Improving access to exome sequencing in a medically underserved population through the Texome Project
B Vucuolo et al, Genetics in Medicine, February 29, 2024
From the abstract: "The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project. We highlight the Texome Project process and describe the outcomes of the first 60 ES results for study participants. Participants received a genetic evaluation, ES, and return of results at no cost. We summarize the psychosocial or medical implications of these genetic diagnoses. "
Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
J Pucel et al, Genetics in Medicine, March 1, 2024
From the abstract: "In this case control study, we reviewed data from 400 diagnosed and 400 undiagnosed randomly selected participants in the Undiagnosed Diseases Network (UDN), all of whom had undergone ES and/or GS. We analyzed factors associated with receiving a diagnosis by ES and/or GS.
Factors associated with a decreased odds of being diagnosed included adult symptom onset, singleton sequencing, and having undergone ES and/or GS prior to acceptance to the UDN (48%, 51%, and 32% lower odds, respectively). Factors that increased the odds of being diagnosed by ES and/or GS included having primarily neurological symptoms and having undergone prior chromosomal microarray testing. "
Overcoming barriers to equitable genomic healthcare
KM Girisha, EJHG, February 13, 2024
From the article: "We all recognize the pivotal role of next-generation sequencing in the diagnosis and discovery of rare diseases that are majorly genetic in origin. While limited access might be the result of economic constraints in the three-fourths of the global population, it might also be due to infrastructure (genetic testing laboratories) or trained manpower (genome analysts) in other situations. "
The cost of proband and trio exome and genome analysis in rare disease: a micro-costing study.
Dylan A Mordaunt et al. Genet Med 2024 1 101058
From the abstract: "Rare disease genomic testing is a complex process involving various resources. Accurate resource estimation is required for informed prioritization and reimbursement decisions. This study aims to analyze the costs and cost drivers of clinical genomic testing. The most expensive cost component of genomic testing was sequencing (36.9% - 69.4% of total cost), with labor accounting for 27.1% - 63.2% of total cost. "