Two decades ago, scientists and leaders in personalized medicine testified before Congress about its immense promise in terms of diagnosing and treating disease. Today, some of their promises have come true while at the same time some key yardsticks remain out of reach for too many individuals.
Unfortunately, that does not include being on social media! But rest assured, that will change! Individualized medicine offers doctors and their patients new opportunities for preventative or therapeutic disease management with greater accuracy than ever before, including genetic screening tests to detect gene mutations associated with amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease), or experimental drugs that boost immunity against cancer cells. Advancements in personalized medicine present doctors with greater ways of diagnosing or treating diseases than ever before. Due to this trend, these technologies are rapidly gaining traction within society. More than half of the drugs approved by the Food and Drug Administration in 2023 were tailored specifically for certain subgroups of patients, with genetic markers becoming an integral component of standard medical practice, such as testing for cardiovascular disease risk, osteoporosis risk or depression with just a blood test.
Progress continues apace with the first personalized therapy ever developed to treat an incurable disease – CAR-T cell therapy for multiple myeloma is the first such personalized approach, targeting individual tumor-specific mutations to enable immune system attack of cells that cause multiple myeloma and prolong survival by up to 30% compared with chemotherapy alone in phase II studies.
Research scientists are pushing personalized medicine forward. Scientists at the Broad Institute in Cambridge, Massachusetts recently unveiled an algorithmic personal risk scorecard designed to calculate your odds of heart disease, breast cancer, type 2 diabetes, inflammatory bowel disease and atrial fibrillation. It takes into account factors like age, family history, smoking status as well as marijuana use or being an overnighter.
This scorecard, to be made available to physicians, builds upon an unsettling discovery: most people carry multiple mutations that, combined, can be as dangerous as a single gene mutation like that associated with high-risk breast and ovarian cancer risk – such as BRCA1. “These small mutations add up,” notes Sekar Kathiresan, cancer researcher who spearheaded this study.
Personalized medicine demands significant investment and widest possible implementation in clinical practice, and we at the Personalized Medicine Coalition are dedicating an increasing portion of our resources toward implementation science studies to demonstrate not only their scientific and clinical promise but how best to remove barriers to their widespread adoption and ensure everyone can benefit from its lifesaving promise. We firmly believe that personalized medicine represents the future of health care delivery.
