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Yale J Biol Med. 2010 March; 83(1): 49.
Published online 2010 March.
PMCID: PMC2844696

Ethics and Newborn Genetic Screening: New Technologies, New Challenges

Reviewed by Anthony Marfeo, MS4

Mary Ann Baily, Thomas H. Murray, editors.
Ethics and Newborn Genetic Screening: New Technologies, New Challenges.
2009. The Johns Hopkins University Press: Baltimore. ISBN: (Hardcover) 978-0801891519. US $50.00 376 p

Ethics and Newborn Genetic Screening addresses the ethical and policy issues surrounding technological advances that have allowed routine testing for dozens of rare diseases. This book describes newborn screening programs with an historical arc, depicting what is at its root a classic case of technology outpacing self-reflection. The arc covers everything from the original controversial screening program for phenylketonuria to the modern ease of checking as many boxes as one wishes without adding any considerable cost or effort. It is sometimes taken for granted that more testing is better, but this book makes a case for rational testing, outlining reasons and practical methods to make it happen at a national level.

The book is a compilation of essays by a wide variety of experts. Each is concerned with a very different aspect of newborn screening. The variety of perspectives weaves a story that is complex and sometimes contradictory, but always thought provoking. Some particularly fascinating chapters are dense overviews of entire schools of thought, almost self-contained primers on public health.

A chapter by editor Mary Ann Baily interweaves the issue of fair distribution of testing burdens and benefits with that of healthcare distribution in general. This exposes one of many odd paradoxes of our healthcare system: our willingness to spend state and federal money to test for conditions that our fragmented system will later allow to go untreated. Our affection for newborns apparently does not extend to the resulting adults.

Scott Grosse writes a terrific overview of cost-effectiveness analysis, using examples of newborn genetic screening as a vehicle to explain this frequently used tool. His views are balanced by a firsthand perspective from an advocate for genetic screening, who is both a concerned mother and geneticist. This could be the most valuable chapter for those of us with a scientific background, as her reasoning is rational yet sometimes contrary to the traditional criteria for good screening tests.

The opening and closing chapters by the editors provide the rationale for the compilation, framing the general issue to be discussed. The theoretical framework complements many of the chapters with narrower, more concrete subject matter. Overall, the book is a well-assembled treatment of newborn screening, sure to spark discussion in medical and bioethical communities.

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