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Vol. 15, Winter, 1998

Issues in Newborn Screening

From the Editor and Authors:

There is much public attention surrounding the use of DNA for genetic testing. What the lay public fails to realize is that genetic testing in the form of newborn screening has been in use for two to three decades. While newborn screening is not considered as fancy as the polymerase chain reaction amplification or allelic-specific oligonucleotide hybridization, the testing of protein products of genes or metabolites of metabolic pathways is an indirect genetic test.

Newborn screening has clearly proved quite effective for selected disorders. For example, cretinism from untreated hypothyroidism is now a medical rarity, and patients with late or untreated phenylketonuria no longer populate residential treatment programs. While early identification of patients with hypothyroidism or phenylketonuria has not eliminated all of the problems associated with these disorders, there is no argument that newborn screening is particularly effective for these two disorders and has been implemented in all fifty states. Thus, hypothyroidism and phenylketonuria are good examples of the success of newborn screening as a public health measure.

All is not stagnant in the newborn screening universe, however, and controversies abound. This issue of the Genetic Drift presents a number of the problems facing newborn screening - from alternative uses of newborn screening blood spots, to dilemmas arising from carrier detection for some of the disorders. While we have certainly not covered all of the issues facing newborn screening, we hope that the information this volume will be both useful and thought provoking. Please visit the the 1996 Newborn Screening Practitioners Manual.

Contributions from David Mills, Ph.D. (NM), Holly Nyerges, MSN, CPNP (NM), Benjamin Wilfond, MD (AZ), Peter A. Lane, MD (CO), and Carol Greene, MD (CO).

Randall A. Heidenreich, MD (AZ)
Guest Editor
Carol Clericuzio, M.D. (NM),
Editor

The Genetic Drift Newsletter is not copyrighted. Readers are free to duplicate all or parts of its contents. The Genetic Drift Newsletter is published semiannually by the Mountain States Genetics Network for associates & those interested in Human Genetics. In accordance with accepted publication standards, we request acknowledgement in print of any article reproduced in another publication. The views expressed in the newsletter do not necessarily reflect local, state, or federal policy. For additional information, contact Carol Clericuzio, M.D., Editor, Department of Pediatrics, The University of New Mexico, Albuquerque, NM, 87131

Table of Contents
Issues in Newborn Screening:

Introduction
Alternative Uses of Guthrie Spots
Impact of Early Hospital Discharge
Screening for Cystic Fibrosis
Hemoglobinopathy Carriers
Pitfalls in Newborn Screening

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