About SequenceMedicine

Evidence-based genetic testing guidance for clinical practice

SequenceMedicine is a living clinical reference designed to support clinicians navigating the rapidly evolving landscape of genomic medicine. We synthesize published evidence into structured, actionable guidance for exome and genome sequencing decision-making.

Every patient with a suspected genetic condition deserves access to clear, evidence-grounded guidance about whether genomic testing is appropriate, what diagnostic yield to expect, and how results translate into clinical action. SequenceMedicine exists to make that knowledge accessible, structured, and transparent.

22
Organ Systems
189
References
4
Content Pillars

The Four Pillars

SequenceMedicine is built on four complementary content pillars. Together they provide a complete evidence framework — from raw literature to real-world clinical impact.

Indications Compendium
Organ-system-organized indications for exome and genome sequencing with diagnostic yield ranges, evidence tiers, and clinical red flags.
22 Organ Systems
Living Literature Review
Curated peer-reviewed references supporting diagnostic yield data and clinical utility evidence, organized by organ system.
189 References
Clinical Efficacy
Outcomes data and clinical utility metrics demonstrating the real-world impact of genomic testing on patient care.
Coming Soon
Case Presentations
De-identified clinical cases illustrating how genomic testing changed diagnosis and management across specialties.
Coming Soon

How Content Is Curated

AI-augmented evidence gathering combined with human clinical review. Every entry passes through a structured pipeline before publication.

Literature Scan
Automated PubMed and citation database scanning for relevant publications
AI-Assisted
Data Extraction
Structured extraction of yields, cohort sizes, and evidence levels
AI-Assisted
Cross-Reference
Validation against OMIM, ClinGen, and practice guidelines
Hybrid
Clinical Review
Board-eligible geneticist reviews accuracy and clinical relevance
Human
Publication
Evidence tier assigned and content published with full provenance
Human

No content is published without human clinical review. AI tools assist with literature scanning and data extraction to maintain comprehensiveness, while clinical judgment validates accuracy and relevance.

Our Standards

Transparency, rigor, and patient safety guide every editorial decision.

Evidence-Grounded
Every indication, yield, and recommendation is traceable to peer-reviewed published literature with explicit evidence tiers.
Continuously Updated
A living reference that incorporates new publications, practice guidelines, and consensus statements as they emerge.
Transparent Methodology
Evidence levels, source citations, and diagnostic yield ranges are always visible. Uncertainty is flagged explicitly.
Clinician-Authored
Content is curated and reviewed by clinical geneticists with active practice experience in rare disease diagnosis.
No Conflicts of Interest
SequenceMedicine receives no industry funding. Content decisions are independent of commercial testing laboratories.
Privacy First
All clinical cases are fully de-identified per HIPAA Safe Harbor. No patient-identifiable information appears on this site.

Part of the SequenceMD Ecosystem

SequenceMedicine is the evidence layer of a broader clinical genetics platform.

SequenceMD

SequenceMD is an AI-augmented clinical genetics platform supporting the full workflow from patient intake through variant interpretation and reporting. SequenceMedicine serves as its open, evidence-based reference layer — the curated knowledge foundation that supports clinical decision-making within and beyond the platform.

SequenceMedicine Home
Open Evidence, Open Access
SequenceMedicine content is freely available for clinical and educational use. We believe that evidence supporting genetic testing decisions should be accessible to all clinicians, regardless of institutional affiliation or subscription access.

SequenceMedicine is maintained by clinical geneticists committed to improving access to structured genomic testing evidence. Questions, corrections, and contributions are welcome.