Allelica, a leading genomics software company that provides digital tools for the development, validation, and calculation of ancestry-specific polygenic risk scores (PRSs), announced that PRS analysis is now available as a laboratory-developed test (LDT) for healthcare providers looking to improve health outcomes.
The test is made possible through a partnership with Clinical Enterprise Inc., a CLIA-certified, CAP-accredited laboratory located in Framingham, Mass.
Brigham and Women’s Hospital is among the first healthcare facilities to make the test available through its Preventive Genomics Clinic, where PRS is being used, along with comprehensive whole-genome sequencing, to provide patients with personal disease risk factors.
“Polygenic risk scores are an exciting new tool to identify individuals at increased risk for common complex disorders like heart disease, diabetes, and common forms of cancer,” says Robert Green, a medical geneticist and professor of medicine at Brigham and Women’s Hospital, Ariadne Labs and Harvard Medical School, who is a scientific advisor to the company. “Identifying those at highest risk means that surveillance and intervention can be focused earlier and have a greater impact, moving us closer to proactive and preventive health care, rather than reactive sick care.”
Allelica’s new, ancestry-specific PRS tests are available as a physician-ordered test and set new standards for accessibility, accuracy, and cost. The tests use a patient’s saliva as a DNA sample for genotyping analysis carried out by Clinical Enterprise. The analysis leverages genome-wide microarray technology that takes into account hundreds of thousands of genetic variants and offers significant cost savings compared to whole-genome sequencing.
The output of the microarray analysis is input into the Allelica platform, which applies proprietary algorithms to calculate an ancestry-specific PRS and generate clinical-grade reports. Allelica PRS algorithms have been developed and validated in multiple prospective datasets that include individuals of all continental ancestries. The reports, which are also available as a white-label package, are delivered to providers through a secure portal or through integration with electronic medical records.
Available immediately are tests for coronary artery disease, breast cancer, prostate cancer, Type 2 Diabetes, and Alzheimer’s disease. They can be ordered as standalone tests for a single PRS or as panels with multiple PRSs. Allelica plans to expand testing to include more diseases across cardiology, oncology, and women’s health.
Giordano Bottà, CEO of Allelica, sees the announcement as an important milestone for genomic medicine because it integrates polygenic risk score analysis and reporting into the clinical workflow in a responsible and equitable way.
“Prior PRS scores were limited by utilizing databases of largely or exclusively European ancestry. Our priority was to develop a PRS that can benefit everyone, regardless of their ancestries. By providing clinical-grade polygenic risk score testing to people of all ancestries in an accessible and scalable way, we are empowering healthcare professionals to revolutionize healthcare by applying the next generation of clinical genomics,” he says.