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After the genome--the phenome?

¹Department of Biology, McGill University, McGill University Health Center, A-721, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3. charles.scriver@mcgill.ca

Journal of Inherited Metabolic Disease

|June 11, 2004

Summary

The Human Genome Project revealed complex genotype-phenotype links. A Human Phenome Project is needed to understand individual biological complexity and improve genetic disease treatments.

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Area of Science:

Genomics
Systems Biology
Biochemistry

Background:

The Human Genome Project highlighted the intricate relationship between genotype and phenotype.
Phenotypic individuality is influenced by various 'omes' (transcriptome, metabolome, proteome).

Purpose of the Study:

To advocate for a Human Phenome Project.
To emphasize the need for integrative biology over reductive approaches.
To highlight the role of clinician-scientists in understanding individuality and traits.

Main Methods:

Elucidation of the phenome's layers, nodes, links, and networks.
Integrative biological approaches.
Analysis of genetic contributions to Mendelian and complex traits.

Main Results:

The phenome requires comprehensive study to understand biological individuality.
Integrative biology is the future direction for biological sciences.
Understanding the phenome will reveal individual contributions to various traits.

Conclusions:

A Human Phenome Project is essential for a deeper understanding of human biology.
Clinician-scientists are crucial for phenome research and its medical applications.
Improved treatments for genetic diseases will emerge as a byproduct of phenome research.

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