By: Carlie J. Driscoll, PhD, and Bradley McPherson, PhD, FAAA, Plural Publishing, Inc, San Diego
The authors of Newborn Screening Systems, Carlie J. Driscoll, PhD, and Bradley McPherson, PhD, FAAA, along with numerous contributing authors, undertake the formidable task of explaining newborn screening systems and their place in the health care system. The authors are from Australia; however, they present international information as appropriate throughout the text. Easy to read and understand, the book is partitioned into 3 parts: general considerations, present and future screening systems, and associated information. Charts and text boxes throughout the chapters illuminate and simplify necessary information.
The first part of this book gives an overview of the history and basic principles underlying the development of newborn screening programs. It provides a brief but thorough introduction into the concepts of reliability versus validity and sensitivity versus specificity and how each of these terms is utilized during the development and initiation of screening programs. Criteria for selecting the best screening test and their ultimate value in the health care system are also mentioned. An entire chapter is devoted to a riveting discussion on the ethics surrounding the implementation and utilization of these programs. Pathologic conditions that are revealed through newborn screening techniques, as well as further diagnostic tests that may be used in conjunction for diagnosis, are briefly summarized.
The second part of the book is a thorough discussion on the most common newborn screening systems in place: the pediatric examination, hearing screens, and the newborn dried-bloodspot screen. The newborn examination by the pediatric office provider is well elucidated and logically discussed, with potential abnormalities minimally mentioned. A comparison of the most commonly utilized hearing screen processes is provided. Adverse testing conditions and complications with screening in developing countries or community programs are acknowledged. Lastly, the history and policy development surrounding newborn dried-bloodspot screening systems are covered in great detail. Possible future avenues through the use of polymerase chain reaction amplification and microarray chips or genome sequencing are explored.
The final section of the text deals with associated topics necessary for maximal effectiveness of any screening program. These include the role of genetic counseling, parental communication, and technological assistance for data storage and analysis.
Discussion on the effective utilization of genetic counseling and the invaluable information that can be provided to parents for future pregnancies is concise and easily understood. Methods to ensure compassionate and fruitful communication with even the most difficult of parents are presented and exemplified. The last chapter of the book gives a short synopsis of information systems and the best use of database systems as well as a description of the various types that may be useful and how to choose one to suit your own specific needs.
Most chapters provide an extensive reference listing along with valuable and insightful knowledge. A rather comprehensive index makes it easy to locate desired data, and the glossary helps with clarification of terms. While this book is not neonatal specific, it certainly has value as a source of general information concerning newborn-screening procedures and will be most welcome in any pediatric provider's reference library.