The changes in medicine over the last 3 decades have been enormous. Incredible basic science and clinical research have led to dramatic, miraculous, life-changing advances in diagnostics, therapeutics, and technology. Scientific advances have benefited patients and led to cures for previously incurable diseases. The fundamental shift in how we think about medicine is even more significant than specific scientific breakthroughs. Until recently, we had “one size fits all medicine,” where the diagnosis and treatment of disease were the same for all patients.
For centuries we have incorrectly believed that diseases that manifest in men and women are the same disease, that diseases in men and women respond to treatments the same, and that the same disease in different individuals is the same disease. We never considered how sex, individual genetics, or individual genetics of tumors could influence the disease manifestation or response to therapy. Thanks to science and advances in genetics and whole genome sequencing, we know that a “one size fits all” approach is wrong. The new paradigm is ‘Precision Medicine”: the proper screening test, the right treatment for an individual patient and their specific disease at the right time. Advances in Precision Medicine and advances explicitly in Precision Medicine for diseases that affect women specifically have led to significant advances in women’s health.
Precision Medicine can be divided into 4 general areas of medicine:
- disease prevention through whole genome sequencing and identification of hereditary cancer mutations,
- early disease diagnosis through tumor biomarkers and circulating cell-free DNA (CF DNA), also called “liquid biopsies”,
- individualized cancer treatments based on the genetic profiling of an individual’s specific tumor and tumor-informed CF DNA “liquid biopsies” to define residual disease after treatment or to detect early/molecular disease recurrence, and,
- pharmacogenomics or an understanding of an individual’s specific genetic metabolic pathways to understand how an individual will respond to treatment or experience toxicity to treatment.
In women’s health, precision medicine has had an enormous and positive impact.
- Advances in technology have led to advances in whole genome sequencing and lower cost and the broad availability of hereditary cancer panels allowing us to identify individuals at high risk of developing specific cancers such as breast, ovary, endometrium, CRC, and others, at a time before the development of cancer so preventative measures can be taken.
- In 2021, the first multicancer early-detection CF DNA test became commercially available in the US, allowing for population screening, through a blood test, for 50 cancers currently without screening. In women’s oncology, advances in precision medicine have led to dramatic advances in targeted therapies- less toxic and more effective- based on the genetic profiling of an individual woman’s specific tumors.
- Using an individual woman’s specific tumor, “tumor-informed” serum can now be created and then used serially to detect residual disease after neo-adjuvant therapy or surgery or early molecular disease recurrence after completion of primary therapy.
- And finally, pharmacogenomics- and understanding of an individual’s specific metabolic pathways- allow us to identify patients who are likely to respond or not to a specific therapy or may have toxicity. Specific to our breast cancer patients on extended endocrine therapy, pharmacogenomics, and specific tumor genetic profiling of a specific tumor in an individual patent allows us to understand better who will benefit from extended endocrine therapy and who will not.
While the scientific advances in Precision Medicine have been enormous and positive for individual patients and may have benefits for the health of our population, not all that glitters Is gold. The equitable adoption of this new and costly technology is problematic and remains to be a challenge to be solved.
