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

Lynsey Chediak, Nicola Bedlington, Ayesha Gadson, Alastair Kent, Aiedah Abdul Khalek, Luke Rosen, Malisa Rust, Mohd. Farooq Shaikh, Meng Yoe Tan, Samuel Agyei Wiafe, Gareth Baynam, Charles A. Steward

Research output: Contribution to journalArticleOtherpeer-review

1 Citation (Scopus)


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.

Original languageEnglish
Article number191
Number of pages6
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 12 May 2022


  • Diagnosis
  • Equity
  • Genomic medicine
  • Genomic sequencing
  • Rare disease
  • Sociocultural factors

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