The definition of effective patient care is steadily veering towards personalized medicine based on biology and genetics. The intrinsic characterization of patients by genome, facilitating precise, genetically-targeted therapies for safer treatments has garnered the attention of governments and leading healthcare companies worldwide.
As patients understand the challenges in acquiring rapid and tangible results from a one-size-fits-all treatment, precision medicine is uncovering more promising paths to drug development than traditional medicine. In healthcare, it’s a new frontier that involves genomics, population health, and big data analytics.
In 2021, the global precision medicine market was valued at USD 2.1 trillion. It is expected to grow at a compound annual growth rate (CAGR) of 11.6% from 2022 to 2030.
At its core, here’s what makes precision medicine so unique:
- Preventing certain diseases by identifying patients at high risk and screening strategies to detect a disease before symptoms appear.
- Evaluation tools to determine which treatment(s) will speed up the patient’s recovery process.
- Reducing instances of drug or treatment side-effects or adverse reactions in certain patients.
- Diagnostic tools to identify disease subtypes that require different treatment techniques
- Potential parents can be tested for certain genetic diseases to see if they carry the disease
- Streamlining the process of pharmaceutical clinical trials, reducing overall cost, time, and failure rates.
How the precision medicine landscape is evolving
Precision medicine plays an integral role in oncology and the treatment of late-stage diseases. Here’s a quick view of the latest trends:
- Expanding the portfolio beyond oncology
There is a growing interest in precision medicine outside of oncology with increased R&D activity in cardiology, infectious diseases, and neurological disorders. Researchers have discovered many genetic variants that lead to an increased risk of developing common cardiovascular diseases. As opposed to the practice of reductionism that treats patients with the same signs of a disease similarly, precision medicine analyzes phenotypic data within the framework of molecular interaction.
This helps identify optimal care for each patient based on their personal profile. Personalized medicine approaches even allow healthcare providers to adopt a more rational and effective preemptive treatment and surveillance strategy for infections by stratifying those patients at greatest risk for say, fungal infections and with the lowest fungal immune reserve.
As for treatments of neurological diseases, a timely case in point is the collaboration of Pfizer and Beam Therapeutics in early 2022, to focus on developing precision medicine for rare diseases of the liver, muscle, and central nervous system.
- Digital biomarkers (BMs) at the forefront
Digital BMs present a great opportunity to measure clinical endpoints in a remote and objective manner. Its impact has been quite noticeable in neurology, especially in assessing diseases like Parkinson’s and Alzheimer’s. Biomarkers are currently being studied to predict specific diseases and identify subgroups of patients who respond only to specific drugs.
In cancer treatment, personalized medicine uses specific biomarkers obtained from patient tumors to guide treatment regimens, monitor treatment response, or determine a prognosis. A spectrum of medical device companies such as Philips and GE are developing new imaging technologies for digital pathology to detect digital biomarkers.
- Leveraging big data analytics and ML technologies
To ensure the highest point of accuracy the data involved in creating a medication or treatment must be gathered from varied sources. These could be electronic health records (EHRs), Personal Health Records (PHRs), social networking platforms to understand social and lifestyle-based patterns across geographies, and patient-generated data collected through wearables and smartphones.
Also, several biological and environmental factors must be accounted for while acquiring data for precise medication. AI-driven solutions have been a great help in collecting and analyzing such information making it ready for cancer researchers, particularly, who rely on clean data to uncover cures and treatment options.
Also, DNA sequencing technology is another area that adopts ML and AI to read out long stretches of DNA fragments from digital electronic signaling data. This helps detect anomalies in patient data on time to change the course of treatment or medication, if need be, and reduce the load on healthcare workers. In this light, Quest Diagnostics and Paige collaborated in May 2021 to unlock the potential of AI to improve and speed up the diagnosis of cancer and other diseases which rely on pathological assessment.
- Next-generation sequencing
Several companies have started using next-generation sequencing technology in genomics enabling them to perform direct-to-consumer genetic testing. Next-gen sequencing provides superior data which can be used to analyze a broad range of genes and mutations.
Moreover, it is anticipated to eventually replace SNP-BeadArray chips as the primary method used for direct-to-consumer genetic testing. A key factor driving this change is the affordability of next-generation sequencing reagents. The costs associated with next-generation sequencing have dropped dramatically over the last ten years, eliminating one of the major barriers to the widespread execution of this technology.
How pharma companies can keep pace with these trends
As of 2020, around 280+ precision medicines have been introduced and several more are in the pipeline. Major pharmaceutical companies are developing offerings for population profiling, molecular diagnostics, and targeted therapy development.
They place a high emphasis on exploring genetic, phenotypic, and functional biomarkers that could help guide future clinical research. While some players are leveraging their data and informatics expertise to uncover noteworthy outcomes in precision medicine, other savvy firms are:
- Collaborating with pharma giants, universities, and multiple medical foundations
- Forming strategic partnerships to strengthen their portfolio and provide innovative solutions
- Expanding to new modalities in precision medicine
- Broadening their portfolio in new areas of precision medicine through mergers and acquisitions
Key players in the precision medicine market are focused on forming multi-year strategic collaborations with pharma stalwarts and expanding their product portfolio to explore new therapeutic areas for rare diseases.
Besides those already mentioned, here’s how top industry participants are driving accelerated business in precision medicine:
- Janssen, Amgen, and Syapse are expanding their foothold on precision oncology individually through collaborations with other entities.
- Blueprint Genetics was acquired by Quest Diagnostics in January 2020, strengthening Quest Diagnostics’ portfolio of precision medicine products for rare diseases.
- Companion diagnostics (CDx) based on next-generation sequencing (NGS) were launched by Thermo Fischer and AstraZeneca in September 2021.
Precision medicine offers a tremendous opportunity to shape the future of healthcare. Our in-house healthcare experts have put together an insightful report ‘Precision Medicine – Owning the Healthcare Spotlight’ available on request. Simply write to us to get your copy and uncover where this space is headed and what it means for your business.
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