Secondary Findings Winter 2026 A somewhat lengthy post about all the non-anime and manga-related things i've been into.

A look at all the non-weeb related media I've been burying my head in recently. #writing #blog #secondaryfindings #vsvirsus

Reporting #secondaryfindings (SFs) in prenatal diagnosis has proven clinical utility—supporting pregnancy decision-making, informing parents of potential health risks, and enabling proactive reproductive planning! bit.ly/4hA20vb #PrenatalDiagnosis #PrecisionHealth

Out of sight out of mind. Shortening the time from consent to #results return may improve uptake of #secondaryfindings return. bit.ly/4ftAqPn #variantclassification

Is it worth it? Return of additional findings following genomic sequencing may not be #costeffective. bit.ly/4f37v4y #100kGP #healtheconomics #secondaryfindings

Receiving additional findings (AFs) from genome sequencing is largely a positive experience, but not surprisingly finding #cancer susceptibility causes more anxiety than a risk for hypercholesterolemia. bit.ly/3T3VEZw #FH #secondaryfindings #genomesequencing

2025 - ACMG Policy Statement with updated list of 84 genes (ACMG SF v3.3) #RareDisease #Genetics #ACMG #ClinGen #SecondaryFindings search.clinicalgenome.org/kb/genes/acm...

Should X-linked Adrenoleukodystrophy be included in the list of disorders recommended for reporting as #secondaryfindings on #exome and #genome sequencing? bit.ly/4jdiNUb #XALD #Leukodystrophy

Screenshot of Figure 1. Detecting SMA using reads aligned to the SMN1 and SMN2 paralogs A. The SMN1 and SMN2 paralogs are 99.9% identical. One of the few differences between them occurs at their c.840 position. The ‘C’ at this position in SMN1 leads to proper splicing, while the ‘T’ in SMN2 leads to skipping of exon 7 in most SMN2 transcripts. Individuals that have zero functional copies of SMN1 develop spinal muscular atrophy (SMA), and the severity of their disease is inversely proportional to the number of copies of SMN2 in their genome since each copy of SMN2 can produce a small amount of SMN protein.

Don't miss a treatable disorder! SMA Finder tool can identify SMA in exome, genome & panel datasets. Should SMN1 be added to ACMG #SecondaryFindings list? bit.ly/4fYvjp0