Research reported in the New England Journal of Medicine this week has shown that prenatal diagnosis with gene chips is superior to conventional chromosome analysis in detecting many kinds of abnormalities in a developing fetus. This is not a big surprise–one would expect that taking a closer look at the genes would reveal more problems. But it was a tricky story to cover; the details are important.
Marilyn Marchione of The Associated Press backs in to the story, reporting in her second graf that "a surprisingly high number – 6 percent – of certain fetuses declared normal by conventional testing (known as karyotyping) were found to have genetic abnormalities by gene scans," she wrote. That was the news. Her first graf began with a likely consequence of the finding (that it "sets the stage for wider use of gene testing") and a more generalized summary of the findings (gene analysis "reveals far more" than conventional testing).
I don't know why she put the specifics in the second graf, rather than the first. It's part of what gives the story a tentative feel, as if she were too concerned about veering off course–but that doesn't happen. She makes a small misstep by failing to report that the genetic analysis missed some abnormalities that were found in conventional analysis. But she does report that testing with gene chips is sometimes not much better than conventional testing and that genetic analysis costs roughly twice as much. And she includes comments from a woman who opted for genetic testing–a nice touch in a spot news story.
At Time, Bonnie Rochman begins with an entirely inappropriate lede: "Would you want to know if your unborm baby is at risk of autism?"
This study was not about autism. Autism is one of countless abnormalities that the testing might one day be able to uncover, but that won't happen until researchers understand much more about the genetic basis of autism. The word "autism" appears, in passing, only once in the study, but Rochman, who apparently begs to differ, makes it the most important word in her story.
Michelle Fay Cortez at Bloomberg BusinessWeek turns in a reasonable story, and, unlike others, mentions some of the companies involved in the study.
In a guest post at Scientific American, Ricki Lewis, who has a Ph.D. in genetics, gives us a thorough explainer of the differences between genetic analysis and conventional chromosome analysis. She relies in part on experiences she's had with expectant parents and leaves readers with a solid understanding of the findings and the issues they raise. And she mentions what others didn't–that gene chips can miss some abnormalities.
Only one of the stories I saw included what I think is an important bit of information. The study that most stories focused on was one of three companion pieces in the New England Journal. Kristina Fiore of medpagetoday.com writes that the authors of the three studies reported relationships, among them, with the biotech and pharmaceutical companies Agilent, Affymetrix, PerkinElmer, Genzyme, Shire, CombiMatrix, Roche NimbleGen, Celula, Natera, RMA Genetics, LabCorp, Bio Dx, Bayer, Novartis, and Signature Genomics Laboratories.
The relationships included receiving speaking and consulting fees and holding stock or stock options.
Did these relationships taint the research? How could one ever sort that out? But Fiore was right ro report it.
-Paul Raeburn
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