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Precision Medicine Needs to Think Outside the Box.

Daphne O Martschenko1, Jennifer L Young1,2

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Precision medicine aims to personalize healthcare but often overlooks human diversity. Current genomic approaches fail individuals with mixed ancestries, hindering equitable advancements in personalized medicine.

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Area of Science:

  • Genomics
  • Personalized Medicine
  • Bioethics

Background:

  • Precision medicine seeks to tailor treatments based on individual genetic, environmental, and lifestyle factors.
  • Existing medical practices often rely on broad racial, ethnic, or ancestral categorizations.
  • Genomic studies are foundational to precision medicine's development.

Purpose of the Study:

  • To evaluate the extent to which precision medicine and its underlying genomic studies account for human diversity.
  • To identify limitations in current precision medicine frameworks regarding individuals with complex genetic ancestries.
  • To argue for the necessity of inclusive solutions that address individuals outside existing population labels.

Main Methods:

  • Conceptual analysis of precision medicine principles and genomic study methodologies.
  • Critique of existing population categorization in genetic research.
  • Examination of case scenarios involving individuals with mosaic genetic ancestries.

Main Results:

  • Precision medicine, despite its goals, continues to utilize simplistic categorization similar to traditional medicine.
  • Genomic studies have not adequately incorporated the complexities of human genetic diversity.
  • Individuals with mixed or non-traditional ancestries are often excluded or misrepresented by current models.

Conclusions:

  • Current precision medicine approaches fall short of their potential due to a failure to embrace human diversity.
  • Inclusive solutions are required to accurately represent and serve individuals with complex genetic backgrounds.
  • Addressing these categorization issues is crucial for achieving truly equitable and effective precision medicine.