{
  "abstract": "Introduction Racial and ethnic disparities in access to healthcare and diagnostic delays are well described across many areas of medicine and are further amplified in the context of inherited and rare cardiac conditions. Birmingham is one of the most ethnically diverse cities in the UK, yet local rare cardiac disease services do not reflect the population served. Data from our centre demonstrate under-representation of people from minority ethnic groups within our Fabry disease (FD) service, with only 9% of cases from minority ethnic backgrounds, despite these groups comprising over 50% of the Birmingham population and approximately 18% of the wider England and Wales population. 1 This represents a significant equality, diversity and inclusion challenge within cardiovascular service delivery.Methods We developed a structured quality improvement programme designed to address structural, cultural and access-related barriers contributing to under-diagnosis of inherited cardiac conditions in non-White populations. The programme was guided by early community engagement, including focus groups with community health connectors from Birmingham and the wider region exploring barriers to diagnosis among ethnic minority groups.Key components of the programme include: (1) digital screening of primary and secondary care records to identify individuals with features suggestive of inherited cardiac disease; (2) community-based identification through partnership with local initiatives such as the Birmingham and Lewisham African and Caribbean Health Inequalities Review (BLACHIR) work programme, to guide engagement, support creation of culturally appropriate information, and train trusted community members as ‘Community Champions’ to raise awareness, collect family histories and facilitate referral; (3) development of a dedicated clinical pathway to provide timely specialist assessment and investigation for individuals identified through digital or community routes; and (4) training for healthcare professionals and community organisations on rare cardiac disease and referral pathways.Results Initial service evaluation demonstrated marked ethnic disparities in representation within our FD service, despite the condition affecting all ethnic groups equally. Community engagement through focus groups highlighted the importance of family history in triggering consideration of inherited cardiac disease and identified distrust of traditional healthcare pathways as a key barrier to engagement. These findings directly informed development of a service programme aimed at reducing diagnostic delay and improving equity in access to specialist assessment.Conclusion Addressing racial and ethnic disparities is a critical priority for cardiovascular services and aligns with NHS principles of equity and universality. While the drivers of health inequality are well recognised, evidence on how to address these barriers remains limited in inherited and rare cardiac conditions, where diagnostic delay, limited awareness and complex presentation further compound inequity. This service-led initiative responds to locally identified disparities by using community insight alongside healthcare data, in line with national priorities including the NHS Long Term Plan and the England Rare Disease Action Plan. Combining digital innovation, community partnership and redesigned clinical pathways offers a scalable model for inclusive cardiovascular care.Reference Church Smith CL, Roy A, Steeds S, Tuzcuoglu N, Wingrove C, Aitchison K, Radford C, Boyes LA, Stewart F, Geberhiwot T, Steeds RP. Underdiagnosis of Fabry disease in minority ethnic groups. Mol Genet Metab Rep. 2020 Jan 17;42:101194.Acknowledgement Service evaluation was conducted as part of a collaborative working arrangement with Amicus Therapeutics, which includes provision of funding and project management. Community focus groups were funded by Amicus Therapeutics",
  "authors": [
    {
      "affiliations": [
        "University of Birmingham, Birmingham, United Kingdom",
        "University Hospitals Birmingham, Birmingham, United Kingdom"
      ],
      "name": "Sophie Thompson"
    },
    {
      "affiliations": [
        "Amicus Therapeutics, Marlow, United Kingdom"
      ],
      "name": "Natalie Tuzcuoglu"
    },
    {
      "affiliations": [
        "Amicus Therapeutics, Marlow, United Kingdom"
      ],
      "name": "Christopher Wingrove"
    },
    {
      "affiliations": [
        "Birmingham Community Healthcare NHS Foundation Trust, Birmingham, United Kingdom"
      ],
      "name": "Farhana Darwich"
    },
    {
      "affiliations": [
        "University Hospitals Birmingham, Birmingham, United Kingdom"
      ],
      "name": "Richard Steeds"
    }
  ],
  "title": "390 Identifying rare disease in non-white populations through screening, partnerships, inclusive research and education: the inspire project",
  "uid": "379d3ed4-e699-5c06-b8fe-e31d76094c76"
}