Phosphorus introduces new tests to detect hereditary cancers

4 June 2017 (Last Updated June 4th, 2017 18:30)

US-based genomic health firm Phosphorus has introduced new genetic tests for the detection of hereditary cancers.

US-based genomic health firm Phosphorus has introduced new genetic tests for the detection of hereditary cancers.

The firm launched a high-risk panel for common cancers, a comprehensive panel for various cancer types and fully-customisable panels by specialty area for a total of approximately 114 genes associated with inherited cancers.

As the presence of a hereditary component is reported in 10-15% of cancer cases, early detection of inherited cancers is considered to be possible, and genetic testing is useful to identify people at high risk of cancer.

Phosphorus Research and Development senior vice-president Oscar Puig said: "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.

"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."

"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."

The new genetic panels feature next-generation sequencing technology and identification of copy number variants. 

Upon validation, the inherited cancer test showed 99.8% analytical sensitivity for single nucleotide variants (SNVs) and 99.6% for indels, 100% analytical specificity for both SNVs and indels, and 99.9% positive predictive value for SNVs and 100% for indels.

The new common/high-risk panel for 32 genes is designed to offer clear prophylactic and treatment options by assessing actionable and widely recognised genes across multiple types of cancer.

The Pan-Cancer Panel for 114 genes evaluates a variety of genes across cancer types to provide a better understanding of cancer risk.

The disease-specific panels are developed for 11 types, including breast, colorectal, brain/nervous system, leukaemia, pancreatic, ovarian/uterine, renal, thyroid, melanoma, prostate and paediatric cancers.