Workload measurement for molecular genetics laboratory: A survey study.

Area of Science:

• Clinical Genetics
• Molecular Diagnostics
• Health Services Research

Background:

• The increasing availability of genetic testing, particularly next-generation sequencing (NGS), necessitates optimizing clinical laboratory workflows.
• Efficient laboratory processes are essential for managing healthcare costs and informing health policies.

Purpose of the Study:

• To estimate the time required for wet laboratory procedures in Italian genetic diagnostic laboratories.
• To identify time-consuming steps in molecular diagnostics, including NGS, to guide efficiency improvements.

Main Methods:

• A survey was conducted by the Italian Society of Human Genetics (SIGU) involving 42 laboratories offering genetic diagnosis.
• The survey collected data on hands-on times for various molecular diagnostic procedures, including NGS and its interpretation phase.

Main Results:

• Manual laboratory procedures and those susceptible to human bias were identified as the most time-consuming steps for most molecular techniques.
• For NGS, the interpretation phase was found to require the longest duration.
• This is the first survey to detail hands-on times for diverse molecular diagnostics, including NGS.

Conclusions:

• The study highlights the need to optimize analytical processes in molecular genetics laboratories.
• Implementing laboratory information management systems (LIMS) can minimize manual pre-analytical steps, improving accuracy.
• Addressing manual procedures and interpretation times is critical for the future of molecular genetics diagnostics.