PCORI funded the Pilot Projects to explore how to conduct and use patient-centered outcomes research in ways that can better serve patients and the healthcare community. Learn more.
In North America alone, the rare diseases recognized by the National Institutes of Health affect an estimated 30 million persons or 10% of the population. Rare diseases result in negative health outcomes (burden) independent of their pathological symptoms. Features of the burden include: sparse research resources, treatment options, and knowledgeable providers, leading to diagnostic delay that affects patient outcomes; lack of access to adequate care; lost faith in the healthcare system; lack of public awareness and concern; scarce affordable options for medications, drugs, and therapeutics; stigma; and insurability concerns.
This pilot project attempted to address two questions: (1) How can a rare disease community use community research partnership approaches to measure social burden related to their health care and health? and (2) What constructs should be measured through a scale administered to the patient community?
The study design included traditional methods of instrument development (focus groups, interviews, item generation and field-testing). A community-based research partnership conducted all research activities. Patients and community leaders were first trained and then involved at each step of the research process, including conducting interviews, designing scale items, recruiting for field-testing, and qualitative data analysis. The resulting Social Burden Scale for patients living with rare genetic conditions is a patient-driven and designed measure of community members’ perceptions.
Participants, Interventions, Settings, and Outcomes
Participants in this study were stakeholders from the Alpha-1 Antitrypsin Deficiency disorder community, including patients, nonprofit foundation leaders, providers, and the Alpha-1 Research Patient Registry engaged in this study. Sampling and recruiting occurred with the support of the registry and the Alpha-1 Foundation educational conferences held throughout the United States. Patients recruited each other using social media, email, and the Internet.
The setting for interviews and focus groups was mainly regional, state, or European patient education conferences, sponsored by the Alpha-1 Foundation. Locations of focus groups and interviews included West Virginia, Oklahoma, Texas, Florida, South Carolina, Colorado, Barcelona (Spain), and Washington. Regional meetings pulled in patients living all over the United States and Europe. The focus groups were held at conference centers and hotels in communities across the United States, and at a hospital in Denver, Colorado. Some interviews were conducted by telephone. The Social Burden Scale was administered and patients responded online.
The Social Burden Scale for patients living with rare genetic conditions measures several constructs. This pilot’s outcome of interest was the psychometric development and performance of a scale. Specifically, researchers measured the scale’s content and construct validity and reliability.
Qualitative data from focus groups and interviews were coded using deductive and inductive analysis strategies. A team conducted the coding and team members audited each other’s coding. Themes that emerged from the narrative statements became constructs for developing scale items.
Qualitative analysis determined two major burden constructs: (1) the condition’s rarity and (2) its genetic etiology. Sub-constructs attributed to the major constructs included: diagnostic delay, lack of knowledgeable providers, and burdens related to family implications of genetic information. Researchers also found that for each sub-construct, there was identifiable psychosocial sequelae.
Field-testing was limited and more is necessary to better understand the scale’s validity and reliability in other rare disease populations. This study was limited to patients with one common rare condition.
Persons living with Alpha-1 antitrypsin deficiency disorder may experience socially driven burdens associated with healthcare disparities. However, the social burden of living with this rare disease has latent, measurable constructs, and this work advances methods to study those constructs.