Genomic designation: how genetics can delineate new, phenotypically diffuse medical categories

Area of Science:

• Sociology of science and medicine
• Genomics and bioinformatics
• Medical ethics

Background:

• The concept of "genomic designation" redefines how individuals are classified in biomedical contexts.
• It shifts focus from observable phenotypes to underlying genomic characteristics for medical categorization.
• This contrasts with prior concepts like biosociability and geneticization.

Purpose of the Study:

• To introduce and discuss "genomic designation" as a novel framework for classifying individuals.
• To explore its historical development and sociological implications.
• To examine the shift towards a "molecular gaze" in scientific and clinical practice.

Main Methods:

• Conceptual analysis of sociological literature on genetics and medicine.
• Historical review of genomic classification approaches.
• Case study analysis using 22q13 Deletion/Phelan-McDermid syndrome.

Main Results:

• Genomic designation prioritizes genomic information for defining medical categories, decentralizing phenotypic data.
• The 22q13 Deletion/Phelan-McDermid syndrome illustrates how genomic discoveries can precede syndrome delineation.
• This method allows for the creation of distinct medical categories even with non-distinct phenotypes.

Conclusions:

• Genomic designation represents a significant shift in medical classification, driven by advances in genomics.
• This approach has profound implications for how individuals are categorized and understood within healthcare and society.
• Further research is needed to explore the ethical and social consequences of this genomic-centric classification.