Published online September 21, 2009
PEDIATRICS Vol. 124 No. 4 October 2009, pp. e807-e808 (doi:10.1542/peds.2009-1498)
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COMMENTARY

When Should Children Be Tested for Genetic Diseases?

Amanda A. Trott, MD and Reuben Matalon, MD, PhD

Division of Genetics, Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas

The first 20% of the full text of this article appears below.

Current recommendations on predictive genetic testing for conditions in children that manifest later in life without the availability of curative treatment seem to favor the autonomy of the child (ie, waiting until the child is old enough to make the decision for himself or herself).1–3 In their article, Tarini et al4 analyzed the responses from 1342 parents who participated in the survey (response rate: 71%). They used amyotrophic lateral sclerosis as an example of an incurable disease. One third of the parents definitely wanted to know the diagnosis, another 30% were leaning toward testing, and only one third were not interested in early diagnosis. Many academic institutions do not perform testing for such diseases on children because treatment is not indicated until the disease manifests. In our experience, we have found that if parents are interested in finding the diagnosis for their children, they will bypass the academic testing facility and go on to private diagnostic laboratories. Such laboratories are on the increase, but . . . [Full Text of this Article]

Address correspondence to Reuben Matalon, MD, PhD, University of Texas Medical Branch, Children's Hospital, Department of Pediatrics, 301 University Blvd, Galveston, TX 77555. E-mail: rmatalon@utmb.edu or rmatalon@houston.rr.com


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Should children be tested to detemine carrier status?
Jane Karwoski
Pediatrics Online, 7 Nov 2009 [Full text]