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13 St. Thomas L. Rev. 945 (2000-2001)
Immediate Clinical Applications of the New Genetic Technology

handle is hein.journals/stlr13 and id is 961 raw text is: IMIEDIATE CLINICAL APPLICATIONS OF THE NEW GENETIC TECHNOLOGY R. RODNEY HOWELL, M.D.* In current discussions, it is commonly assumed that genetic testing is very new, and indeed some who review proposed testing appear to be unaware of the genetic testing that has been a central part of the practice of pediatrics and other primary care medical specialties for nearly four decades. I would like to review with you the experience over this time period with some of the well-established genetic testing programs, and discuss how they differ with some of the currently proposed programs which indeed bring new issues to the table. Phenylketonuria (PKU)' is a Mendelian recessive inborn error of metabolism described well over 50 years ago. The basic problem in this situation is an abnormality of the enzyme phenylalanine hydoxylase that results in a significant elevation of the amino acid, phenylalanine in the serum. The hallmark of this condition, if untreated, is profound mental retardation (average I.Q. of untreated persons ranges around 25),2 and other less important physical findings.3 Since phenylalanine is an essential amino acid, it was possible to devise a diet4 that lowered phenylalanine in the serum and dramatically improved the outcome of these patients. Phenylketonuria is a rare disease; it is categorized as an 'orphan disease. Approximately 1 of every 15,000 infants in the United States is born with PKU.' In early studies with the phenylalanine restricted diet it was clear that the outcome of children with PKU could be dramatically * Professor and Chairman, Department of Pediatrics, University of Miami School of Medicine. Dr. Howell has served on many national committees including acting as the Chairerson for the Consensus Development Panel for the National Institutes of Health. 1. See generally, Phenylketonuria (PKU): Screening and Management, 17 FIN,,AL NIH CONSENSUS STATEMENT 3, 4 (OCT. 16-18, 2000), at http-//odp.od.nih.gov/consensuslconsl113/113 statement.htm. 2. The statistical average of the population is set at approximately 100. See Stud) Shons Long-Term Beneficial Effects of the PKU Diet, Even for Late-Diagnosed Persons, NATIONAL PKU NEWS (Virginia Schuett, ed. Winter 2000), at http://205.178.182.34adults/study.htm. 3. See supra note 1, at 2. 4. See Tips for Diet Management from PKU Families, NATIONAL PKU NEvs, at http://205.178.182.34/diet/tipsl.htm. 5. See supra note 1, at 2.

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