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.
How the Optum Evidence Engine Works
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.
The Optum Evidence Engine’s First Project
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.
Why It Matters
Learn how the use of genomics in health care is helping to advance disease detection and treatment for patients.
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After six years of searching, Danny and Nikki Miller learned their two boys, Carson and Chase, both have MEPAN Syndrome, a condition that affects only 14 people in the world. The condition was discovered when the boys were enrolled in the Undiagnosed Diseases Network where whole gene sequencing uncovered the mutations that cause MEPAN. Armed with a definitive diagnosis, the family now has the information needed to help them manage the condition going forward.
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The eight-year journey to a diagnosis ended for Ben and Hillary Jeppsen’s son, Sawyer, when the family was approved to participate in the Undiagnosed Diseases Network. The UDN ran whole gene sequencing on Sawyer and his parents, which identified a mutation in his TRIP12 gene. The diagnosis allowed the family to move forward, find a support network, and ultimately improved Sawyer’s quality of life.
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After six years in remission, Michelle Mindlin’s ovarian cancer returned in 2016. She bravely fought the cancer with chemotherapy, which permanently damaged her hearing. Her doctor then suggested clinical trials. She underwent genetic testing for her tumor and enrolled in a clinical trial that initially worked well, however, she eventually stopped responding to the treatment. She is now searching for a new trial to continue her fight.
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When AJ Patel was diagnosed with lung cancer, he was told he had six months to live. He experienced debilitating fear and excruciating treatments, and then a referral to biomarker testing changed his cancer journey. Now an eight-year cancer survivor, his story highlights the importance of driving a new standard of care, and the reality of comprehensive genomic profiling in the clinical setting.
“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
Explore More
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.
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