Pharmacogenomics is the study of genetic variations that influence an individual’s response to drugs. Pharmacogenomics is the combination of pharmacology and genomics. Pharmacology is the part of science that studies how drugs work. Genomics is the study of a person’s genome including the interactions of those genes with each other and with the person’s environment. Each person responds uniquely to treatment, while one treatment approach may work well for one individual, the same approach may not be effective or may cause adverse drug effects in other patients. The implementation of pharmacogenomics may help physicians make informed treatment decisions. This may lead to better outcomes by decreasing adverse drug events and by increasing the effectiveness of drugs.
PGxOne™ Plus provides comprehensive coverage. It assays 53 genes in a single test covering 200 variants. PGxOne™ Plus utilizes the most advanced technology NGS, provides medically actionable and clinically relevant data. NGS delivers comprehensive genetic variant coverage and capable of detecting Copy Number Variations, deletions, insertions, and substitutions. It applies proprietary bioinformatics methodologies for data analysis and interpretation. The process is easy and convenient and has a fast turn-around-time.
Specific submission requirements are as follows: PGxOne™ Plus testing uses DNA isolated from buccal swabs, mouthwash/oral rinse, blood or saliva.
Buccal Swabs: Two buccal swabs are provided in the test supplies sent to the physician by Admera Health. Both swabs should be used to obtain buccal cells from the patient’s cheeks according to the instructions provided. The swabs should be placed into the collection tube as indicated.
Mouthwash/Oral Rinse: Scope mouthwash, measuring cup, and collection tube are provided to the Physician. Fill the measuring cup near the top with mouthwash. Swish vigorously for at least 15 seconds then spot all the mouthwash from your mouth to the collection tube. Repeat twice to ensure the collection tube is filled at least to the 40ml lines.
Blood: DNA blood tube is provided to the Physician. Draw at least 2mls of blood in lavender top vacutainer, which contains EDTA as an anticoagulant. Immediately invert the tube 8 to 10 times to ensure mixing and anticoagulation of the samples.
Saliva: One saliva collection supply is provided to the physician. The tube must be filled with saliva to the black wavy line as detailed in the provided instructions. Following collection, tighten the cap and shake the tube for at least five seconds to ensure proper mixing of the saliva with the stabilizing solutions.
Admera Health’s oncology tumor profiling tests sequence multiple genes or specific locations on genes at one time to determine the presence of known cancer-causing mutations, including single nucleotide variants, insertions and deletions, copy number variants, and fusions. Most other testing modalities are not comprehensive, interrogating for only one gene or protein, and are not able to detect the presence of multiple mutation types.
OncoGxOne™, is Admera’s most comprehensive clinical tumor profiling Next Generation Sequencing panel available, including 56 genes linked to cancer.
OncoGxSelect™ is a narrower Next Generation Sequencing panel that is designed to align with nationally established cancer guidelines.
LiguidGx™ is also used to detect cancer-driving mutations but from a blood sample. Two testing modalities are available, a proprietary qPCR method and a Next Generation Sequencing panel based on need/preference.
Admera’s tumor profiling tests can detect the presence of known mutations for patients that have been diagnosed with cancer, specifically solid tumors. With this knowledge, Admera can provide recommendations on which targeted therapies are likely to be beneficial and which ones are not. Relevant clinical trial information based on geography will also be provided (five clinical trials/mutation found). In some cases, in addition to targeted therapy recommendations, prognosis information related to the mutation/s detected is available.
For solid tumor profiling from tissue (OncoGxOne™ & OncoGxSelect™), the preferred sample type is Formalin-Fixed, Paraffin-Embedded (FFPE) Slides including Core Needle Biopsies and Fine-Needle Aspirates. The optimal tissue contains >= 1 mm3 tissue e.g., >= 25 mm2 surface area x 40 µm depth on 8 to 10 unstained slides. For smaller/impure samples, additional unstained slides might be required. If the patient has been treated with a targeted therapy, post-therapy sample MUST be submitted when available.
Fragments of DNA, called cell-free DNA (cfDNA), circulate freely in the blood. ctDNA (circulating tumor DNA) is a type of cfDNA that has been shed of off tumors into the bloodstream. ctDNA can be used to detect known mutations associated with some types of cancer. LiquidGx™ also detects ctRNA for fusion detection.
Genetic testing can aid in the risk assessment, differential diagnosis, and guide treatment decisions for patients with cardiovascular diseases and conditions. Patients are good candidates for genetic testing if they have a close family relative who has had a cardiovascular condition. Familial testing is recommended for screening of first-degree family members of those who have been diagnosed with a disease-causing mutation or where a sudden cardiac death has occurred.
Saliva: One saliva collection device and associated return packaging are provided to the physician. The tube must be filled with saliva to the line as detailed in the provided instructions. Following collection, remove the cap from the dropper bottle, and empty the contents into the saliva collection device. Unscrew the funnel from the sample tube and discard. Be careful not to spill any of the liquid. Screw the tube cap onto the sample tube until it is tightly sealed and mix gently by inverting the sample tube 5 to 7 times.
Blood: A lavender top vacutainer tube containing ETDA is used to collect up to 5mls of blood. Following collection, invert the sample tube 8 to 10 times to ensure proper mixing. Please note blood samples should be shipped with the enclosed cold pack.
Alternatively, Admera Health has partnered with a logistics company that tracks supply volume via barcode scanning and will automatically replenish inventory once 70% of the supplies have been utilized.