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Precision Medicine

Sema4 is a patient-centered health company that has begun looking at a new paradigm for healthcare. By using data from medical records, researchers can look at the underlying causes of disease, and develop accurate diagnostics identifying for identifying and preventing them as well giving individualized treatment for patients. Sema4 states that the current healthcare system for large hospitals and physician networks cannot provide this type of patient treatment yet. But, over the last few years Mount Sinai Health System in New York, has founded several groups that are advancing this field of precision medicine. The Institute for Next Generation Healthcare, Lab100 and Sema4 are among the groups started by Mount Sinai to research in this new field of medicine. By accessing new capabilities in gene sequencing, bioinformatics, pharmacogenetics, and RNA analysis, researchers at Mount Sinai are working with different groups and departments to bring healthcare into the future.

Bringing together scientists, data engineers, and clinicians, Sema4 is working to refine precision medicine. In 2015, researchers there carried out the first study to sequence the human diploid genome using sequencing technologies. They also developed one of the first holistic molecular models for Alzheimer’s disease, demonstrating the interactions of genes and environmental factors and giving insight into possible gene therapies for the disease. In August 2018, a different group at Sema4 developed two new reproductive testes using the Sema4 Health Intelligence Platform ( SHIP). These noninvasive prenatal tests can screen for genetic disorders that can cause developmental delays, like Prader-Willi and Angelman syndromes, and detecting rates for such genes as CYP21A2( which causes adrenal disorders) and GBA ( mutations which cause liver disorders, bone pain, and anemia).

Doctors and researchers know that an inter-disciplinary approach is what will be needed across the seven Mount Sinai hospitals and the Icahn School of Medicine. Creating such things as DAPHNE, a software program that can decipher the RNA of multiple myeloma cancer cells, and developing machine learning algorithms that analyze large-scale molecular datasets, these groups are heading for the new frontier of healthcare. It is a future that will depend on accessing genetic and personalized information. With this information on a patient’s genes, environmental factors and medical history, generational healthcare can be developed for a patient and their children, and their future family.