A flurry of interesting articles at Linked In today.
### EU AND INNOVATION
The prolific Denis Horgan writes about EU at a "crucial turning point in healthcare innovation." (And not hard to draw some dotted lines between EU issues and US issues).
Here. (He cites to a new EU document.)
### LDT REGULATORY ARTICLE
Frequent Linked-In contributor Shannon Bennett links us to a new (firewall) article on "Regulatory Requirements for Laboratory Developed Tests in the United States," in J Imm Meth, 27 January 2025. Find it here. Bennett et al.
### ALL ABOUT THE FDA LDT CASE
Xander van Wijk updates at Linked-In on the FDA LDT case, with numerous links to months of major court filings. Note the most recent, a court filing that has led to an oral arguments hearing on February 19. His article here. (He closes by saying, expect an update on the new adminstration, soon.)
### SURVIVING A MOLDX REVIEW
Becky Winslow of IngeniousRx gives a case study of a genomics lab that failed its MolDx tech assessment and was ready to throw in the towel. She helped them understand how they could turn-around and succeed with MolDx. Find the story here.
### CGP WITH WGS VS LARGE PANELS
Svetlana Nikic carefully assesses a new paper comparing WES-WGS (plus transcriptome) in tumors, compared to large panels (e.g. several hundred genes). Read her assessment here.
See the original papaeer, Kerle et al., in Nature/ Precision Oncology, published January 10. Looks like open access here. Most authors from Dresden.
## WHY UNDERSTANDING THE NEWS MATTERS
Not from Linked In, but from Bloomberg. A few weeks ago I noted news about the declining numbers of Wall Street analysts who assess buy/sell news. (Blog).
Update - More of the same idea at Bloomberg on January 31 (see Justina Lee.) Is the market becoming irrational due to the mass investments in (rational) index funds?
My takeaway is - Given the extra high volatility of Genomics stocks (quick example here), the decline of analysts in general should create even more value in those analysts who DO understand and track (bet on) genomics by using a deep and hard-won understanding of the policy and technology complexities.
###
AI CORNER
Chat GPT 4 reads & summarizes Kerle et al. on WGS in tumors.
TL;DR: Whole Genome vs. Panel Sequencing in Precision Oncology
This study compares whole-exome/whole-genome sequencing (WES/WGS) + transcriptome sequencing (TS) versus broad panel sequencing (Illumina TSO500/TST170) for precision oncology.
Key Findings:
- Therapy Recommendations (TRs): WGS/TS provided slightly more therapy recommendations per patient than panel sequencing.
- Overlap: ~50% of TRs were identical between WGS/TS and panel sequencing.
- Advantages of WGS/TS:
- Captures RNA expression, mutational signatures (e.g., SBS3, HRD scores), and structural alterations not covered by panels.
- Some actionable fusion genes and copy number variations (CNVs) were missed by the panel.
- Panel Sequencing Advantages:
- Faster turnaround, lower cost, and easier logistics (can use FFPE samples).
- Panel sequencing successfully detected 4/5 pathogenic germline variants, recommending genetic counseling in three cases.
- Clinical Impact:
- 10 molecularly informed therapies were implemented, 8 of which were supported by the panel.
- 2 therapies were based on biomarkers only detected by WGS/TS, supporting the added clinical value of comprehensive sequencing.
Conclusion: While WGS/TS provides a broader molecular profile, panel sequencing remains a more practical choice for routine clinical use. Further randomized trials are needed to assess the true cost-benefit of WGS/TS in oncology.
