S. Kummerfeld

TL;DR: Despite healthcare professionals (HCP) endorsing the clinical utility of pharmacogenomics testing, use in clinical practice is limited as discussed by the authors , despite many HCPs endorsing its utility in clinical care.

TL;DR: In this paper , the authors identified pathogenic primary Leber hereditary optic neuropathy (LHON) variants in whole-genome sequencing data of a well-characterized population-based control cohort and found that the prevalence is far greater than previously estimated, as it occurs in approximately 1 in 800 individuals.

TL;DR: In this article , the authors describe the development of three responses to overcome the challenges of the COVID-19 pandemic: pivoting to online education sufficient to ensure informed consent for both genetic and genomic testing; development of contactless telehealth with remote training and supervision for collecting genetic samples using buccal swabs; and a novel patient and specimen identification "GeneTrustee" protocol enabling fully identified clinical-grade specimens to be collected and DNA extracted by a research laboratory while maintaining full participant confidentiality and privacy.

TL;DR: Approximate quantitation of various variants including single base substitutions and deletions down to 0.3% variant allele frequency is demonstrated to allow biopsy-free tumor genotyping and sensitive ct DNA quantitation, providing promising evidence for the utility of quantitative ctDNA detection in hepatoblastoma.