6 minute read
Precision Medicine Healthcare’s promising disrupter?
By Nina Flanagan
Precision medicine has the potential to revolutionize healthcare by providing better treatment options and earlier diagnoses. The inclusion of genetic, lifestyle, and environmental information serves as a roadmap to personalized care. Genetic information and analysis create massive amounts of data that ideally leads to new drug targets and better understanding of disease processes. Along the way, new initiatives and innovations are being developed to address health disparities and to advance research efforts.
The frequency of “Precision Medicine ” as a title phrase over time in the medical literature gives a striking visual of the explosion of interest in this innovative approach.
A shift from a “ one-size-fits-all” treatment approach to precision medicine has huge implications for healthcare. A 2021 Research & Markets report estimated the global precision medicine market will reach $100 USD billion by 2026, driven by a surge in chronic diseases, such as cancer, cardiovascular disease, and obesity. Cancer alone is expected to increase 47% worldwide by 2040, affecting 28.4 million people. Cardiovascular diseases remain the leading cause of death worldwide, costing almost 18 million lives every year. These public health challenges are incentives to adapt precision medicine and there are now 14 countries with national genomic initiatives. Addressing Health Disparities Using Precision Medicine Approaches
There are concerns that the potential of precision medicine remains overshadowed by health disparities. Several initiatives are currently addressing this. The All of Us Research Program, established in 2015 by former President Obama in collaboration with the National Institutes of Health (NIH), is working to address health disparities by reaching out to all communities to enlist one million volunteers for its DNA registry.
The program recently involved tribal leaders of the American Indian and American Alaskan populations for inclusion in this registry. Its first genomic data set was released in March, including 100,000 whole genome sequences and 165,000 genotyping arrays with almost half the data from those who selfidentified as a racial or ethnic minority group.
Additional programs include drug developers partnering with health systems which have large databases of genomic information. For example, Regeneron Pharmaceuticals, Inc., has partnered with Geisinger ’ s Health System in Pennsylvania to obtain 250,00 DNA samples from volunteers to be used for identifying and validating new drug targets and pharmacogenetic markers. Regeneron announced last year that they discovered a rare genetic variation on a gene, GPR75, that reduces the risk of obesity by 54% and is developing potential therapeutics. The discovery process included a large study that analyzed genetic and health data from almost 650,000 volunteers in collaboration with Geisinger and three additional health organizations. This has far-reaching implications since it’ s estimated that there will be a billion people worldwide with obesity by 2030.
Current Key Innovations Shaping Healthcare
Large databases of genomic information require fast analysis and data tracking. Innovations in artificial intelligence (AI) and machine learning continue to be developed to address these needs. However, AI and machine learning are also being used to predict disease. Researchers at Cincinnati Children ’ s Hospital are using these tools to help identify children at high risk of developing a mental health condition (depression, anxiety, and suicide) over time, potentially resulting in better outcomes and quality of life.
Under the umbrella of drug development, key technologies include the identity and validation of biomarkers to monitor drug responses and the development of new biomarkers with enhanced specificity for safer medications. One of the latest cell therapies, CAR-T (Chimeric Antigen Receptors T cells) treatment has been shown to be successful for hard-to-treat blood cancers like leukemia and lymphoma but has shown limited success for solid tumors.
Researchers are adapting messenger RNA (mRNA) technology, recently made use of in COVID-19 vaccines, for personalized cancer vaccines. The MD Anderson Cancer Center has a Phase II clinical trial using mRNA to prevent recurrent colorectal cancer. There are additional trials at other institutions using this technology to potentially treat melanoma (advanced skin cancer), lung, and breast cancer.
Pharmacogenomics is providing testing for gene variations that leads to better treatment options. As of last year, there were 178 new drug approvals to date with labeled pharmacogenomic biomarker information, with oncology as the most common therapeutic area (49.4%). Additional therapeutic areas include neurology, infectious disease, psychiatry, metabolism, cardiology, hematology, and pulmonology. These are prescribed based on an individual’ s genetics.
Challenges Moving Ahead
Various health data – genetic, real-time data from wearables and other personal monitoring devices, clinical, and environmental, will create a unique, complete individual profile that will, ideally, provide better treatment options. However, challenges still exist. Manufacturing will need to scale-up via automation and agile software to meet the potential demand for new, customized therapies. Cybersecurity and privacy issues relating to the collection, storage, and access of data remain ongoing concerns for stakeholders.
Accessibility to new treatments is often hampered by insurance guidelines. A group of healthcare and patient advocacy groups addressed their concerns in a letter to Congress last year regarding access to targeted autoimmune disease therapies. The group stated that these diseases “have a disproportionate impact on women – nearly three-quarters – and are more common in minority populations. ” Furthermore, they said these diseases often go undiagnosed until symptoms appear in advanced stages. Many insurers, including Medicare Advantage, use “ step therapy ” that requires patients to try drugs on the plans ’ formulary to see what works and what fails. However, drug substitutions become more difficult with customized products. The group urged Congress to provide access to predictive drug response testing to help streamline effective treatment decisions.
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There ’ s no doubt that precision medicine will continue to evolve and provide more diagnostic tools and therapies as it expands into other therapeutic areas besides cancer, such as cardiovascular, metabolic, and neurodegenerative diseases. According to the Personalized Medicine Coalition, more than 30% of FDA new drug approvals in 4 of the 5 years between 2016 and 2021 were personalized medicines, with 17 approved last year. The agency also approved new indications for nine diagnostic tests to help assess targeted therapy decisions.
There may be a day in the future when a wearable device can quickly scan your DNA to pinpoint potential disease markers or mutations well before any symptoms appear. Perhaps nanoparticles will repair those mutations or prevent autoimmune responses. Armed with the right technology, you may be able to diagnose and heal yourself using your own cells. Sounds like science fiction? Maybe – but it took 13 years initially to sequence the human genome and now it can be done in a day or two. Precision medicine has the potential to advance healthcare for all populations. It will be interesting to see what new technologies develop over the next five years.
References
Doxzen, Kevin, et.al. 2022.
“Advancing Precision Medicine through Agile Governance. Bridging innovation and regulation for the greater good. ” Accessed May 22, 2022. https://www.brookings.edu/research/advancing-precision-medicine-through
Kelly, T. et al. 2008. Global burden of obesity in 2005 and projections to 2030. Accessed June 3, 2022. https://pubmed.ncbi.nlm.nih.gov/18607383/#:~:text=By%202030%2C%20the%20respective%20number,and%201.12%20billion%20obese%20individuals MD Anderson Cancer Center. 2021. “Can mRNA vaccines be used in cancer care?” Accessed May 23, 2022. https://www.mdanderson.org/cancerwise/canmrna-vaccines-like-those-used-for-covid-19-be-used-in-cancer-care.h00-159457689.html
NIH. 2022.
“Research Roundup: Genomic data release opens new paths for discovery. ” Accessed May 23, 2022. https://www.allofus.nih.gov/news-events/announcements/research-roundup-genomic-data-release-opens-new-paths-discovery
Personalized Medicine Coalition. 2021. “Personalized Medicine at the FDA: The Scope & Significance of Progress in 2021. ” Accessed May 26, 2002.
https://www.personalizedmedicinecoalition.org/Userfiles/PMCCorporate/file/Personalized _ Medicine _ at _ FDA _ The _ Scope _ Significance _ of _ Progress _ in _ 2021.pdf
Regeneron. n.d.
“About the Regeneron Genetics Center and the Geisinger Health System Collaboration. ” Accessed May 22, 2022. https://www.regeneron.com/downloads/rgc _ factsheet _ghscollaboration _ final.pdf
Research and Markets. 2021.
“The Worldwide Precision Medicine Market is Expected to Reach $100 Billion by 2026. ” Cision. Accessed May 25, 2022. https://www.prnewswire.com/news-releases/the-worldwide-precision-medicine-industry-is-expected-to-reach-100-billion-by-2026-301221065.html
The editors. 2021. RealClear Health.
“Emerging Innovations Within the Field of Precision Medicine. Accessed May 26, 2022. https://www.realclearhealth.com/articles/2021/11/13/emerging_
