Dr Charles Steward, Patient and Advocacy and Engagement (PAE) lead at Congenica, talks about the latest article that he and members of the PAE Board co-authored and has now published in the Orphanet Journal of Rare Diseases
Advances in genomic medicine are increasingly transforming the diagnosis and treatment of diseases — specifically rare diseases. However, being able to provide such testing to people across the global population, including people living in under-resourced areas and/or underrepresented populations is challenging for various reasons.
Clearly, financial, geographical and clinical considerations are the most obvious barriers to the adoption of genomic medicine. Yet, there are other factors that are not so obvious, including language, communication, religion, emotional barriers and cultural norms. Our article “Unlocking sociocultural and community factors for the global adoption of genomic medicine”, published last week in Orphanet Journal of Rare Diseases explored these factors. It was authored by a group of clinicians, policy experts, researchers and patient advocates based across five continents.
First author, Lynsey Chediak, Head of Impact & Patient Experience at Rarebase and Congenica Patient and Advocacy and Engagement Advisory (PAE) Board Member said:
“Despite the many differences that divide our global rare disease community, the experience of living with a rare disease is similar based on one connecting thread: stigma and the resulting sociocultural pressures. Such stigmas are intangible or even indiscernible to a layperson, but are actively inhibiting children and families affected by rare disease from reaching the care that could help with quality of life. We must address such community factors and sociocultural barriers in order to equitably deliver on the promise of genomic medicine and its potential to help all of us living with a rare disease.
“It was an honor to collaborate with my co-authors to begin the difficult task of articulating how sociocultural and community factors prevent genomic medicine from reaching our global rare disease community. Many thanks to Congenica for supporting the exploration of this critically important topic”.
Senior author, Dr Charles Steward, Patient Advocacy & Engagement (PAE) lead at Congenica said:
“As part of our Patient Advocacy and Engagement focus, we are investigating the barriers behind the adoption of genomic medicine around the world. By using the lens of rare diseases to focus on barriers to the global adoption of genomic medicine, we looked to complement the existing literature on barriers to diversity, equity and inclusion with specific focusses on socio-cultural aspects, and in particular stigma, as well as the critical role of patient advocacy plays. Furthermore, we looked at specific child health aspects and how they point towards opportunities to build on specific infrastructures. Collectively, our article also resonates with themes underlying the United Nations Resolution on Addressing the Challenges of Persons Living with a Rare Disease and their families.”
“Unlocking sociocultural and community factors for the global adoption of genomic medicine” is an initiative by Congenica’s Patient Advocacy and Engagement team to understand more about the global barriers that exist to the adoption of genomic medicine. See articles relating to our work in Hong Kong and Malaysia for more of our international advocacy collaborations.