RARE Advocacy Exchange Session 7, Getting a Precise Genetic Diagnosis

Getting A Precise Diagnosis is Critical for Adults & Children

Overview

Top Takeaways

• Diagnosis = Lifeline — Beyond naming a disease, a genetic diagnosis informs treatment options, clinical trial eligibility, prognosis, and family planning.
• Umbrella labels are not enough. Terms like “chronic kidney disease,” “cerebral palsy,” or “autism” are descriptive, not explanatory. Digging into the why is crucial.
• AI is reshaping access. Platforms like Probably Genetic use patient-driven data, AI, and telehealth to close diagnostic gaps.
• Data privacy matters. Patient consent, opt-in recontact, and de-identified data sharing build trust and enable long-term value.
• Equity gaps persist. Communities of color (e.g., APOL1-linked kidney disease in Black populations) are disproportionately impacted but under-tested.
• Telemedicine + counseling = access. Genetic tests alone aren’t enough; patients need interpretation, counseling, and guidance.
• Patient advocates drive change. Families often educate their own providers, spread awareness, and accelerate adoption of testing.
• Reclassification of variants (VUS) is ongoing. Many uncertainties today may be clarified tomorrow; repeat or updated testing can bring answers.
• Cross-pollination between umbrella and rare groups strengthens research infrastructure, natural history studies, and trial readiness.
• The future is near. With AI and large-scale initiatives (e.g., NIH’s RAPID program), the panel envisioned eliminating the “diagnostic odyssey” within five years.

Considerations for Advocates & Community

• Equip families to ask for genetic testing when confronted with ambiguous diagnoses.
• Educate primary care providers and specialists about when and how to order testing.
• Advocate for coverage of WES/WGS as first-tier diagnostics.
• Build bridges between rare condition-specific groups and umbrella communities (autism, CP, kidney disease) to leverage shared tools and outcome measures.
• Push for equitable access—testing programs must reach underserved, rural, and minority communities.
• Encourage clinicians to revisit old tests, re-check VUS classifications, and stay current with evolving guidelines.

Useful Resources

Questions Posed & Key Answers

Great Quotes & One-Liners

• “A diagnosis isn’t the end. It’s the beginning.” – Cody Barnett
• “Chronic kidney disease is like saying you have a fever. It’s not a diagnosis—it’s a symptom.” – Dr. Garimella
• “Umbrella (diagnosis) labels help, but we must always ask: why?” – Dr. Kruer
• “AI can be the Harry Potter sorting hat—matching families to the right diagnosis and community.” – Lukas
• “If you got a genetic test done, tell your doctor. They might test the next patient—and that changes everything.” – Lukas
• “You won’t find a patient with breast cancer today who hasn’t had genetic testing. Rare disease needs to catch up.” – Dr. Garimella
• “Five years from now, I want to see the diagnostic odyssey gone.” – Lukas
• “We may only have treatments for 5% of rare diseases, but diagnosis builds the case for the 95% still waiting.” – Panel consensus