"Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling

Area of Science:

• Genomics
• Clinical Diagnostics
• Personalized Medicine

Background:

• The advent of personalized medicine necessitates advanced diagnostic tools.
• Physicians require robust assays for accurate patient management.
• The Baylor PGP assay was developed to address these clinical needs.

Purpose of the Study:

• To introduce the first-generation Personal Genome Profile (Baylor PGP) assay.
• To outline the principles guiding its design: quality, robustness, cost-effectiveness, flexibility, and clinical utility.
• To highlight its focus on rare disease-causing mutations for immediate clinical impact.

Main Methods:

• Development of a first-generation Personal Genome Profile (Baylor PGP) assay.
• Emphasis on extensive screening for rare disease-causing mutations.
• Integration into established medical records for physician use.

Main Results:

• The Baylor PGP assay provides a framework for clinical diagnostic array genotyping.
• It enables cost-effective screening for mutations with large direct effects.
• Potential applications include disease diagnosis, carrier detection, and prenatal diagnosis.

Conclusions:

• The Baylor PGP assay offers a practical and cost-effective approach to genetic profiling.
• It has the potential for significant clinical impact in diagnosing and managing genetic diseases.
• The assay serves as both a consumer counseling tool and a physician resource.