Personalized Medicine for the Future

This video provides an in-depth exploration of pharmacogenetics (PGx) as the future of precision medicine, focusing on overcoming the critical barrier of clinical applicability. Nick Glimcher, founder of Blue Genes, details his company's journey and the development of a clinical management software tool designed to integrate PGx data directly into the prescribing workflow. The core problem addressed is that while PGx science—determining which drugs work for an individual based on their genetic makeup—has been commercially viable since 2010, its widespread usage has been hampered by complex, multi-page reports (17+ pages) that providers lack the time or expertise to interpret and apply effectively. The information, if unused, is rendered worthless, despite being a one-time, lifetime test.

Blue Genes' solution is a software layer that acts as a fail-safe against catastrophic human error in prescribing. It integrates with Pharmacy Benefit Managers (PBMs) and, potentially, Electronic Medical Records (EMRs), to intercept electronic prescriptions (e-scripts) at the point of sale. The system queries the genetic data and, if the drug is not genetically efficacious for the patient, sends an instantaneous notification back to the PBM to halt adjudication. Simultaneously, push notifications are sent to the prescribing provider and the patient. The notification to the provider includes a clear path to resolution, offering a list of genetically appropriate and cost-effective alternatives based on the payer’s formulary. This process, which Glimcher terms the "TikTok effect" due to its speed and simplicity, ensures that the actionable data is delivered in seconds, dramatically improving clinical outcomes.

The financial and clinical impact of this technology is substantial, moving beyond simple cost mitigation to preventing avoidable hospitalizations. Glimcher shares actuarial study data showing that for Plavix alone—a common anti-coagulation drug—the system can generate a $4,499 per member per year saving. This saving does not come from the cost of the generic drug, but from preventing adverse events. Approximately 30% of the population are "ultra-rapid metabolizers" of Plavix, making them 8.5 times more likely to suffer a bleed event, potentially leading to re-stenting or hospitalization (a $20,000 to $40,000 expense). By targeting high-risk, high-utilizing members (typically 10-20% of a population) for the $299 one-time test and the $6.99 PMPM software fee, the ROI is demonstrably high. The company is actively pursuing large-scale pilots with major payers and state Medicaid programs (like Louisiana) to generate the necessary evidence to establish PGx as the standard of care within five years.

The discussion also highlights the political and regulatory landscape. Glimcher notes that adverse drug reactions are the second leading cause of hospitalization in the US, underscoring the urgency for technological intervention. He emphasizes that healthcare is the last sector to adopt technology, despite its critical role. The company is actively involved in lobbying, citing bipartisan support for PGx legislation (e.g., Senators Tim Scott and Sherrod Brown co-sponsoring bills) aimed at securing coverage determinations for Medicaid patients. This political engagement is crucial for driving widespread adoption and addressing rising healthcare costs, positioning precision medicine as a "scalpel surgery" approach compared to the current "grenade care."

Key Takeaways:

• Pharmacogenetics (PGx) Applicability Gap: The primary barrier to widespread PGx adoption is not the science itself, but the lack of applicability in the clinical workflow; complex 17-page reports are largely ignored by time-constrained providers, rendering the lifetime genetic data useless.
• Software as a Clinical Fail-Safe: Blue Genes developed a clinical management tool that integrates with PBMs to intercept e-scripts and provide instantaneous genetic efficacy checks, acting as a critical fail-safe against human prescribing error.
• Focus on Avoidable Clinical Outcomes: The major financial benefit of PGx implementation is not reduced drug spend, but the prevention of expensive, avoidable clinical outcomes and hospitalizations, which are often monster expenses for payers and self-insured plans.
• High ROI Example (Plavix): Actuarial studies showed a $4,499 per member per year saving on Plavix alone by identifying ultra-rapid metabolizers (30% of the population) who are 8.5 times more likely to experience a dangerous bleed event requiring costly re-stenting or hospitalization.
• Targeted Enrollment Strategy: To ensure financial viability, PGx testing should initially target high-risk, high-utilizing members (typically 10-20% of the population) rather than the entire employee base, maximizing the return on the one-time test investment ($299 capitated cost).
• The "TikTok Effect" in Prescribing: To ensure provider adoption, intervention must be immediate and simple, providing a clear path of resolution in seconds. The system notifies the provider that the script is ineffective and offers a list of genetically appropriate, formulary-compliant alternatives.
• Data Security is Paramount: The most significant technological hurdle for scalable PGx solutions is ensuring robust data security and integrity, especially when handling sensitive genetic and medical data, which requires significant infrastructure investment.
• Bipartisan Political Momentum: There is growing bipartisan support for PGx legislation in Washington (e.g., Senators Scott and Brown) focused on securing coverage determinations for Medicaid and other populations, driven by the need for healthcare cost mitigation and improved patient care.
• Chronic Condition Impact: PGx has major impact potential across several high-cost chronic conditions, including mental health (SSRIs, eliminating the "guessing game"), cardiac disease (beta blockers, Plavix), substance abuse (opiates), and diabetes.
• PGx Test Details: The test uses a buccal swab (cheek swab) and focuses on known response genes and CP isozymes, which impact the ability to respond to or metabolize medication. It is not whole-genome sequencing.
• Data Portability Challenge: While the genetic data is permanent, the efficacy of the Blue Genes solution depends on PBM integration. If a member changes employers and the new plan doesn't use the service, the automated fail-safe is lost, highlighting the need for widespread adoption.

Tools/Resources Mentioned:

• The Blue Genes Solution: Clinical management software tool for pharmacogenetics.
• PBMs (Pharmacy Benefit Managers): Key integration point for intercepting e-scripts.
• EMRs (Electronic Medical Records): Potential integration point, though PBM integration is preferred for broader patient protection.

Key Concepts:

• Pharmacogenetics (PGx): The science of determining which drugs work for an individual and which do not, based on their genetic makeup.
• Precision Medicine: An innovative approach that provides detailed and targeted care based on an individual's genetic profile.
• Ultra-Rapid Metabolizer: A genetic classification where an individual metabolizes a drug (like Plavix, a pro-drug) too quickly, leading to ineffectiveness or adverse outcomes (e.g., excessive blood thinning).
• CP Isozymes: Enzymes that impact an individual's ability to metabolize medication appropriately, a key focus area for PGx testing.

Examples/Case Studies:

• Plavix Actuarial Study: Publicly available Medicare data extrapolated to show a $4,499 per member per year saving on Plavix alone by preventing avoidable clinical events like re-stenting or hospitalization caused by the drug being ineffective for ultra-rapid metabolizers.
• Employee Case Study: A 45-year-old employee, previously hospitalized six times for anxiety while taking Prozac (since 2010), was later hospitalized for chest pain after being prescribed the beta-blocker Metoprolol. PGx testing revealed the Prozac was ineffective and the Metoprolol was not being metabolized properly, causing the chest pain. The $299 test could have prevented a $17,000 hospitalization and years of ineffective treatment.