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EXaCT-1 (Whole Exome Sequencing)

Whole Exome Sequencing by Next Generation Sequencing (NGS) has emerged as an efficient strategy to selectively sequence the coding regions of the genome as a more-cost effective alternative to whole genome sequencing.  The complete cancer cell-specific mutation profile will provide information about biomarkers which matches currently FDA-approved target therapies and all active clinical trials, but also provide other cancer genome properties which will help doctors choose more efficient and personalized treatment regimes, including immunotherapy, check point inhibitor therapy and gene therapy.

Unlike focused tests, typically called panel sequencing, the EXaCT-1 assay takes an unbiased, exploratory look at more than 22,000 genes in both healthy and malignant cells, allowing molecular pathologists to find alterations in the cancer-development process in unexpected regions of the exome. This type of test, known as whole exome sequencing, can be effective in advanced-stage patients for whom other treatments have failed because it reveals mutations that less comprehensive tests may not uncover. In practice, this means, for example, that a patient with bladder cancer whom EXaCT-1 shows to share a mutation associated with breast cancer might benefit from a drug typically prescribed to fight the latter type of tumor.

EXaCT-1 Fact Sheet
EXaCT-1 FAQ
EXaCT-1 Utilization Guidelines

 

Solid Tumor Malignancies

Specimen Requirements

EXaCT-1 (Whole Exome Sequencing) requires both a tumor sample AND matched normal sample. In the majority of cases, a blood draw will be scheduled and sent to the lab however in some patients a different type of non tumorous sample, such as buccal swab, may be required.

Tumor Requirements: 20 Unstained slides and 1 H&E. The minimum amount of neoplastic cellularity should be at least 20%

Blood Requirements: 2-3ml of Whole Blood in EDTA
 

Hematologic Malignancies including: Leukemias, Myelodysplastic Syndromes, Myeloproliferative Neoplasms, Lymphomas and Multiple Myeloma

Sample Requirements

FFPE: 20 Unstained slides and 1 H&E Recut Slide
or
Peripheral Blood: 2-5ml collected in one EDTA tube (lavender top)
or
Bone Marrow Aspirate: 2-5 collected in one EDTA tube (lavender top)

*Tumor content should be > than 20% and diagnosis should be confirmed by Immunopathology laboratory.

**Note: A buccal swab must be collected and sent to the Clinical Genomics Laboratory to be used as the matched normal sample.
 

Ordering the Test

Oncologist are currently able to order this test through EPIC. Blood will be drawn and the pathology department will select the most suitable tumor specimen and send it to the EXaCT-1 laboratory for processing. If collecting buccal swabs, please notify the laboratory in advance.

Disclaimer

EXaCT-1 was developed and its performance characteristics was determined by the Englander Institute for Precision Medicine/New York Hospital Laboratories. This method has not been cleared by the Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. EXaCT-1 may be used for clinical purpose and should not be regarded as experimental or research only.

The lack of a given genetic alteration in this report does not necessarily indicate the absence of the alteration in the tumor since technical aspects of the assay, including inadequate coverage of some genes, limit the data that can be acquired in some genetic regions. Alterations that occur in the germline are not reported. If a possible pathogenic germline mutation (inherited) is suspected, then counseling by a board certified genetic counselor will be recommended in note.

Weill Cornell Medicine Pathology & Laboratory Medicine 1300 York Avenue New York, NY 10065 Phone: (212) 746-6464 Fax: (212) 746-8192