Genomic medicine has improved drastically and will continue to do so in the
next decade; we need to use this powerful therapy carefully.
On December 8, 2023, the FDA reached an important milestone for sickle cell anemia as well as medicine by approving CASGEVY (exagamglogene autotemcel)—the first approved CRISPR gene-edited therapy.
Genomic medicine and the ability to directly target, or even change, a patient’s genetic makeup was once a distant dream. But now that it’s here, we must make efforts to integrate these new advancements into clinical practice. We need care pathways and models that allow for the integration of genomic medicine alongside established therapies. This will require a coordinated effort between a variety of stakeholders, not limited to HCPs, policy experts, advocacy groups, and payers. To do so, we should consider where we started, where we are today, and where the field of genomic medicine may be headed.
Past and Present
When the Human Genome Project was completed in 2003, I was a young graduate student studying molecular biology. My fellow students and I knew that this was the start of something big. Once you identify a genetic disease target, you have a crucial piece of information that can help guide the development of therapies to address it, though time and cost were still huge limitations.
Fast forward to today, technology has dramatically reduced the time and cost of sequencing a human genome1,2, and the integration of genomic data into clinical practice has led to the emergence of precision medicine in more common conditions, such as certain cancers.
Now, we need to ensure patients can access these therapies by taking at least three measures. First, medical education is needed to facilitate awareness among HCPs. Second, partnering with patient advocacy groups and professional societies would help identify promising patient candidates. Finally, economic arguments regarding cost effectiveness may persuade insurance providers to support coverage for these patients.
Anticipating the Future
Looking ahead, genomic medicine seems to have a bright and exciting future. We can leverage AI with genomic databases for deeper understanding of complex genetic diseases and possibly identify of new treatments on a time scale that is faster than we ever imagined.
We may even go beyond disease treatment and create predictive models that can foresee disease susceptibility, allowing for preventative interventions.
Nevertheless, we should temper our expectations and approach the future of genomic medicine with some caution. Although impressive, these therapies are not perfect, as
they come with potential side effects and unintended consequences. The clinical use of gene editing tools may inadvertently increase the risk of developing cancer. Moreover,
the broad integration of these treatments into healthcare systems will be heavily reliant on a deep consideration of the ethical issues surrounding the privacy of genomic data and facilitating equitable access to these currently expensive treatments.
I personally think that these approaches won’t replace traditional therapies, but rather that care will be optimized and tailored specifically to the clinical scenario at hand. With genomic medicine, personalized care will truly become “personal,” and prevention, diagnosis, and treatment will be as unique as the personality of the patient being treated.
