Unlocking sociocultural and community factors for the global adoption of genomic medicine

Orphanet J Rare Dis. 2022 May 12;17(1):191. doi: 10.1186/s13023-022-02328-3.


Advances in genomic sequencing and genetic testing are increasingly transforming the diagnosis and treatment of diseases-specifically, rare diseases. However, the application and benefit of such technologies remain inequitable globally. There is a clear and urgent need to provide genomic sequencing to people across the global population, including people living in under-resourced areas and/or underrepresented populations. Financial considerations are the most obvious barriers to the adoption of genomic medicine, yet there are many other factors that are not so obvious, such as geography, language, communication, and culture. Herein, we use the lens of rare diseases and focus on firstly, selected socio-cultural factors, and in particular stigma; and secondly, empowering community factors such as education, advocacy and connectivity amongst people living with rare diseases globally. These are critical areas of need and opportunity if genomic medicine is to achieve equitable and global adoption in the patient best-interest across low- middle- and high-income country health systems. Furthermore, we touch on specific child health aspects and how they can point towards opportunities to build on specific infrastructures.

Keywords: Diagnosis; Equity; Genomic medicine; Genomic sequencing; Rare disease; Sociocultural factors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Genetic Testing
  • Genomic Medicine*
  • Humans
  • Rare Diseases* / genetics