Last
Posted:
Jun 27, 2024
Highlights
Global health for rare diseases through primary care
From the article: " Genetic testing shows promise in diagnosing people with rare diseases, as over 72% of rare diseases have a genetic basis. Next-generation sequencing and other technologies have facilitated the time-effective and cost-effective diagnosis of most genetic diseases, but substantial challenges hinder widespread adoption. The lack of genetic workforce capacity is a global concern, even in high-income countries, with many regions and countries lacking sufficient genetic expertise. The low reimbursement by governments and private insurers for genetic services also poses an additional barrier. The combination of these factors prevent primary care providers from referring people with suspected rare disease to specialists, which delays diagnosis and treatment. "
Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder
From the abstract: "A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to additionally assess the diagnostic utility of genetic testing by test type, patient sex, and race and ethnicity. "
Family communication of cancer genetic test results in an ethnically diverse population: a qualitative exploration of more than 200 patients
From the abstract: " Previous research on family communication of cancer genetic test results has primarily focused on non-Hispanic White patients with high-risk pathogenic variants (PV). There are limited data on patient communication of moderate-risk PVs, variants of uncertain significance (VUS), and negative results. This qualitative study examined communication of positive, negative, and VUS hereditary cancer multi-gene panel (MGP) results in an ethnically and socioeconomically diverse population. "
Genetic Testing for Global Developmental Delay in Early Childhood
From the article: "What are the implications of genetic testing for global developmental delay (GDD) in early childhood? Findings: In this cohort study of 434 children with GDD, a diagnostic positivity rate of 61% was identified when using trio whole exome sequencing combined with copy number variation sequencing. A thorough analysis expanded the scope of indications for genetic testing, and the pathogenesis of GDD was further elucidated using a bioinformatics approach. Meaning: These findings suggest that early use of combined genetic testing for GDD may diminish the misdiagnosis rate, elucidate the etiologic diagnosis, and lay the groundwork for identifying novel early diagnostic biomarkers and intervention targets. "
