Focused Panel Providing
Treatment
Options
This panel consisting of 50 genes is able
to identify the majority of the actionable variants of the comprehensive gene panel. This
more focused and streamlined gene panel can be equally effective in identifying relevant
mutations for targeted therapies or other actionable clinical interventions.
The advantage of this panel is reduced
cost, shorter turnaround time, and potentially easier interpretation of the findings, as it
focuses only on genes with established clinical significance or well-defined actionable
mutations.
This test facilitates wider access to
genomic profiling, particularly in settings with limited resources or infrastructure for
comprehensive genomic testing. In addition, this test can be done on liquid biopsies
longitudinally to allow the clinician to follow the patient’s response to therapy.
.
- Deep sequencing at 1,0000x coverage to detect
subclonal variants . Deep sequencing, typically ranging from 500x to
1,000x coverage, is often recommended for detecting subclonal variants in
next-generation sequencing (NGS) data. Deep sequencing can lead to high:
- Sensitivity: : Higher sequencing coverage
increases the sensitivity of variant detection, allowing for the detection of
low-frequency variants present in a small fraction of cells or subclones within
a sample. This is particularly important for identifying subclonal variants,
which may be present at lower allele frequencies compared to dominant or clonal
variants.
- Precision:
Higher coverage also improves the precision of variant calling, reducing
the false positive rate and increasing the accuracy of variant detection. This
is important for minimizing false positives that can result from sequencing
errors, mapping errors, or other technical artifacts.
- Statistical power:
Higher coverage increases the statistical power for detecting variants,
particularly rare variants. It provides more robust evidence for the presence of
a variant, which is particularly important when dealing with low-frequency
subclonal variants that may be present in a small fraction of cells.
- Reproducibility: Higher coverage helps ensure
the
reproducibility of variant calling results across different samples, sequencing
runs, or bioinformatics pipelines. It provides a more consistent and reliable
basis for comparing variant calls across different datasets or studies.
- Variants with demonstrated
therapeutic interventions
- Therapeutic interventions guided
by somatic variants, such as targeted therapies, immunotherapies, hormonal therapies
etc.
. Somatic variants that occur in non-germline cells (i.e., not inherited) can have
therapeutic relevance:
- Targeted
therapies: Certain somatic variants, such as mutations in specific genes
or proteins, can be targeted with precision therapies. For example, tyrosine
kinase inhibitors (TKIs) like imatinib, which targets the BCR-ABL fusion protein
in chronic myeloid leukemia (CML), or vemurafenib, which targets the BRAF V600E
mutation in melanoma, are examples of targeted therapies that are designed to
specifically inhibit the activity of mutated proteins associated with cancer.
- Immunotherapies Somatic variants can also
influence the tumor microenvironment and immune response. Immune checkpoint
inhibitors, such as pembrolizumab and nivolumab, which block the PD-1/PD-L1
pathway, have shown efficacy in various cancers with somatic variants that
result in increased tumor mutational burden (TMB) or the presence of specific
immune-related biomarkers.
- Hormonal
therapies: Somatic variants can affect hormonal signaling pathways,
leading to targeted hormonal therapies. For example, in breast cancer somatic
variants in the estrogen receptor (ER), progesterone receptor (PR), or human
epidermal growth factor receptor 2 (HER2) genes can guide the use of hormonal
therapies such as tamoxifen, letrozole, or trastuzumab, respectively.
- Comprehensive proprietary
database of FDA approved/clinical trial drugs for
corresponding biomarkers
- Analysis of 637 germline variants
affecting drug metabolism
- Test available for all solid tumor
and hematologic malignancies
