RDI advocates for equitable to access diagnostic tools for the over 300 million Persons Living with a Rare Disease worldwide.
Out of the 6000 to 8000 known rare diseases, nearly 72% are of genetic origin. Persons Living with a Rare Disease (PLWRD) are a particularly vulnerable population who would benefit significantly from more equitable access to genomic technologies.
RDI submission ON “Accelerating access to genomic technologies for global health”
Submission to the World Health Organization (WHO) following the WHO Workshop Series – “Accelerating access to genomic technologies for global health”
Upscaling primary health care (PHC) is critical to implementing genomic services.
Strengthening PHC, as defined by the WHO, is essential to accelerate access to genomic technologies and support progress toward Universal Health Coverage.
- Strengthen healthcare systems with improved connections between primary health care and specialist care to avoid silos in diagnostic and care pathways.
- Develop technologies supporting clinical genomics tailored to areas with poor or no internet coverage, including mobile health and other approaches.
- Strengthen healthcare systems with improved connections between primary health care and specialist care to avoid silos in diagnostic and care pathways.
- Develop technologies supporting clinical genomics tailored to areas with poor or no internet coverage, including mobile health and other approaches.
Provisions for developing competency in genetic counselling.
Though the role of genetic counsellors has to be recognised as being of critical importance, genetic counselling should be accessible broadly across the spectrum of primary and specialist care providers, and not be limited to genetic counsellors.
In addition to growing the genomic workforce capacity across a range of health care providers, specific attention should be given to empowering nursing teams as an essential component to support the genomic health journey.
- Recognise the need for culturally safe and responsive approaches tailored to community narratives, languages and means of consent which may also include dynamic consenting.
- Address the stigma at times associated with genetic and rare diseases
Cultural considerations for the use of genomic biospecimens and data sharing.
Cultural considerations are relevant for all peoples and require specific sensitivity when addressing indigenous and vulnerable populations. Particular attention must be given to ensuring the return of benefit and restoring and maintaining data sovereignty.
- Indigenous experiences with genetic research have been marked by a series of negative interactions. Currently, there is increasing recognition that equitable benefits can only be realised through greater participation of indigenous communities. Trust, accountability and equity should be fundamental principles of these interactions.
- It is critical that Indigenous data sharing embraces both FAIR (Findable, Accessible, Interoperable and Reusable) and CARE principles (collective benefit, authority to control, responsibility, ethics)
Key references
- Nguengang Wakap S, Lambert DM, Olry A, et al. 2020. “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.”
- https://www.who.int/teams/integrated-health-services/clinical-services-and-systems/primary-care
- D’Angelo et al. 2020. “Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.”
- Hudson et al. 2020. “Rights, interests and expectations: Indigenous perspectives on unrestricted access to genomic data”