Molecular diagnostics: past, present, and future

Area of Science:

• Genetics and genomics
• Clinical diagnostics
• Biotechnology

Background:

• Molecular diagnostics (MDx) has evolved from fundamental research on gene function, structure, and regulation.
• Clinical molecular diagnostics laboratories now assay numerous human mutations associated with genetic diseases.
• The polymerase chain reaction (PCR) has been instrumental in translating research findings into clinical applications.

Purpose of the Study:

• To review methods for identifying known mutations in a clinical setting.
• To identify and suggest a molecular diagnostic technology well-suited for clinical use.
• To outline requirements for advancing clinical molecular diagnostics.

Main Methods:

• Discussion of various mutation scanning and identification methods.
• Evaluation of method applicability in a clinical molecular diagnostics environment.
• Identification of a specific technology suitable for clinical adoption.

Main Results:

• Not all research-based mutation detection methods are directly applicable in clinical settings.
• Certain molecular diagnostic technologies are more amenable to routine clinical use than others.
• The transition to widespread clinical molecular diagnostics requires specific technological and infrastructural support.

Conclusions:

• Clinical molecular diagnostics is an established field with significant potential.
• The future of molecular diagnosis depends on the adoption of appropriate technologies and robust laboratory practices.
• Key requirements for advancing the field include well-trained personnel, regulatory oversight, and automation.