Underdiagnosis of autism in children with fragile X syndrome reveals need for better education, early screening
E Bluvas, Medical Xpress, August 2023
From the article: A recent study "conducted comprehensive, best-practice clinical autism diagnostic assessments in young males (ages 15-24) with fragile X syndrome (i.e., the most common single-gene cause of autism spectrum disorder and other intellectual disabilities). The study found that, although 75 percent of participants met criteria for autism through the research protocol, only 31 percent had been identified as having autism in the community."
Social and physical predictors of mental health impact in adult women who have an FMR1 premutation
C Kraan et al, Genetics in Med Open, August 26, 2023
From the abstract: "Clear understanding of mental health phenotypes and associated socioeconomic, physical health and wellbeing impacts in adult women with an FMR1 premutation (PM) is needed for counselling and primary healthcare. This is a survey of 137 participants. Depression was found in ~30% and social anxiety in ~38%. With depression status the outcome variable, strongest associations were for low education, diagnosis of migraine, diagnosis of irritable bowel syndrome (IBS) and self-reported hearing loss symptoms."
Grand challenges in bioinformatics education and training.
Esra Büsra Isik et al. Nat Biotechnol 2023 8 (8) 1171-1174
From the paper: "The life and health science communities are facing a critical challenge with managing a discovery process that is becoming ever more quantitative and data driven. Key to meeting this challenge is bioinformatics — which can be defined as the science of collecting, managing, analyzing, modeling and generating predictions from large amounts of biological data and information. Bioinformatics is a highly interdisciplinary field involving expertise from many specialties."
We need a genomics-savvy healthcare workforce
Nature Medicine, August 16, 2023
The increasingly central role of genomics in healthcare means that not only are more genetic counselors needed, but also multidisciplinary teams are essential for utilizing genomic technologies in the clinical setting. Genomic tests (such as those based on whole-exome or whole-genome sequencing) generate an enormous amount of highly complex data, which requires professionals with specialized bioinformatic skills and the know-how to operate within clinically accredited frameworks. In addition, although genomics is currently the most common ‘-omic’ used in the clinic, transcriptomics and proteomics are also being incorporated into algorithms to inform clinical practice.