Indiana Collaborative for Undiagnosed Rare Disease

Indiana University Indianapolis, Indianapolis IN

Investigators

Abstract

Project Summary/Abstract Undiagnosed and rare diseases affect approximately 30 million people in the United States. Those affected often undergo a prolonged diagnostic odyssey which places a significant financial and psychological burden on patients and families. These odysseys can be shortened by enabling access to diagnostic technologies which can leverage insights from genomic medicine to make progress towards an eventual diagnosis. While it is known that many underserved communities lack proper access to certain healthcare services, there is a lack of understanding regarding how these communities lack access to specialty care, such as genetic medicine. To date, there has yet to be a full accounting of how various spatial and non-spatial barriers impact an underserved community’s access to rare disease-related healthcare. The Indiana Collaborative for Undiagnosed Disease (ICUD), funded by the NINDS, seeks to improve care for individuals with undiagnosed and rare diseases residing in Indiana and has established community partnerships with healthcare organizations that provide care to underserved communities. The aims of these partnerships are to establish the capacity to provide rare disease-related healthcare to these communities. The ICUD, then, provides an opportunity to understand the various barriers that underserved communities face when attempting to access rare disease-related healthcare. For this project, 30 individuals from underserved communities who have a rare disease will complete a survey and interview pertaining to the spatial and non-spatial barriers that prevent them from accessing care. Additionally, 30 clinicians who primarily serve underserved communities will complete a survey and interview pertaining to the educational, administrative, and resource barriers that prevent them from addressing rare diseases within their practice. These 30 patients and 30 clinicians will be recruited from the ICUB community partnerships. The goal of this project is to produce an account of the various social, cultural, educational, environmental, and resource barriers that prevent certain communities from accessing diagnostic technologies and genetic medicine. This project will accomplish 3 aims. First, it will identify barriers of access that prevent certain communities from obtaining genetics-related healthcare. Second it will qualitatively assess how certain barriers compound with one another to create multifactorial or complex issues of access. Finally, it will assess patient and clinician attitudes towards and challenges with modalities that aim to improve access to healthcare. These aims make progress in NINDS mission of reducing the burden of neurological diseases for all people; by understanding the barriers that prevent a community’s access to diagnostic technologies that identify rare diseases, policymakers are better able to work towards solutions that address or alleviate the impact of these barriers.