Posted: Feb 07, 2023
Practical Considerations for Reinterpretation of Individual Genetic Variants
PS Applebaum et al, Genetics in Medicine, February 6, 2023
With the growing use of genetic testing in medicine, the question of when genetic findings should be reinterpreted in light of new data has become inescapable. The generation of population and disease-specific data, development of computational tools, and new understandings of the relationship of specific genes to disorders can all trigger changes in variant classification that may have important implications for patients and the clinicians caring for them. This is a particular concern for patients from groups underrepresented in current reference datasets, since they have higher rates of uncertain findings.
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
Jette J Bakhuizen et al. JAMA network open 2023 2 (2) e2254157
What is the diagnostic yield of phenotype-driven genetic testing in children with cancer? In this unselected cohort study of 824 Dutch children with a neoplasm, a cancer predisposition syndrome was found in 71 patients (8.6%), of which most (96%) were identified by a phenotype-driven approach.
Exploring Autistic adults' perspectives on genetic testing for autism.
Byres Loryn et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 1 100021
In total 461 respondents completed the survey: while 27% would have wanted genetic testing during childhood, 74% felt that it should only be offered if the Autistic individual is able to consent and 49% felt that genetic testing for autism should not be done at all. Additional work is required to bridge the divide between the Autistic community and health care providers and families to identify if and when genetic testing should be offered.
Association of Genetic Diagnoses of Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson Ryan J et al. JAMA otolaryngology-- head & neck surgery 2023 1
n this cross-sectional study of 449 children with SNHL, genomic sequencing identified a genetic cause of SNHL for more than 50% of affected children, with 43 genes involved. Cochlear implants were successful in all participants who underwent implant, but children with hearing loss due to deafness-causing alleles of TMPRSS3 and MITF had the best results on speech performance tests. The results suggest that genetic testing is a valuable prognostic tool for managing pediatric hearing loss and a predictor for cochlear implant outcomes.