Under‐referral of Plain community members for genetic services despite being qualified for genetic evaluation

Abstract

Plain community people (Amish and Mennonites) have increased risk of having recessive genetic disorders. This study was designed to assess the rate of referral of Plain people to genetic services at UPMC Children's Hospital of Pittsburgh. Medical records of Plain patients from a 1‐year time period were reviewed. Data collected included demographic information, clinical presentation, referral for genetic services, and diagnosis. Of the 303 patients, 102 (33.7%) had a clinical presentation suggestive of a genetic disorder, yet only 32 of those 102 patients (31.4%) had been evaluated by the division of Medical Genetics. These data indicate that less than half of Plain patients with a clinical presentation suggestive of a genetic disorder had been referred to the division of Medical Genetics for a formal evaluation. Now that under‐referral of Plain patients has been confirmed, providers can be educated in order to increase referrals for genetic services and facilitate positive healthcare outcomes for the Plain Community.

From the patient to the population: Use of genomics for population screening

“…There are currently disparities in access to and outcomes of genetics services. Racialized and underserved populations often have lower referral rates, differential rates of service uptake, more frequent misdiagnoses or inconclusive test results, older age and more advanced disease stage of diagnosis, and higher mortality rates ( Armstrong et al, 2005 ; Maddison et al, 2011 ; Cragun et al, 2015 ; Kerner et al, 2015 ; Purificacion et al, 2015 ; Manrai et al, 2016 ; Vohnout et al, 2016 ; Amrock et al, 2017 ; Landry and Rehm, 2018 ; Muller et al, 2018 ; Hendricks-Sturrup and Lu, 2019 ; Ndugga-Kabuye and Issaka, 2019 ; Ehrenberg et al, 2021 ). These disparities are present worldwide, highlighting the pervasiveness of health inequities and an urgency for strategies to address them prior to adoption of population screening, to avoid exacerbating these issues.…”