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Edwin M. Stone, MD, PhD

Arch Ophthalmol. 2007;125(2):205-212.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

The data, devices, and molecular techniques that have become part of the practice of medicine as a result of the Human Genome Project are for most clinicians both inspiring and intimidating. While the potential for tests that can help make very accurate diagnoses of rare genetic diseases and that can identify genetic predispositions to more common ones is exciting, the translation of this concept to practice has been slower and more complicated than most people would have imagined.

The reasons for the slow translation of genomic discoveries from the laboratory to the clinic range from the vagaries of intellectual property law to the different strategies that various countries have chosen to pay for the medical care of their citizens. However, our understanding of the genes involved in inherited eye disease is now sufficiently advanced and molecular technology is sufficiently powerful that we can reasonably expect . . . [Full Text of this Article]

INDICATIONS FOR GENETIC TESTING

WHAT IS A GENETIC TEST?

CLINICALLY USEFUL TESTS

NORMAL GENETIC VARIATION

THE MUTATION DETECTION PROBABILITY DISTRIBUTION

THE VALUE OF CLINICAL HYPOTHESES

THE VALUE OF A MULTIPLATFORM APPROACH

MEANINGFUL WRITTEN REPORTS

CONCLUSION

AUTHOR INFORMATION

Author Affiliation: The Carver Family Center for Macular Degeneration, The Howard Hughes Medical Institute, The University of Iowa Carver College of Medicine, Iowa City.

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