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05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Is gene discovery research or diagnosis?
Mark E Samuels1, Andrew Orr, Duane L Guernsey
1Department of Medicine, University of Montreal and Centre de Recherche du CHUM, Montreal, Quebec, Canada. mark.e.samuels@umontreal.ca
Summary
Advances in technology and decreasing costs are blurring the lines between human genetic research and clinical molecular diagnostics. Soon, clinical labs may perform tasks currently considered research, like whole genome sequencing.
Area of Science:
- Genetics
- Molecular Biology
- Clinical Diagnostics
Background:
- Distinctions between human genetic research and clinical molecular diagnosis are often practical, influenced by technology costs and interpretation expertise.
- Patient care is paramount in medicine, with clinical diagnosis focusing on defining disease entities, even without immediate treatment.
- Identifying causal variants for heritable single-gene disorders is the objective of molecular diagnostics.
Purpose of the Study:
- To explore the evolving landscape of human genetic research and clinical molecular diagnostics.
- To examine the impact of technological advancements and cost reductions on diagnostic practices.
- To forecast the integration of research activities into clinical settings.
Main Methods:
- Analysis of current technological capabilities and cost trends in genetic analysis.
- Review of the infrastructure and personnel standards in clinical laboratories versus research settings.
- Discussion of the practical and theoretical criteria differentiating research from clinical diagnosis.
Main Results:
- Technological improvements and cost declines are making advanced genetic analyses more accessible.
- The traditional separation between research-based gene discovery and clinical diagnostics is diminishing.
- Whole genome resequencing is becoming feasible for individual patient diagnosis in clinical settings.
Conclusions:
- The integration of research methodologies into clinical molecular diagnostics is imminent.
- Future clinical laboratories will likely incorporate advanced genetic discovery techniques.
- This shift promises to enhance diagnostic capabilities for genetic disorders.
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