Advancing precision oncology with large, real-world genomics and treatment outcomes data.
et al. Nature medicine 2022 7
Analysis of genomics data and medical records of over 40,000 patients with cancer identifies hundreds of mutations that are predictive of how well patients respond to specific cancer therapies. These predictive biomarkers could inform personalized treatment planning.
Precision Medicine in Diabetes, Current Research and Future Perspectives
R Franceschi, J Per Medicine, July 28, 2022
Recently the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD) have jointly released an expert opinion-based consensus report on precision medicine. The report defines precision diabetes medicine as “an approach to optimize the diagnosis, prediction, prevention, or treatment of diabetes by integrating multidimensional data, accounting for individual differences”, and it is characterized by six categories; precision diagnosis, precision therapeutics, precision prevention, precision treatment, precision prognosis and precision monitoring. Precision medicine in diabetes utilizes the individual’s unique genetic makeup, environment or context data (that can be collected from clinical records, wearable technology, genomics and other ‘omics data) and allows one to appreciate individual characteristics, differences, circumstances and preferences
Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction.
Jones Laney K et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003549
We conducted a retrospective cohort study of MyCode participants with an FH risk variant beginning 2 years before disclosure until January 16, 2019. We analyzed lipid-lowering prescriptions (clinician behavior), medication adherence (participant behavior), and LDL (low-density lipoprotein) cholesterol levels (health outcome impact) pre- and post-disclosure. Data were collected from electronic health records and claims. Despite disclosure of an FH risk variant, nonprescribing and nonadherence to lipid-lowering therapy remained high. However, when clinicians intensified medication regimens and participants adhered to medications, lipid levels decreased.
The promise of precision medicine in rheumatology
JM Guthridge et al, Nature Medicine, July 4, 2022
Current strategies include treat-to-target therapies and autoantibody testing for patient stratification; however, these are far from optimal. Recent innovations in high-throughput ‘omic’ technologies are now enabling comprehensive profiling at multiple levels, helping to identify subgroups of patients who may taper off potentially toxic medications or better respond to current molecular targeted therapies.