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LETTER TO THE EDITOR |
To the Editor.—
Alexander and van Dyck1 argue that "the dogma that it is appropriate to screen only for conditions for which effective treatment already exists needs to be changed." This follows from their view that the number of conditions that are screened for needs to be expanded greatly. They argue that restricting screening to conditions for which an effective treatment already exists served a useful purpose in the early years of newborn screening but is now outmoded. They provide 4 reasons in support of screening for conditions for which an effective treatment does not exist: (1) time between onset of symptoms and diagnosis could possibly be reduced; (2) parents could be alerted to genetic disorders that can be considered for future prenatal diagnosis and family planning; (3) "adjunctive therapy" may be useful even if there is no curative therapy; and (4) screened infants could participate in research on innovative therapies intended to prevent or modify manifestations of a genetic disease. The authors conclude that "the old dogma cannot be allowed to stand in the way of developing effective treatments for these rare genetic disorders."
It is generally acknowledged that before establishing a screening program there should be an effective treatment for the condition so that the expected outcome will be better after screening than if treatment were started after clinical presentation. The authors suggest that parents who have not sought medical attention regarding their infant should be invited so that their child could be tested, only to find that their child has or may have a serious disorder for which there is no curative treatment. This is surely something to avoid. People respond to the invitation to attend medical screening examinations in the belief that there will be a benefit if the disorder being screened for were identified. Otherwise, they would ask why medical authorities were offering screening in the first place. It is also important to acknowledge that an earlier diagnosis can do harm by causing worry and expense. It can lead to unnecessary medical intervention with the attendant risk of adverse effects, as occurred with neonatal cystic fibrosis screening in which screened children had more serious lung infections than the unscreened children,2 probably from their more intensive hospitalization. To undermine the expectation of benefit and the trust in the provision of medical screening services would be a mistake.
Of the 4 reasons for screening set out by Alexander and van Dyck as a basis for offering neonatal screening, the only one for possible consideration may be the fourth, that early detection might provide the opportunity for research into preventive therapies. The aim of screening would then be to provide a group of potential research subjects. This is not what most people expect from screening. They expect a personal benefit, not to be a potential candidate for a research study. If screening were to be performed for the latter reason, it should be made clear at the time that screening is offered, and screening should then be restricted to areas in which there is a reasonable expectation that such research will be conducted instead of recommending screening generally.
The other 3 reasons are insufficient. Neonatal screening is, in general, a poor method of alerting couples to a disorder before the birth of an affected child, because it cannot detect the first affected pregnancy in any family. Prenatal screening would often be more effective, identifying most affected pregnancies, including the first one in any family. The argument that neonatal screening is useful in influencing "prenatal diagnosis and family planning" is more an argument in favor of prenatal screening than a reason for neonatal screening. Another reason given is delay in making the diagnosis. This is not a good reason to introduce screening; it would be better to educate physicians to avoid the delay. The reason that proposing "adjunctive therapies" when "curative therapies are not available" would need to be defended for each disorder for which screening is being conducted. For example, pancreatic enzyme therapy in cystic fibrosis may increase average height by about a quarter of an inch, but this is not sufficient to justify a population neonatal screening program.
What is described as the old dogma remains a sound principle. In medical screening it is important to be sure that there is a medically significant health benefit that can be offered and given to those being screened. There would need to be special and compelling reasons to screen for a disorder for which no effective remedy was available.
FOOTNOTES
Statements appearing here are those of the writers and do not represent the offcial position of the American Academy of Pediatrics or its Committees. Comments on any topic, including the contents of PEDIATRICS, are invited from all members of the profession; those accepted for publication will not be subject to major editorial revision but generally must be no more than 400 words in length. The editors reserve the right to publish replies and may solicit responses from authors and others.
Please see www.pediatrics.org for instructions on submitting letters.
REFERENCES
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