Next-Generation Sequencing, Today
Though sometimes described as a marvel of the future, personalized medicine is already having an impact on patients today particularly in the fields of oncology, cardiopulmonary, neurodegenerative, infectious, pre- and perinatal disease.
Overcome Obstacles of the Past
The personalized medicine revolution is enabling clinicians to address many of the significant obstacles to optimal health care, including delays in diagnosis or treatment and administration of therapies which are ineffective or associated with serious side effects.
Find Your Precision Medicine Partner
Our approach uses next-generation sequencing technology and proprietary informatics systems for tumor analysis and drug matching. Our founding team possesses unmatched knowledge in-practice in this emerging field, and we welcome the opportunity to explore ways our experience can serve your organization and help you provide the best possible patient care.
Introducing the GEM ExTra™, Ashion Analytics™ flagship clinical assay.
The GEM (Genomic Enabled Medicine) ExTra™ test provides treating physicians with vital interpreted information they need to understand changes to their patient’s genomic profile, and outline a therapeutic treatment plan best-suited for them. Conditions that may benefit from this approach include treatment of refractory, rare or aggressive cancers.
Ashion Analytics' laboratory, data analysis and interpretation approaches compare the sequence of genes in both tumor (somatic) and normal (germline) DNA.
Concomitant analysis of germline DNA allows for quick identification of true somatic alterations and maximizes the likelihood of identifying tumor-specific variations with an accuracy of >99%. This allows drug relationships to be based solely on tumor-specific DNA alterations, thus increasing treatment safety.
Our team has pioneered this approach since 2010. Recent studies of importance from TGen and others support analysis of both tumor and normal specimens.
The data from this research suggests that matched tumor-normal sequencing analyses are essential for precise identification and interpretation of somatic and germline alterations, having important implications for the diagnostic and therapeutic management of cancer patients.
- Whole Exome sequencing—to identify point mutations, amplifications, deletions, and fusions in the full set of protein-coding genes and in therapeutically actionable non-coding regions (e.g., TERT promoter, common translocation junctions).
- Transcriptome sequencing—to identify the expression of RNA transcripts that may guide therapy (e.g., targetable gene fusions).
- Tumor – normal exome subtraction—to help clearly distinguish somatic mutation from benign background variation.
- Results are presented in single, integrated report with a cover page summarizing potentially clinically actionable findings, including:
- On- and off-label therapeutic options, including contra-indicated drugs
- Clinical trial options
- Markers to help guide checkpoint inhibitor therapy (MSI, TMB, and optional PD-L1 IHC)
- Turnaround time is 14 days.
Key Technical Highlights
- Regions Analyzed: A proprietary exome platform covering the exons of all known human genes and select promoters and introns relevant to cancer (e.g., TERT promoter, introns that participate in oncogenic fusions). The test also includes whole-transcriptome RNA profiling for fusions and transcriptional variants known to be relevant to cancer (e.g., EGFR vIII).
- Sequencing Method: Targeted enrichment followed by sequencing on a NovaSeq 6000 (Illumina, Inc.).
- Analytics: Methods include analysis of single nucleotide variants, insertions/deletions, structural variants, focal and whole genome copy number.
- Assay Sensitivity: 99.3%
- Assay Specificity: >99%
- Assay PPV: 99.5%
- Assay Precision: >95.7%
- Coverage: 500x
- Turn-around Time: 14 days.
- Test Requirements: Solid and Heme tumors accepted – see specimen requirements on submission form.
- Sample Types:
- Solid Tumor:
- At least 25mm² solid tumor or;
- 3-5 core needle biopsies in one or more FFPE blocks or;
- Unstained slides: 10 from a single tumor, ≥ 40 microns total or;
- Fresh Frozen Tissue (contact for details)
- Hematological Malignancies:
- Bone Marrow aspirate – 3-5mL EDTA <48 hours old
- Blood – 5ml in EDTA, less than 7 days old
- Saliva – Oragene Dx collection vial
- Solid Tumor:
- DNA Input Required: ≥ 150 ng.
- RNA Input Required: ≥ 150 ng.