Ending the Diagnostic Odyssey: Rare Disease, Employers & Reimagining Health Plans
Hosts: Na-Ri Oh & Ian Wendt
Guest: Joshua Resnikoff, Founder & CEO, Sunstone Health
Episode Overview
What if the biggest innovation in rare disease wasn’t a new drug—but a new way to navigate the system?
In this episode, Na-Ri and Ian sit down with Joshua Resnikoff, biomedical engineer turned founder of Sunstone Health, to explore how employers can fundamentally rethink healthcare spending—while dramatically improving outcomes for families facing rare diseases.
Josh’s journey into healthcare reform wasn’t academic—it was personal. After years navigating the healthcare system to diagnose his son’s rare periodic fever syndrome, Josh experienced firsthand the emotional, financial, and systemic toll of what’s known as the diagnostic odyssey. That experience sparked a mission: compress a seven-year diagnostic journey into just 12 weeks.
This conversation dives into rare disease, employer-sponsored health plans, insurance mechanics, and why aligning incentives might be the key to transforming care.
🔬 From Scientist to System Builder
Josh’s background as a biomedical engineer at Harvard’s Wyss Institute
The rare disease journey that reshaped his career
Why getting a diagnosis—even without treatment—changes everything
The emotional and economic cost of delayed diagnosis
🧬 The 7-Year Diagnostic Odyssey
On average, it takes:
7 years from first symptom to effective treatment for rare disease patients
Countless ER visits, specialist referrals, medication trials, and escalating costs
Significant emotional strain—rare disease families face dramatically higher stress and divorce rates
Sunstone’s model reduces that timeline to approximately 12 weeks using:
Whole genome sequencing
AI-powered clinical interpretation
Expert clinician review (human-in-the-loop model)
Direct coordination with local care teams
The result?
Earlier intervention. Reduced healthcare utilization. Better outcomes.
💼 Why Employers Are the Key
Josh explains why self-funded employers—not traditional commercial insurers—are uniquely positioned to drive change.
Key insights:
~2/3 of Americans receive insurance through employers
Many large employers are self-funded, meaning they pay claims directly
Employers think in long-term employee retention (not 12-month insurance cycles)
Better healthcare = healthier employees = higher retention & productivity
Sunstone’s innovative model:
No per-employee-per-month subscription fees
Employers only pay when a family receives actionable results
High ROI through reduced ER visits, unnecessary treatments, and delayed care
🛡 Insurance 101 (Made Understandable)
The episode breaks down:
Fully insured vs. self-funded plans
Third-party administrators (TPAs)
Stop-loss / reinsurance
How high-cost cases (like $2M gene therapies) are financially managed
The takeaway:
When diagnoses happen earlier, total system costs often decrease—even when advanced therapies are involved.
🤝 Mission-Driven Innovation
A powerful theme throughout the conversation:
Many leaders in the rare disease ecosystem—including Josh—entered the field because of their own children.
That lived experience shapes:
Sunstone’s patient-first data ownership model
Continuous reanalysis of patient data
Clinical trial matching
Ethical alignment with families
As Josh says:
“Even if this whole thing went belly up, we will have helped hundreds of families—and I’d feel good about that for the rest of my life.”
🚀 Recent Milestones
Successfully raised Series A funding
800+ community investors via WeFunder
Integration with Broad Clinical Labs
Expanded epilepsy and autism-focused programs
Rapidly growing employer pipeline
🔗 Learn More
🌐 Sunstone Health: https://sunstonehealth.com
💼 Connect with Josh on LinkedIn
