RESUMO
Background: Due to racial, cultural, and linguistic marginalization, some populations experience disproportionate barriers to genetic testing in both clinical and research settings. It is difficult to track such disparities due to non-inclusive self-reported race and ethnicity categories within the electronic health record (EHR). Inclusion and access for all populations is critical to achieve health equity and to capture the full spectrum of rare genetic disease. Objective: We aimed to create revised race and ethnicity categories. Additionally, we identified racial and ethnic under-representation amongst three cohorts: (1) the general Boston Children's Hospital patient population (general BCH), (2) the BCH patient population that underwent clinical genomic testing (clinical sequencing), and (3) Children's Rare Disease Cohort (CRDC) research initiative participants. Design and Methods: Race and ethnicity data were collected from the EHRs of the general BCH, clinical sequencing, and CRDC cohorts. We constructed a single comprehensive set of race and ethnicity categories. EHR-based race and ethnicity variables were mapped within each cohort to the revised categories. Then, the numbers of patients within each revised race and ethnicity category were compared across cohorts. Results: There was a significantly lower percentage of Black or African American/African, non-Hispanic/non-Latine individuals in the CRDC cohort compared with the general BCH cohort, but there was no statistically significant difference between the CRDC and the clinical sequencing cohorts. There was a significantly lower percentage of multi-racial, Hispanic/Latine individuals in the CRDC cohort than the clinical sequencing cohort. White, non-Hispanic/non-Latine individuals were over-represented in the CRDC compared to the two other groups. Conclusion: We highlight underrepresentation of certain racial and ethnic populations in sequencing cohorts compared to the general hospital population. We propose a range of measures to address these disparities, to strive for equitable future precision medicine-based clinical care and for the benefit of the whole rare disease community.
Racial and ethnic representation amongst general clinics, clinics that provide genetic testing, and genomic-based research at Boston Children's Hospital Background: Individuals who identify as belonging to a race or ethnicity that has been historically excluded from mainstream cultural, political, and economic activities ('historically marginalized') experience barriers to clinical care. These barriers are further complicated for families touched by rare genetic conditions. Obstacles can present as accessibility issues (transportation, financial, linguistic), low-quality medical care, or inadequate inclusion in research. It is important to have representation within rare disease research so that the full scope of these conditions is understood, leading to better patient care for all, and for health equity. Objective: We aimed to (1) to create new and inclusive race and ethnicity categories for the electronic health record (EHR) and (2) identify differences in racial and ethnic representation amongst patients generally seen at Boston Children's Hospital (general BCH), those who received genetic testing in a clinic at Boston Children's Hospital (clinical sequencing), and participants who enrolled in the CRDC research project at Boston Children's Hospital (CRDC). Design and Methods: We combined race and ethnicity categories to make more inclusive options than existing EHR categories. Differences in race and ethnicity representation were observed when looking at the three different patient groups (general BCH, clinical sequencing, and CRDC). Results: We observed a lower percentage of individuals who self-identify as Black or African American/African, non-Hispanic/non-Latine in the genetic testing groups (both research and clinical) than in the general BCH group. Individuals who self-identify as multi-racial, Hispanic/Latine are also under-represented in the CRDC research compared to the two other groups. The highest population percentage seen in all groups was that of patients who identify as White, non-Hispanic/non-Latine. This group was over-represented in the research CRDC group compared to the two others. Conclusion: Our study found that patients who are historically marginalized are underrepresented in clinical genetic testing and genomic research studies compared to their White counterparts. In order to benefit all patients with rare genetic conditions, these differences must be addressed by improving access to specialty physicians/researchers and incorporating inclusive language in the EHR, clinics, and research protocols.
