Cancer
Risk score for personalised breast cancer risk assessment launched

An integrated polygenic risk score (iPRS) for personalised breast cancer risk assessment has been launched which reports five-year and lifetime breast cancer risk, offers individuals who receive a negative test result.
The risk assessment has been launched by cell-free DNA and genetic testing company Natera and clinical whole genome analysis and polygenic risk modelling company MyOme.
The launch is supported by a validation study of over 130,000 women which demonstrated that MyOme’s cross-ancestry, integrated polygenic risk score significantly improved breast cancer risk prediction over the common clinical measurement, Tyrer-Cuzick (T-C) alone.
In the study, up to 8 per cent of women had their T-C lifetime risk of breast cancer reclassified with iPRS, allowing for more informed cancer risk management decisions.
Polygenic risk scores account for the combined impact of different variants in an individual’s genome rather than those in just a single gene. While many polygenic risk scores analyse specific genes or a limited number of variants, iPRS integrates the effect of >1 million single nucleotide polymorphisms (SNPs) from whole genome sequencing with T-C clinical inputs from a patient’s health history to provide a more holistic risk assessment based on genetic ancestry rather than self-reported ancestry alone.
An estimated one in eight women in the United States will be diagnosed with breast cancer in their lifetime. Early detection and treatment are crucial for improving outcomes. iPRS can provide a more personalized risk assessment for the up to 95 per cent of women who do not have a known pathogenic variant associated with breast cancer.
By identifying individuals at higher risk, healthcare providers can implement proactive screening, including annual breast MRIs and earlier or more frequent mammograms.
“We are excited to partner with MyOme to further enhance the clinical value of Empower and deliver comprehensive insights about breast cancer risk to women and their healthcare providers,” said Ramesh Hariharan, general manager of Women’s Health at Natera.
“iPRS addresses a critical need for a cross-ancestry polygenic risk score based on genetic, rather than self-reported, ancestry.”
“We are thrilled to collaborate with Natera to advance MyOme’s vision of predictive healthcare that integrates clinical data with whole genome analysis to develop accurate and personalised risk scores for diseases,” said Akash Kumar, chief medical and science officer at MyOme.
“Our integrated PRS score – the first of many clinically impactful models that will change proactive health – has been thoroughly validated across ancestries and provides a highly accurate risk assessment that enables physicians to construct a personalised screening program to help detect breast cancer in its earliest, most treatable stages.
“The launch of iPRS marks the beginning of a new age in predictive modelling and proactive health, addressing the vast majority of people who do not have severe genetic mutations and are not currently sick.”
iPRS is available to patients between 18 and 85 years of age who have no personal history of breast cancer and no mutations in a breast cancer-related gene.
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