Rare Perspectives Insights: Addressing VUS and Diversity in Rare Diseases through Newborn Sequencing
The potential of Newborn sequencing promises to eliminate variants of unknown significance by generating diverse genetic data from birth, enabling early disease detection, intervention, and comprehensive understanding of genetic variations across populations.
The Dawning of a New Age in Genomics
Genomenon’s resident Genomics visionary and Chief Scientific Officer Mark Kiel, shares his thoughts on how advances in AI, newborn screening, and collaborative research will ignite change in the coming year.
Why is Estimating Rare Disease Prevalence So Hard?
A recently published paper revealed that the prevalence of ENPP1 deficiency is more than triple the previous estimate. In this blog, co-author and Genomic Science Liaison Lauren Chunn explains why this paper is a must-read for orphan drug developers.
Discrepancies in Variant Classifications and How to Resolve Them
Variant classification discrepancies – where clinical laboratories and clinicians/genetic counselors disagree about the clinical meaningfulness of a variant – can impede the accurate diagnosis and subsequent treatment of patients.
ASHG and ICoNS – Event Recap and Insights from the CSO
Last week, I was in Los Angeles for ASHG. It was great to return in person after the pandemic pause to exchange ideas with industry and academic leaders in genetics. There is something irreplaceable about speaking face-to-face to make real connections and have lively discussions.
Curating The Human Genome – What It Will Mean and How We Can Make It Happen
The Human Genome Project, begun in 1990 and completed in 2003, was a major breakthrough for clinical genetics – the sequence of the human genome was no longer a mystery.