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Genetic screening, testing and treatment: how far can we go?
1Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Journal of Inherited Metabolic Disease
|January 1, 1996
Summary
Genetic testing and screening offer predictive insights for managing genetic diseases, including complex multifactorial conditions. These advancements promise to enhance personal and collective health through early interventions and improved treatments for inherited disorders.
Area of Science:
- Genetics and Healthcare
- Medical Diagnostics
- Disease Management
Background:
- Genetic diseases, both Mendelian and complex, require multifaceted management strategies including care, control, and cure.
- Disease diagnosis involves recognizing states of impairment, disability, and handicap during symptomatic phases.
- Genetics in healthcare can prevent disease manifestations through presymptomatic interventions.
Purpose of the Study:
- To explore the potential of genetic testing and screening in predicting and managing genetic diseases.
- To highlight the role of genetic interventions in the presymptomatic stages of disease.
- To discuss the integration of genetic advancements into routine healthcare for improved health outcomes.
Main Methods:
- Review of current and potential applications of genetic testing and screening.
- Analysis of the role of genotypic variations in disease etiology.
- Discussion on the management of Mendelian and complex multifactorial diseases.
Main Results:
- Genetic testing and screening can play a predictive role, especially for common multifactorial diseases.
- Interventions at the presymptomatic stage can prevent disease manifestations.
- Advancements in genetics offer opportunities for better treatments for inherited infirmities.
Conclusions:
- Genetic testing and screening, when used wisely, will become integral to healthcare.
- Early genetic insights can lead to proactive health management and improved patient outcomes.
- The slow but steady progress in genetic medicine holds significant potential for personal and public health.
Keywords:
Genetics and Reproduction