Tonight, I watched Cate Paschal from the Seattle Children’s Hospital. They spoke about “Exploration of long-read sequencing in the resolution of newborn screening.” This was a London Calling 2024 session. Paschal spoke about newborn screening as a diagnostic test for rare diseases. Paschal explained that Pompe disease is a glycogen storage disorder with a prevalence of 1 in 40,000. This disease is treatable. Typically, a series of tests are done. Paschal shared examples of how Nanopore sequencing can be used to test for allele deletions and variants. An adaptive sampling approach is used to detect rare variants. In a second example, they found which variants were on which alleles. This family was told they had a positive results and it turned out to be a false positive! Paschal, a clinical lab director, explained that some assays can’t be performed in their lab. Now, with long-read sequencing, assays can be performed on-site. Preliminary studies have provided promising results with dried blood spots. In summary, Paschal shared how long-read sequencing can improve newborn screening. I found the false positive case that Paschal described intriguing. This further emphasized the need for better diagnostics.
