Meet Carson and Chase. Both boys have MEPAN Syndrome, a condition that affects only 14 people in the world. Watch a video to learn about the family's six-year journey to a diagnosis, and see how genomics is helping advance disease detection and treatment for patients.
"You're trying to figure out what's going on with your sons and you try to help them in any way you can. We needed answers, so we pushed for the idea of genetic testing.”
For people coping with disease, accurate tests and effective treatment are top priorities. Genomics is one area showing promise in early detection and potential treatment, and new tests are being developed all the time. The Optum Evidence Engine is designed to help test developers ensure their tests will be safe and effective for the intended use.
The Optum Evidence Engine accelerates the generation of clinical validity and utility evidence for molecular diagnostics, helping standardize evidence requirements and speed the adoption of precision medicine in health care. Currently, emerging health care technologies such as those used in precision medicine may struggle to sufficiently demonstrate the validity of the test or the clinical utility of the intervention. Greater clarity in this area will make it easier for payers and providers to ensure patients receive the highest-quality, most effective care.
To launch the Optum Evidence Engine, Optum is collaborating with the leader in genomic sequencing technologies, Illumina, with the goal of accelerating the generation of evidence needed to unlock the promise of personalized medicine. The collaboration pairs Optum’s analytical expertise with Illumina’s genomics expertise to enhance research and identify best practices.
The Optum Evidence Engine will leverage Illumina’s capabilities and UnitedHealth Group’s research, data analytics, data science, test development expertise, and market access insights and technology to:
Illumina will work with Optum to help facilitate the evidence for precision health products for a range of intended uses, including cancer treatment selection, rare and common genetic disease risk, and drug metabolism.
“Through the Optum Evidence Engine, we are unlocking the power of personalized, precision health care to help advance disease detection and treatment for patients, and improve the overall health of communities we serve. Our collaboration with Illumina aligns with Optum’s aim to help people access the right medicine, at the right time, in the right setting, at the right cost, resulting in better health outcomes.”
Dr. Jill Hagenkord Chief Medical Officer, Optum Genomics
Additional Collaboration With Scripps
Optum also is working with Scripps Research to conduct the Prospective Electronic Polygenic Risk Study (PEPRS), an upcoming study in cardiovascular disease prevention. For coronary artery disease, studies have shown that patients with the highest genetic risk receive the biggest benefit from lipid lowering therapy compared to people with lower genetic risk even when they have the same LDL cholesterol values. The PEPRS study aims to assess how a polygenic risk score for coronary artery disease can inform lifestyle behaviors or medication decisions of patients.
Listen to the UnitedHealth Group Weekly Dose Podcast as Dr. Jill Hagenkord of Optum Genomics discusses a potential new advancement in the field of genomics.