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Molecular genetic testing for inherited disorders.

Roberta A Pagon¹

¹GeneTests, University of Washington School of Medicine, Seattle, WA, USA. bpagon@u.washington.edu

Expert Review of Molecular Diagnostics

|March 6, 2004

Summary

Molecular genetic testing for heritable disorders is rapidly advancing. This review explores the scientific, social, and clinical factors driving its increasing use and applications.

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Area of Science:

Genetics
Molecular Biology
Bioethics

Background:

The Human Genome Project has accelerated gene discovery.
Rapid translation of scientific findings into clinical genetic tests is occurring.
Genetic testing has unique nonmedical applications.

Purpose of the Study:

To review molecular genetic testing for heritable disorders.
To examine factors driving interest in genetic testing.
To discuss the transition of genetic discoveries into clinical practice.

Main Methods:

Literature review of molecular genetic testing advancements.
Analysis of scientific and social factors influencing genetic testing.
Examination of clinical and nonmedical applications.

Main Results:

Molecular genetic testing is of significant interest.
Accelerated gene discovery fuels test development.
Increasing individual autonomy impacts genetic testing use.

Conclusions:

Molecular genetic testing is a rapidly evolving field.
Scientific, social, and technological factors converge.
The clinical and nonmedical landscape of genetic testing is expanding.

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