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OriginalMD

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← SequenceMedicine
Physician Genomics Platform

The Original Standard in
Genomic Medicine

Evidence-based pathways, clinical decision support, and specialist integration for physicians bringing the power of genetic testing to every patient who needs it.

20
Organ Systems
~53%
Avg. Diagnostic Yield
80
Peer-Reviewed References
5–7yr
Odyssey Prevented

Medicine Knows More Than
Clinicians Can Access

The distance between genomic capability and clinical practice is measured in years of unnecessary patient suffering.

The average physician receives fewer than 10 hours of genetics education across four years of medical school. Yet 1 in 10 patients presenting in primary care carries a genetic condition that could be identified through targeted testing.

This gap produces a predictable pattern: patients cycle through 7 or more specialists over 5 to 7 years before receiving a molecular diagnosis. Along the way, they accumulate redundant imaging, empiric therapies, and exploratory procedures — none of which address the underlying cause.

The problem is not a lack of evidence. Exome and genome sequencing deliver diagnostic yields of 15% to 95% depending on the organ system, with an average midpoint of ~53% across strong-evidence indications. The problem is that this evidence has not been translated into actionable clinical workflows that any physician can follow.

OriginalMD exists to close that gap.

< 10 hrs
Genetics training in the average medical school curriculum — for a discipline that now touches every specialty
1 in 10
Patients in primary care who carry a genetic condition amenable to molecular diagnosis
$1 Trillion
Annual U.S. cost burden of rare diseases — much of it driven by undiagnosed patients cycling through the system
30 Million
Americans affected by rare diseases, most without a definitive molecular diagnosis

From Clinical Pattern to
Definitive Diagnosis

CarePathways transform genetic testing from an ad hoc lab order into a structured, evidence-backed clinical workflow with measurable outcomes.

01

Pattern Recognition

Identify patients whose clinical presentation — unexplained symptoms across multiple systems, family history signals, or treatment resistance — warrants genomic evaluation.

  • Phenotype-driven indication matching
  • Family history red flag detection
  • Multi-system symptom clustering
02

Test Selection

Choose the right test for the clinical question. Gene panels, exome sequencing, or genome sequencing — each matched to indication-specific evidence for diagnostic yield.

  • Organ-system yield data across 20 systems
  • Panel vs. exome vs. genome guidance
  • Pre-test genetic counseling integration
03

Result Interpretation

Translate molecular findings into clinical action. Pathogenic variants, variants of uncertain significance, and negative results each require distinct clinical follow-through.

  • Variant classification frameworks
  • Management change decision trees
  • Cascade testing for family members
04

Care Plan Integration

A molecular diagnosis changes everything downstream — surveillance protocols, targeted therapies, reproductive counseling, and the elimination of unnecessary workup.

  • Condition-specific management guidelines
  • Therapy eligibility screening
  • Long-term surveillance scheduling
05

Outcome Measurement

Track diagnostic yield, time-to-diagnosis, management changes, and downstream utilization reduction to demonstrate value and refine pathways.

  • Per-pathway diagnostic yield tracking
  • Cost avoidance documentation
  • Patient-reported outcome capture
06

Continuous Learning

As variant databases grow and new gene-disease associations emerge, pathways evolve — ensuring clinicians always work from the current evidence base.

  • Quarterly evidence review cycles
  • Reclassification alert system
  • CME-integrated pathway updates

Diagnostic Yield by System

Published exome/genome sequencing yield ranges across Tier 1 organ systems

Dermatologic
58–95%
Ophthalmic
49–92%
Metabolic
88–90%
Musculoskeletal
50–89%
Nephrology
46–81%
Pulmonary
47–80%
Cardiovascular
32–67%
Neurological
43–58%
Developmental
27–41%

Connecting Primary Care
to Genomic Expertise

OriginalMD bridges the gap between the clinician at the bedside and the genetics specialist who can guide diagnosis, interpretation, and management.

Referral Optimization

Structured referral pathways ensure patients reach the right genetics specialist with complete phenotypic information, reducing back-and-forth and accelerating time to evaluation.

Pre-Test Clinical Review

Integrated genetic counseling workflows prepare patients and providers before testing, ensuring informed consent, appropriate test selection, and realistic expectation-setting.

Results Co-Interpretation

Complex genomic results — including variants of uncertain significance — are reviewed collaboratively between ordering clinicians and genetics specialists, with structured frameworks for clinical decision-making.

Family Cascade Support

When a pathogenic variant is identified, cascade testing protocols guide the systematic evaluation of at-risk family members — turning one diagnosis into a family-wide risk stratification strategy.


Part of the SequenceMedicine Ecosystem

OriginalMD is a physician-facing node in the SequenceMedicine network — a coordinated ecosystem of specialty-specific genomic medicine platforms, each built on shared evidence and unified clinical pathways.