Ending The Diagnostic Odyssey with Josh Resnikoff
Ending the Diagnostic Odyssey: Rare Disease, Employers & Reimagining Health Plans
Hosts: Na-Ri Oh & Ian Wendt
Guest: Joshua Resnikoff, Founder & CEO, Sunstone Health
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
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The rare disease journey that reshaped his career
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Why getting a diagnosis—even without treatment—changes everything
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The emotional and economic cost of delayed diagnosis
On average, it takes:
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7 years from first symptom to effective treatment for rare disease patients
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Countless ER visits, specialist referrals, medication trials, and escalating costs
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Significant emotional strain—rare disease families face dramatically higher stress and divorce rates
Sunstone’s model reduces that timeline to approximately 12 weeks using:
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Whole genome sequencing
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AI-powered clinical interpretation
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Expert clinician review (human-in-the-loop model)
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Direct coordination with local care teams
The result?
Earlier intervention. Reduced healthcare utilization. Better outcomes.
Josh explains why self-funded employers—not traditional commercial insurers—are uniquely positioned to drive change.
Key insights:
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~2/3 of Americans receive insurance through employers
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Many large employers are self-funded, meaning they pay claims directly
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Employers think in long-term employee retention (not 12-month insurance cycles)
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Better healthcare = healthier employees = higher retention & productivity
Sunstone’s innovative model:
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No per-employee-per-month subscription fees
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Employers only pay when a family receives actionable results
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High ROI through reduced ER visits, unnecessary treatments, and delayed care
The episode breaks down:
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Fully insured vs. self-funded plans
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Third-party administrators (TPAs)
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Stop-loss / reinsurance
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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.
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:
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Sunstone’s patient-first data ownership model
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Continuous reanalysis of patient data
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Clinical trial matching
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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
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800+ community investors via WeFunder
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Integration with Broad Clinical Labs
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Expanded epilepsy and autism-focused programs
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Rapidly growing employer pipeline
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🌐 Sunstone Health: https://sunstonehealth.com
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💼 Connect with Josh on LinkedIn