By Justin Farris

Phosphorus Launches Diagnostic Genetic Tests for Hereditary Cancers

The tests are designed to provide clarity on lifetime risk and drastically improve survival rates across cancer types.

Phosphorus, a genomic health company offering diagnostic genetic tests and clinical software, announced Friday the release of advanced tests for hereditary cancers. The tests include a high-risk panel for common cancers, a comprehensive panel spanning multiple cancer types, and fully-customizable panels by specialty area covering up to 114 total genes associated with inherited cancers. The panels were launched at the American Society of Clinical Oncology Annual Meeting in Chicago, Illinois this weekend.

Genetic testing is a powerful tool for identification of individuals who are at increased risk for developing cancer. 10-15% of cancer cases have a hereditary component, meaning that risk of inherited cancer can be caught and managed before an advanced stage.1 1 in 3 people in the U.S. is affected by cancer in their lifetime, and genetic testing can provide the answers necessary to save lives.2 Survival rate after diagnosis of breast cancer is 98% when diagnosed at an early stage compared to 25% for late-stage diagnoses. For colon cancer, survival rate is 98% when diagnosed early compared to 13% for late-stage diagnoses.3

“Genetic testing is important for assessing cancer risk, improving cancer survival rates, and planning management of high-risk patients, including steps such as increased surveillance and targeted medication,” explained Oscar Puig, Senior Vice President of R&D at Phosphorus. “Additionally, genetic testing of family members of high-risk patients is useful for identifying additional high-risk individuals so they can take necessary proactive steps earlier, before advanced stages of cancer.”

Phosphorus’s expert-curated panels, powerful data analytics, and rigorous variant interpretations have been designed and developed to ensure the most accurate results for patients. The tests are powered by next-generation sequencing technology, including comprehensive detection of copy number variants. Validation of the inherited cancer test yielded 99.8% analytical sensitivity for single nucleotide variants (SNVs) and 99.6% for indels. Analytical specificity is 100% for SNVs and indels alike, while positive predictive value is 99.9% for SNVs and 100% for indels.

“Genetic testing for cancer can offer substantial benefits to patients and families. Often, diagnosis is made at an advanced stage, when prognosis is less favorable,” said Alexander Bisignano, co-founder and CEO of Phosphorus. “Our tests can save lives by identifying cancer risk early.”

The newly-launched genetic tests are organized into the following panels:

  • Common/High-Risk Panel: 32 genes. Examines the most actionable and widely-recognized genes across cancer types to provide clear prophylactic and treatment options.
  • Pan Cancer Panel: 114 genes. Examines a broad range of genes across cancer types to give broader insight into cancer risk.
  • Disease-specific panels: Includes 11 total specialties including breast, colorectal, brain/nervous system, leukemia, pancreatic, ovarian/uterine, renal, thyroid, melanoma, prostate, and pediatric cancers.

Learn more about Phosphorus’s tests at www.phosphorus.com.

About Phosphorus

Phosphorus is a genomic health company with the vision to create a world where every healthcare decision is optimized with genomics. Headquartered in New York City, Phosphorus offers clinical genetic tests in a range of clinical areas from its CLIA-certified laboratory. The company also develops powerful software that enables labs around the world to deliver the most advanced genetic tests. Phosphorus’s active research and development program has an initial focus on decoding the genetic causes of infertility and inherited cardiovascular disease. With a team of experts in computational biology and computer science, Phosphorus is building a data network that will help providers, researchers and patients around the world better understand and harness the power of the human genome. For more information visit: www.phosphorus.com and @phosphorus.


1Tung, N. et al. (2015). Cancer, Vol. 121, Issue 1
2SEER Cancer Statistics Review, 1975-2012: Lifetime Risk Tables. http://surveillance.cancer.gov/devcan
3SEER Cancer Statistics Review website.

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