Capture and Manage Your Health Data

Ambry Genetics

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One of largest cancer genomic database. Known as the industry standard for reputable, reliable, quality care. Must consult a physician and have them order your genomic test. Usually 2-week turnaround from when the sample is received. Accepts all insurance plans (including medicare), however not in-network providers with all insurance plans. One of few tests approved by Medicare.

For private plans, it is handled on a case-by-case basis and it is recommended to call your insurance provider. Payment plans and some financial assistance from Foundation Medicine are available for those uninsured or the out-of-pocket cost. They also have great customer care by phone to answer any questions.

Three tests:

FoundationOne CDx and FoundationOne Liquid are both for all solid tumor cancers and test for microsatellite instability (MSI). They are used to help identify targeted therapy, immunotherapy, and clinical trial options. CDx is FDA-approved, performed on tumor tissue, includes 324 genes and biomarkers, and tests for TMB in addition to MSI. Overall, it is a more comprehensive test. The liquid option is performed on blood (a liquid biopsy) and includes more than 70 genes and biomarkers. FoundationOne Heme is for blood cancers like leukemia and lymphoma, and sarcomas. It is performed on blood, bone marrow, or tissue and helps identify targeted therapy, immunotherapy, and clinical trial options. It includes more than 400 genes and biomarkers. 

Exact Sciences (previously known as Genomic Health)

4 OncotypeDX tests: All OncotypeDX tests are aimed at quantifying risk of recurrence in next 10 years. OncotypeDX breast recurrence score Molecular diagnosis test through examining activity of 21 genes in the tumor tissue. Then fed to a formula that gives a Recurrence Score (likeliness to recur likelihood that you will benefit from chemotherapy). OncotypeDX performed on small amount of the tissue removed during your original surgery. More than 900,000 Oncotype breast cancer tests since 2004. Validated in independent studies involving over 4000 breast cancer patients. OncotypeDX breast DCIS score Genomic test for patients with DCIS. Performed on a tumor after a biopsy or surgery, the test looks at 12 cancer-related genes in the tumor. Score gives prediction of 10year risk of any local recurrence (DCIS or invasive carcinoma), established baseline for consideration of absolution benefit from radiation therapy, and a quantitative ER and PR single gene expression values. OncotypeDX Genomic Prostate score Provides GPS that corresponds to biologic aggressiveness of the tumor. Measures biology through expression of 17 genes. Predicts likelihood of adverse pathology, prostate cancer death, and metastasis at 10 years. OncotypeDX colon recurrence score Quantity risk of recurrence of patients with anatomic stage 2, NMR-P and stage 3 A/B colon cancers. 12-gene genomic test (7 cancer related and 5 reference genes).

Helix

Offers DNA, ancestry, and wellness analysis kits. “Heart Start” uses markers in blood and DNA to offer insights to lower your risk of cardiovascular disease for $239. They also conduct genomic research in clinical and research settings.

Accounts for about 90% of worlds sequencing data. Offer a wide variety of sequencing and microarray products for cancer research. Intended for research, not direct-to-patient.

Invitae

A world leader in health care diagnosis. Overall, they offer tons of tests across dozens of fields. They offer VistaSeq Hereditary Cancer Panel which assesses genes associated with breast, gynecological, colorectal, and other hereditary cancers. Must go through provider for many of the tests (including cancer panel). They also offer more specific panels for breast, cervical, colorectal, and others.

Psomagen (previously known as Macrogen)

Provides several next generation sequencing technologies. They offer whole genome, whole exome, RNA, metagenome, epigenome, and low pass sequencing services. Starting big, whole genome sequencing to achieve maximum efficiency by analyzing the complete set of genes. Low pass sequencing is great for predicting your risk of disease and is more affordable than whole exome sequencing. They also provide whole exome sequencing, which looks at all protein-coding regions of the genome. There is RNA/transcriptome sequencing to more accurately determine gene expression. Metagenome sequencing can be through amplicon (ID microorganism diversity and find abnormal mutations) or shotgun (get a representative mixed sample of all the genes of every organism present in the sample. Mainly, it is to evaluate the diversity among microbes). Epigenome sequencing looks at tiny compounds attached to our DNA. It analyzes epigenomic errors that can control gene activity. Also provides GutBiome testing with a stool sample.

Offers genetic testing for hereditary cancer (assess your genetic cancer risk), diagnostic tests (assist in the diagnosis of disease), prognostic tests (predict the aggressiveness of disease or the likelihood of disease progression), and companion diagnostic tests (assist in the treatment of a disease). They provide a quick quiz to help determine whether a genetic test may be beneficial for you. Insurance generally covers 90% of testing costs. Myriad advertises excellent customer service and a commitment to the patient.

A GPS Cancer test that integrates whole genome (DNA) sequencing, whole transcriptome (RNA) sequencing, and quantitative proteomics. This allows for a comprehensive molecular profile of a patient’s cancer to be compiled. This includes sequencing of 20,000 genes and 200,000 RNA transcripts. This approach can help avoid inappropriate therapies.

Nebula Genomics

Whole genome sequencing available for $299. Enables the discovery of all genetic variation in every individual gene. They offer monthly, yearly, and lifetime access to their tools for additional costs. If you have already had your DNA sequences from AncestryDNA or 23andMe, Nebula offers a free DNA expansion service. They “fill in the blanks” using statistical models and algorithms. It can contain 50x more information than the original report and they cite they are the only company to offer genetic data expansion.

First, they offer a hematopathology service so your physician can choose the level of detail and investigation you need for diagnosis, prognosis, and/or therapy selection. NeoGenomics offers a broad collection of comprehensive, targeted and single gene liquid biopsy assays for solid tumor cancer and hematologic malignancies. They include InVisionFirst-Lung (mainly for advanced non-small cell lung cancer aka NSCLC), NeoLab Solid Tumor (a sequencing assay for pan-cancer), NeoLab Heme (for hematologic diseases), and PIK3CA Mutation CDx- Plasma. PIK3CA is the most commonly mutated gene in patients with HR+/HER2-advanced (aBC) or metastatic breast cancer. Clinical guidelines recommend assessing for PIK3CA mutation as part of the initial mBC workup if the patient has recurrent/Stage 4 disease.

Provider of technology for molecular diagnostics. They offer many products for genomic sequencing (isolation and sequencing for both DNA and RNA, whole genome service) and liquid biopsy. Business to consumer. Acquired by ThermoFisher in March 2020.

Quest has an extremely vast library of tests intended for most cancer diagnoses. Quest has served over 5 million people and operates out of more than 2,200 Patient Service Centers nationwide. They are a preferred lab for UnitedHealthcare and Aetna and in-network with Horizon BCBSNJ and Anthem BCBS GA (PPO). Quest Vantage tests for abnormalities in genes such as BRCVA1 and BRCA2, the most common breast cancer genes. Detecting breast cancer gene mutations allows you the chance to explore options to potentially prevent breast cancer. Tested through a blood draw. For cervical cancer, Quest offers Pap, HPV, and biopsy testing. The Pap test looks for abnormal cells on your cervix that could turn into cancer over time. When Pap and HPV are tested together, they provide better detection of pre-cancer and cancer itself and cells only need to be collected once.

They sell many cancer products and reagents but are mainly meant for research and companies to buy in large quantities. Their areas of research are immune-oncology, liquid biopsy, and solid tumor.

Veracyte

They offer 3 genomic sequencing classifiers. Afirma is intended for patients who undergo fine needle aspiration biopsies to assess a potentially cancerous thyroid but receive indeterminate results (not clearly benign or malignant). Afirma can provide additional clarity instead of immediately opting for surgery. Percepta is a next-generation test that determines the risk of lung cancer. It is used when results from bronchoscopy are inconclusive. Envisia usus RNA sequencing to improve physicians’ ability to differentiate IPF from other interstitial lung diseases without the need for invasive, risky, and costly surgery. They also provide a service for breast cancer (Prosigna). It is an assay that analyzes the activity of 50 genes (the PAM50 gene signature) to inform next steps for patients with early-stage breast cancer. All tests are covered by Medicare.

They provide whole genome sequencing with an easy to understand report of your genomic findings (including medically actionable conditions, carrier status, risk selection, drug sensitivities). If a finding of “very important” is discovered, Veritas offers a complementary 15-20 minute counseling section, otherwise a 60 minute session is available for $299. Genetic test must be ordered by a physician and the test has a 16 week turnaround time.

Viome

Health Intelligence service (human gene expression + gut microbiome tests) for $399. Measure and learn about your gut microbiome health, mitochondrial health, cellular health, biological age, immune system health, stress response. This helps guide which foods to eat and which to avoid. Gut Intelligence Test can be bought separately for $179.

XGenome's goal is to create a faster, cheaper genetic test so that a much wider population can access it. They do not have an available product.