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(Circulation. 2003;107:2171.)
© 2003 American Heart Association, Inc.

Editorial

To Screen or Not Is Not the Question— It Is When and How to Screen

A.J. Marian, MD; R. Roberts, MD

From the Section of Cardiology, Baylor College of Medicine, Department of Medicine, Section of Cardiology, Houston, Tex.

Correspondence to A.J. Marian, MD, Baylor College of Medicine, One Baylor Plaza, 519D, Houston, TX 77030. E-mail amarian@bcm.tmc.edu

Key Words: Editorials • genetics • tests • cardiomyopathy, hypertrophic • death, sudden

An extract of the first 250 words of the full text is provided, because this article has no abstract.

The year 2003 marks the 50th anniversary of the publication of "Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid" by James Watson and Francis Crick.¹ In just 50 years, the human genome has been sequenced, along with those of more than 1000 viruses and 100 microbes (see the National Center of Biotechnology Information’s list of completed and ongoing projects²). The stage is set for the identification of the approximately 30 000 genes thought to be present in the human genome. There are as yet only 1300 genes listed in the databases for human diseases (see the Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff³). One would expect that within the next 5 to 10 years, all genes in the human genome will be identified. Additional decades will be needed to determine their roles in human diseases and develop techniques to manipulate them to the benefit of human beings. Nonetheless, the genetic revolution is well underway, and we in the cardiovascular world must prepare for its application and consequences. The 21st century is likely to be earmarked for its achievements in genetic and restorative biology.

See p 2227

Revolutions in science are often nonuniform but kindled by sparks of success. The success in genetics of cardiomyopathies could be such a spark for the cardiovascular world. The first gene for hypertrophic cardiomyopathy (HCM) was identified in 1991,⁴ and in one decade, more than 10 genes and over 200 mutations have been identified.^5,6 The . . . [Full Text of this Article]

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Hypertrophic Cardiomyopathy: Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy

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Circulation 2003 107: 2227-2232. [Abstract] [Full Text]

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