Who is the Test For?

The test is intended for individuals who are at high-risk to develop pancreatic cancer. There’s currently 40 ICD Codes that providers can choose from when ordering this test for their patients.

In general, categories of high-risk individuals include:

  • – Genetic or familial risk, including those with known genetic variants or family history of cancer
  • – Unexpected weight loss or prolonged abdominal pain, nausea, or
  • – Chronic, acute, or familial pancreatitis or other perplexing GI conditions
  • – Diagnosis of new onset diabetes without complications (Type 2)
  • – High levels of CA19-9
  • – Presence of pancreatic neoplasms including Intraductal Papillary Mucinous Neoplasms (IPMNs) and Mucinous cystic neoplasms (MCNs)
  • – Inconclusive MRI or EUS Scans of the pancreas
  • – Exposure to toxic chemicals and heavy metals including benzene, asbestos, pesticides, and chlorinated hydrocarbons

Professional Recommendations

– The American Gastroenterological Association currently defines an individual as high risk if they have an estimated lifetime risk to develop pancreatic cancer that is over 5%. This is nearly 4 times the risk for the general population estimated at 1.3%.

– The table on the left summarizes screening recommendations for genetic risks for pancreatic cancer included in the AGA and NCCN Guidelines.

– Individuals with the BRCA2 mutation are considered to be the most common identifiable risk genetic risk factors for pancreatic cancer

– ** Initiation of screening at age 50 years or 10 years younger than the initial age of a 1-degree family member diagnosed with pancreatic cancer has been suggested in the guidelines of the American College of Gastroenterology and pursued in screening programs at Centers of Excellent

– New-onset Diabetes (Diabetes Millitus)

– New-onset diabetes has been recognized to be associated with the development of pancreas cancer in a small proportion of patients, typically preceding cancer diagnosis by 36 months. New-onset diabetes mellitus in an individual older than 50 years with a history of smoking or weight loss is estimated to have an 8-fold increased in relative risk of developing pancreas cancer at a mean age of 71 years. New- onset diabetes in a high-risk individual should lead to additional diagnostic studies or shortening of the surveillance interval.

Test Details and Performance

The BT-Reveal Early Pancreatic Cancer Test works by looking for certain sets of DNA Methylation Haplotypes that are linked across the genomes of tumor DNA molecules that circulate in the blood. These unique signals are specific to pancreatic cancer and may be present well before the person experiences any symptoms of the cancer.

The test is built to achieve single base resolution by using the propriety MethylTitan bi-sulfate DNA sequencing approach that maximizes the number of tumor fragments that the test is able to sample from a 10ml tube of blood. Combined with an innovative bio-informatic analysis, the test interrogates 59 DNA Methylation Haplotype regions that have been clinically-validated for pancreatic cancer early detection. These tell-tale pancreatic cancer markers can be detected across both early and late stage PDAC cancer and also across diverse sample sets.

What are DNA Methylation Haplotypes?

DNA Methylation is an essential part of the field of epigenetics which examines how DNA molecules are turned on and off to regulate cellular processes in the body. At certain sites within the DNA chain, methyl groups are added to the DNA molecule (these areas are known as CpG sites) to alter the activity and gene expression of an underlying DNA segment without electing the underlying sequence. Methylation has been shown to silence genes by blocking the initiation of transcription, to stimulate transcription elongation, and to influence splicing and other DNA regulatory function.

There’s growing evidence that cancer cells in particular exhibit noticeably different patterns of DNA methylation than healthy cells. In addition, specific types of methylated chains of DNA (known as DNA haplotypes) are unique to individual cancers and are more accurate than single site DNA Methylation markers (Guo et al, Nature Genetics 2017). Utilizing DNA Methylation Haplotypes to detect for early cancer is a patented technology that has been demonstrated to have a high predictive value for a number of different cancers including colon, breast, renal, and pancreatic cancer (Chen et al, Nature Communications, 2020).


Please note: The peer-reviewed publications included below discuss the underlying technology used in the development of the BT-Review Early Pancreatic Cancer Test, but do not reflect the specific performance metrics of the test or the initial clinical data that was submitted to the FDA as part of the test’s designation as a ‘Breakthrough Device’.

The BT-Reveal Early Pancreatic Cancer Test is exclusively available through
BREAKTHROUGH GENOMICS. The company provides genetic tests for rare disease
diagnosis and early cancer detection at its CAP and CLIA-certified,
advanced clinical lab in Southern California.

If you have questions or would like more information please email us:

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The BT-Reveal Early Pancreatic Cancer Test is intended for use as a screening tool for at-risk individuals. A positive result does not guarantee the individual has cancer. For all positive results, additional follow-up imaging and other confirmatory tests are recommended. Common follow up testing includes CT Scans, MRI’s, Endoscopic Ultrasounds, or ERCP tests.

Breakthrough Genomics’s clinical laboratory in Irvine, California is certified in the U.S. under the Clinical Laboratory Improvements Amendments (CLIA) and by the College of American Pathologists (CAP) to perform high complexity clinical genomic tests. The BT-Reveal Early Pancreatic Cancer Test only requires a 10ml tube of blood that can be stored and transported at room temperature. The test is currently being offered as a Laboratory Developed Test (LDT) and as such surpasses the lab’s requirements needed to be able to safely provide the test to at-risk individuals.

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