Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.
Introduction The complexity and relative high cost of genetic tests combined with stringent administrative and medical coverage policies can negatively impact test accessibility and, ultimately, patient care. The burden of test preauthorization typically falls on the ordering provider and team, and is particularly cumbersome for specialists that do not have genetics expertise. As part of the Seattle Children’s laboratory stewardship program, we integrated laboratory genetic counselors (GCs) in a hospital-wide genetic test preauthorization and order review process to support efficient test authorization and ensure appropriate genetic test utilization. Methods A rotating team of laboratory GCs reviews all genetic test requests at the time of preauthorization for medical necessity, optimal test selection, and CPT coding. This information is triaged to our centralized insurance processing department for submission to payers. Lab GCs review test orders for the same elements, preauthorization status, and supporting paperwork. Conclusions The 7,889 preauth requests and 7,177 test orders have been reviewed in our institution since implementing this two-phase review process in January 2016. Twenty-eight percent of requests were modified or cancelled at the time of preauth review, with the majority of modifications related to test optimization and improved necessity documentation. Additionally, 21% of requests were modified or cancelled when reviewed at the time of order. The intervention resulted in $1.5M cost-avoidance accrued since 2016. A recent provider survey revealed that 90% of providers are neutral, very, or extremely satisfied with the genetic test authorization process and support provided by the laboratory GC team. By integrating a laboratory GC case review process, we supported effective genetic test utilization at our institution, reduced collective provider and staff time and rework related to insurance authorization, and reduced financial liability for the patient/family and institution.
Context.— Genomic molecular testing practices in a pediatric tertiary care institution. Objective.— To evaluate exome sequencing (ES) ordering practices and the effects of applying criteria to support ES stewardship. Exome sequencing can provide molecular diagnostic information for patients with known or suspected genetic diseases, but it is relatively expensive, and the cost is often borne by patients, institutions, and payers. Design.— We examined ordering patterns of ES approved by board-certified geneticists at our tertiary pediatric care center, as well as preauthorization outcomes for ES requests. We compared positivity rates among patients by patient phenotype, composite insurance coverage criteria, and insurance preauthorization outcome. Results.— Patients who met composite coverage criteria were more likely to receive a positive result from ES compared to patients who did not meet composite coverage criteria, though this trend was not statistically significant. There was no significant difference in ES results between patients who were denied or not denied preauthorization by insurance payers. Conclusions.— Insurance payers should consider implementing and/or expanding coverage criteria for ES and institutions should implement stewardship programs to support appropriate ES practices.
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