Are physicians prepared for whole genome sequencing? a qualitative analysis

Area of Science:

• Genomic Medicine
• Medical Education
• Clinical Genomics

Background:

• Whole genome sequencing (WGS) is increasingly feasible for clinical use.
• Physicians may lack preparedness to integrate WGS into standard medical practice.
• Genomic education is crucial for effective WGS implementation.

Purpose of the Study:

• To assess physician preparedness for using whole genome sequencing (WGS).
• To identify specific concerns of primary care physicians (PCPs) and cardiologists regarding WGS.
• To inform strategies for improving physician readiness for clinical genomics.

Main Methods:

• Semi-structured interviews with PCPs and cardiologists participating in a WGS randomized clinical trial.
• Team-based consensus-coding of interview transcripts to identify themes related to preparedness.
• Analysis of physician perspectives on genomic knowledge, result interpretation, and patient disclosure.

Main Results:

• Physicians pursued WGS trial participation primarily for future preparedness.
• PCPs worried about general genomic knowledge; cardiologists focused on result interpretation and secondary findings.
• Lack of laboratory guidance, time constraints, and absence of standards contributed to feelings of unpreparedness.

Conclusions:

• Physicians require specialty-specific training and support for WGS implementation.
• Addressing knowledge gaps and interpretation challenges is essential for physician confidence.
• Policy changes and enhanced educational resources are needed to prepare healthcare providers for clinical WGS.