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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Approaching biomarker discovery through genomics.

Stephen S Rich¹

¹Department of Public Health Sciences, Center for Public Health Genomics, University of Virginia, 6111 West Complex, P.O. Box 800717, Charlottesville, VA, 22908-0717, USA. ssr4n@virginia.edu

Journal of Cardiovascular Translational Research

|June 19, 2010

Summary

This summary is machine-generated.

Genomic medicine aims to personalize treatments by identifying individual disease risk factors. Understanding complex diseases requires exploring genetic and environmental interactions to develop effective biomarkers.

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Last Updated: Jun 12, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Genomic Medicine
Personalized Healthcare
Disease Pathogenesis

Background:

Genomic medicine promises individualized risk assessment and treatment for complex diseases.
Current genomic science faces limitations in fully addressing disease etiology.
Complex diseases like heart disease, diabetes, asthma, and stroke involve intricate genetic and environmental factors.

Purpose of the Study:

To explore the genetic and epidemiologic causes of complex human diseases.
To understand the interactions between genetic risk factors and environmental influences.
To identify reliable biomarkers for disease prediction and pathogenesis insights.

Main Methods:

Analysis of genetic profiles and their relation to disease predisposition.
Investigation of gene-gene and gene-environment interactions in disease development.
Validation of biomarkers as surrogates for combined genetic and environmental effects.

Main Results:

Genetic risk factors for complex diseases may not be unique and can share similar genomic profiles.
Genetic factors interact with each other and with environmental factors in disease pathogenesis.
Biomarkers can be derived from genetic risk factors in the absence of a complete genomic fingerprint.

Conclusions:

Personalized medicine hinges on understanding individual genetic makeup and environmental exposures.
Clinically validated biomarkers offer a pathway to predict disease risk and understand pathogenesis.
Further research into genetic and environmental interactions is crucial for advancing genomic medicine.