PRESS RELEASE OF THE WEEKBMJ 1995; 310 doi: http://dx.doi.org/10.1136/bmj.310.6971.67a (Published 07 January 1995) Cite this as: BMJ 1995;310:67
- Patricia MacNair
“Major genetic breakthrough for Noonan syndrome”
Apress release from the Birth Defects Foundation on 30 November 1994 anounced a “major genetic break-through for Noonan syndrome.” The announcement, which covered the successful mapping of the gene for Noonan syndrome and other related syndromes, continued, “An 18 year personal odyssey by a British housewife has lead to a major breakthrough in medical science which offers hope for the future for thousands of parents around the world.” The release resulted in widespread coverage in local and national newspapers and on television and radio.
The press release itself contained no direct explanation as to why mapping Noonan syndrome is a medical breakthrough or how it could offer hope to parents. Although this information was included in the background notes that accompanied the press release, these were so complicated and clumsily written that many news editors would have missed the explanation or simply given up with the story long before they reached it.
More worrying was the loss of perspective as to the importance of the discovery of the gene. Cliches used in the release, such as “major breakthrough” and “hope for the future,” are becoming a familiar sight as more and more gene discoveries are announced. But are these really justified when a gene is mapped? Although (as the release tried to imply) gene mapping may lead to an effective diagnostic test, there is no guarantee that it will. Indeed, as the recent news about the breast cancer gene BRCA1 has shown, once the gene defect is fully elucidated it may prove so complex that a test that would reliably detect all possible mutations is very difficult to develop. Dr Michael Patton of St George's Hospital, the geneticist who led the research team on Noonan's syndrome, admits that at present it is only the location of the gene and not the gene itself which has been identified, and that for most people a reliable test is probably at least two years away.
The press reiease also contained a patronising referral to the “housewife” who had founded the Noonan Syndrome Society. In the resume accompanying the release Mrs Sheila Brown lists among her activities being executive director of the Birth Defects Foundation; a families special needs adviser; author of specialist articles; and speaker on disability rights. As such, she is no less or more a housewife than the editor of the BMJ is a househusband.
Finally, the introduction to the back-ground notes made an attempt to explain what “mapping a gene” means. It read, “Mapping a gene is a scientific term for the breakthrough which narrows the focus of research to the point of isolating a gene whose defective behaviour creates a disease.” It is no wonder that news journalists who are less familiar with science occasionally get carried away by a “new breakthrough in medicine” and get medical stories so wrong?—PATRICIA MACNAIR, BBC Science Unit, London W1A 1AA