Q A

For Patients

Genes are DNA sequences that carry hereditary information. This information defines the traits of a cell and is necessary to maintain normal cell functions. Humans have approximately 20,000 genes.
A gene mutation is a permanent change in the sequence of chemical bases in a cell’s DNA. Mutations occur frequently in the human body. Some mutations are not harmful, but other mutations may cause the proteins encoded by the gene to function incorrectly or not at all. This, in turn, prevents the cell from working properly and can cause diseases such as cancer.
Among the 20,000 human genes, about 300-400 are related to cancer. If a mutation occurs in one of those genes, this may cause an uncontrolled growth of the affected cell by a dysregulation of the cell growth signaling pathway in which the mutated gene plays a role. Since patients have their own individual mutation patterns affecting different genes and pathways, targeted therapy only works for patients in which the targeted pathways are altered.
Precision medicine analyzes mutations in cancer-related genes to find out what drives your cancer, enabling the identification of targeted therapies that directly interfere with tumor growth. Because gene mutations are different for individual patients, you are more likely to benefit from therapies that are tailored for your cancer.
The mutations in cancer-related genes are identified by an analysis of tumor samples using a high-throughput method called next-generation sequencing (NGS). This method allows a rapid and comprehensive gene analysis. Through bioinformatics data processing and utilizing clinical databases, gene mutations are matched with the appropriate targeted therapies to provide patients and doctors with personalized treatment options.

For Medical Professionals

Yes. For many patients, we are able to identify genetic alterations which are associated with sensitivity or resistance to chemotherapy or endocrine therapies. This information is included in our clinical reports.
Liquid biopsies are best suited to monitor a patient’s tumor burden. Certain genetic alterations that are associated with therapy sensitivity and resistance can also be detected, and this information can provide therapeutic guidance for some patients. However, due to the low tumor DNA proportion in the blood, much information about genetic alterations in a patient’s tumor are lost in liquid biopsies compared to tumor samples. The gene number and exon coverage are limited in those assays, and the detection of copy number alterations remains difficult. For an evaluation of therapeutic choices, tumor samples should be used if available.
Traditional cancer treatment does not consider results of comprehensive genetic testing. However, scientific and clinical evidence show that guiding therapeutic choices by genetic testing greatly increases the proportion of patients who benefit from the treatment, leading to improved clinical outcomes. Note: There is substantial evidence that precision medicine is improving clinical outcomes for cancer patients. For example, the University of Texas MD Anderson Cancer Center and the University of California, San Diego published data from clinical studies demonstrating that therapy selection based on the results of genetic testing can improve overall survival. Furthermore, the National Cancer Institute (NCI) and the American Society of Clinical Oncology (ASCO) are currently conducting large precision medicine clinical trials to demonstrate that precision medicine leads to improved clinical outcomes.
We will discuss therapeutic options with treating physicians based on data such as gene mutation frequency, affected cancer signaling pathways and the patient’s cancer type. We also provide information about the results of related clinical trials to help with the evaluation of therapeutic choices.
The test ACTOnco®+ provides comprehensive testing including more than 400 cancer-related genes and can be used for all solid tumor types. Similarly, the panel ACTMonitor™ can be used to monitor the tumor burden of patients with solid tumors. Some other panels or subpanels, such as ACTDrug®+, ACTBRCATM and cancer type specific ACTMonitor™ subpanels, are designed for patients with certain cancer types.

For Our Services

ACTDrug®+ is designed to perform genomic profiling for 35 actionable genes; these genes have targeted drugs available.
Results include the genomic alternations identified in your specimen and corresponding FDA-approved treatment options. This information enables your doctor to make a tailored-treatment plan for you.
Patients diagnosed with solid tumor whothat prefer to select targeted drugs as one of their cancer treatment alternatives.
Especially those in advanced stages of breast cancer, lung cancer and colorectal cancer.
ACTOnco® + is developed for comprehensive genomic profiling of solid tumor, which covers all coding regions of more than 400 genes.
ACTOnco® + also includes additional cancer-specific tests, like MSI for colorectal cancer patient and fusion gene assays for lung cancer patient.
With the unique, comprehensive mutation profile retrieved from your solid tumor tissue, and cellular signaling pathway-based interpretation results, your doctor can make a better personalized treatment plan for you.
ACTOnco® + reports not only provides the mutation-matched therapeutic recommendations but also information regarding ongoing clinical trials.
Patients with extended treatment history, recurrence or metastatic cancer and patients who have developed resistance to existing treatment.
BRCA1 and BRCA2 are genes involved in DNA repair and they prevent tumor growth. ACTBRCA™ is a test that detects genetic alterations in BRCA1 and BRCA2.
These alterations provide information about therapeutic options and also the risk of developing certain cancer types or cancer recurrence. BRCA1 and BRCA2 somatic mutations could be identified in 3 – 9% of the unselected ovarian cancer specimen(Note 1) and 3% of breast cancer specimen(Note 2). Studies have shown that BRCA mutations are significant predictors for the efficacy of targeted therapy in breast and ovarian cancers (Note 3).
It is also known that inherited BRCA mutation carriers are at a higher risk of developing breast cancer (54-85%), ovarian cancer (40-60%), prostate cancer (20%),
and pancreatic cancer (5%) (Note4)

Note1. Hennessy et al., J Clin Oncol., 28:3570-3576 (2010)
Note2. Nik-Zainal et al., Nature, 534:47-54 (2016)
Note3. Zong et al., Clin Cancer Res., 21:211-220 (2015)
Note4. Garber JE., (Update on screening and surveillance in BRCA1/2 carriers) 2015 ASCO Annual Meeting
For patients diagnosed with breast, ovarian, prostate and pancreatic cancer at younger age (<45yrs), and/or individuals with familial history of the cancer types mentioned above.
For ACTDrug® +, ACTOnco® + and ACTBRCA™ tests, tumor sample is required. ACTBRCA™ requires both tumor sample biopsy and 8-10 ml of whole blood. The blood is required for ACTBRCA™ test to validate if the mutation identified in tumor sample is a germline mutation. For more details, please refer to the Specimen Preparation Instructions.
ACTMonitor™ is an ultrasensitive, non-invasive, blood-based mutation profiling panel designed for detecting circulating tumor DNA (ctDNA) and monitoring treatment response and disease relapse. The ACTMonitor™+ panel covers 50 genes that are frequently mutated during tumorigenesis. Furthermore, there are sub-panels developed for breast, lung, colon and gastric cancer.
Circulating tumor DNA (ctDNA), arestrains of tumor DNA that circulates freely in the cancer patient’s bloodstream. ctDNA can be distinguished from the DNA released from normal cells by the presence of tumor-specific mutations. Moreover, the half-life of circulating ctDNA is short (<2hrs in bloodstream), and for this reason, ctDNA levels change dynamically with the development of tumor, as the best biomarkers for disease monitoring.
For patients who want to monitor their disease regularly and in a non-invasive way. When tissue biopsy is inadequate or re-biopsy is unfeasible, ACTMonitor™ can offer an alternative way to obtain the genomic alteration profile of your tumor.
Two tubes of whole blood are required. For more details, please refer to Specimen Preparation Instructions.
Patients who showed negative ctDNA may due to the facts that: (1) the disease is well-controlled; (2) the tumor mass is small therefore the ctDNA is undetectable; (3) the genomic variant carried by the patients are not included in the panel.
ACTImmune™ is a test that informs you about your likelihood of benefitting from immunotherapy by checkpoint inhibitors. Recently, several studies have suggested that immunotherapy using immune checkpoint inhibitors which can restore or enhance immune response against tumor cells, showed a long-standing response in patients with different cancer types, including melanoma, lung cancer, and bladder cancer.
However, only 25-30% of patients are likely to benefit from the treatment. As the cost of Immune checkpoint inhibitors is very high, it is critical to have an accurate method to predict the response to these drugs. Studies have revealed that tumor with a higher mutational burden and increased number of tumor-specific protein (neoantigens) expressed on tumor cell surface can provide a more accurate prediction of responses to immunotherapy(Note1,2)
ACTImmune™ covers over 18,000 genes to determine mutational burden and the binding affinities between the neoantigens and the Major Histocompatibility Complex (MHC), which is essential for the acquired immune system to recognize foreign molecules.

Note 1. Snyder et al., N Engl J Med., 371:2189-2199, (2014)
Note 2. Rizvi et al., Science, 348:124-128 (2015)
ACTImmune™ is developed for those patients who want to use Immune Checkpoint inhibitors like anti-PD-L1 and anti-CTLA-4 for their cancer treatment.
ACTDrug®+ / ACTOnco®+ are target-based genomic profiling tests. Although they provide comprehensive information, there is a chance that we cannot find any clinically relevant genomic variants for your therapeutic decision; because of the complex nature of
Two tubes of whole blood are required. For more details, please refer to Specimen Preparation Instructions.
In some countries, genetic assays may be covered by certain private insurance companies. Please consult your insurance agent for detailed information.
Your physician will receive a report 14 calendar days after ACT Genomics receivesd your sample for ACTDrug® +/ACTOnco®+/ACTBRCA™/ACTMonitor™. For ACTImmune™ test, it will take 30 calendar days.