widely available, they could significantly reduce, and possibly eliminate, hereditary diseases." To test that bold claim, stories like these need to provide more of the evidence to readers in easy to understand terms. If the test can help individuals considering having children who may be at high risk for a genetic defect, it does not mean that it will help an individual who is worried about genetic defects, but not at high risk. The reason is that as the likelihood that the person has a genetic defect falls, the ability of the test to differentiate between a false positive and a true positive gets harder. False alarms for prospective parents could be devastating. There isn’t even the briefest mention of this incredibly important issue.


Does the story adequately discuss the costs of the intervention?


 This story is particularly complete, if brief, on the subject of costs. The story explains that previously, a single genetic test might cost anywhere from $500 to $1,000. The company’s new test, which covers approximately 100 different genetic conditions, costs about $350. The story also points out that most insurance plans will cover the fee. That has not been the case with previous tests.  The does not address the down stream costs. For example, if one of the tests is positive, does it need confirmation or is the specificity of the test adequate? If a patient is really at high risk based upon her/his family history, is a negative test sufficiently sensitive to be sure that person does not have the genetic defect?

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

Not Satisfactory

The story addresses two major advantages to Counsyl’s test – the fact that it much cheaper and much easier. On the latter point, previous genetic tests typically covered a single disease and required a blood sample. Counsyl’s new method covers about 100 disorders, as mentioned above, with a saliva test. But the focus should have been expanded beyond mere convenience. Does this test improve the quality of life for "families at risk for conceiving children with familial diseases"? No evidence is presented suggesting that it does. Does the test "significantly reduce, and possibly eliminate, hereditary diseases"? No evidence is presented suggesting that it does.

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

Not Satisfactory

The story does not discuss potential harms. In a story like this, which is about a test that gives parents options, harm is a tricky concept and is very much in the eye of the beholder. Those who are likely to see a harm are those concerned about the slippery slope toward "designer babies." Is there a moral and/or ethical question raised when parents can more easily conduct a test that might lead them to not have children? There is also the potential harm of falsely reassuring or alarming data.

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

Not Satisfactory

 The story does not evaluate the reliability or accuracy of the new test. How sensitive and specific are the results? How often is a test falsely negative or positive? For potentially serious genetic defects such as Tay-Sachs disease, you need a really sensitive test. You don’t want to miss anyone with the gene.

Does the story commit disease-mongering?


The story does avoid disease-mongering by presenting the new test as a useful and practical advancement without making any heart-wrenching claims about any of the disorders a child may inherit. In our view, this is a shortcoming. How many children are born each year with genetic diseases? That would be telling information, but the story does not provide it. We do get a different statistic – that approximately 20 percent to 30 percent of infant deaths are due to genetic diseases. This is interesting, and worth including, but it gets at only a part of the picture.

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

Not Satisfactory

 One outside voice was included in the story – that of a judge in the Innovation Awards competition. The judge, a venture capital executive, is not a medical expert, and it’s not made clear that he is not an investor in the company or in that technological field. Presumably the awards are not judged by people with a financial interest in the outcome, though the story does not say so. We hunted throughout the Journal’s quite interesting package but could not find any "how we did it" story or anything about the judges. We think this weakened the story and the overall package. It would have been nice to hear from an obstetrician who would consider using such a test.

Does the story compare the new approach with existing alternatives?


 The story does a good job of comparing the status quo to benefits offered by Counsyl’s new test. Another alternative to this test is to wait until pregnancy to screen. The Counsyl test would be best where one parent having a single copy of the defective gene would be enough to cause problems.

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


 The story says that after a period during which the test was available only at certain clinics, it now is available nationally. That sounds like good news, but I was left wondering if "nationally" meant the same as "everywhere." Are we just as likely to see this test in Casper, Wyoming, as we are in Manhattan?

Does the story establish the true novelty of the approach?


 The story clearly states that until now, testing for diseases that parents might pass onto their children has been available, but due to the expense and hassle, it has been little used. For most parents interested in knowing as much as they can about the potential health of future children, this clearly represents a step forward.

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


The story is part of a larger awards package that involved asking a panel of judges to review innovations and decide which ones deserved special merit. It was not based on a release.

Total Score: 6 of 10 Satisfactory


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