Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories

Area of Science:

• Genomic Medicine
• Clinical Genetics
• Bioethics

Background:

• Scientific bodies affirm race and ethnicity are social constructs, lacking genetic basis.
• Despite this, conventional descriptors are used in clinical genetic testing and interpretation.
• Existing guidance focuses on research, not clinical laboratory use of these descriptors.

Purpose of the Study:

• To provide insights into the relevance of population descriptors in clinical genetic testing and reporting.
• To discuss challenges in collecting and using these descriptors consistently in clinical settings.
• To explore their application in clinical research for advancing genomic medicine.

Main Methods:

• A decade of experience from a clinical genomics laboratory.
• Analysis of real-world experiences in collecting conventional population descriptors.
• Discussion of case examples illustrating current practices and challenges.

Main Results:

• Identified challenges in clarity and consistency when collecting population descriptors.
• Examined how population descriptors influence current clinical genomics laboratory practices.
• Demonstrated the utility of population descriptors in clinical research for genomic medicine insights.

Conclusions:

• Population descriptors, though social constructs, play a role in clinical genetics.
• Addressing inconsistencies in their use is crucial for accurate genetic testing and reporting.
• Leveraging these descriptors in research can drive advancements in genomic medicine.