Genomic sequencing in clinical practice: applications, challenges, and opportunities

Area of Science:

• Genomics
• Clinical Medicine
• Bioinformatics

Background:

• Massively parallel sequencing, also known as next-generation sequencing, has accelerated the clinical application of genomic sequencing (GS).
• GS is integral for diagnosing rare diseases, identifying cancer therapeutic targets, and prenatal aneuploidy screening.
• New applications like preconception carrier screening and predisposition screening are emerging in research and public use.

Purpose of the Study:

• To review the current state and challenges of genomic sequencing (GS) in clinical medicine.
• To highlight the rapid adoption and emerging applications of GS.
• To discuss the implementation hurdles and future potential of clinical GS.

Main Methods:

• Literature review of current applications and challenges in clinical genomic sequencing.
• Analysis of the impact of next-generation sequencing technology.
• Discussion of stakeholder challenges and future directions.

Main Results:

• Genomic sequencing is a crucial tool in various clinical areas, with expanding applications.
• Rapid adoption of GS has led to challenges in variant interpretation and clinician education.
• The field is at a critical juncture, balancing innovation with implementation issues.

Conclusions:

• Clinical genomic sequencing is rapidly evolving, offering significant potential for patient care.
• Addressing standardization and education challenges is vital for successful integration of GS.
• The future of clinical GS involves navigating complex data and implementation questions for further innovation.