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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

Predictive genetic testing for complex diseases: a public health perspective.

C Marzuillo¹, C De Vito, E D'Andrea

¹Department of Public Health and Infectious Diseases, Sapienza University of Rome, Piazzale Aldo Moro 5, Rome, 00185, Italy. paolo.villari@uniroma1.it.

QJM : Monthly Journal of the Association of Physicians

|September 20, 2013

Summary

Integrating predictive genetic testing into healthcare requires robust evidence and policy. While challenges exist in evaluating genetic tests, their potential to reduce disease and improve public health is significant.

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Area of Science:

Genomics and Public Health
Health Technology Assessment

Background:

Systematic, evidence-based assessments are crucial for integrating genomics into healthcare.
Scientific evidence on the effectiveness of predictive genetic testing for complex diseases is challenging to acquire.
Current utilization of genetic tests may not be optimal, necessitating improved evaluation frameworks.

Purpose of the Study:

To review frameworks for evaluating genetic testing.
To highlight similarities and differences between traditional screening and predictive genetic testing.
To assess the current state and future potential of genomic applications in public health.

Main Methods:

Literature review of technology assessment and economic evaluation frameworks for genetic testing.
Comparative analysis of traditional screening and predictive genetic testing.
Synthesis of evidence on the effectiveness of genomic applications.

Main Results:

Frameworks for genetic test evaluation have been developed, indicating current suboptimal use.
Evidence-based recommendations exist for some genomic applications with proven benefits.
Numerous genomic applications are anticipated to emerge in the next decade.

Conclusions:

The integration of genetic tests into healthcare is timely but requires specific health policies and evaluations.
Healthcare systems need organizational changes, workforce capacity building, and public education for effective genomic implementation.
Genomic applications hold significant potential to reduce morbidity and mortality, necessitating strategic adoption.