SequenceMedicine

Evidence-based genetic testing indications for clinical genetics

A curated compendium of exome and genome sequencing indications across 22 organ systems, grounded in published diagnostic yields and supported by 189 literature references. Built for clinicians ordering and interpreting genomic tests.

Diagnostic Yield by Organ System

Percentage of patients receiving a molecular diagnosis through genetic testing. Strong-evidence systems with published yield data from peer-reviewed literature.

The Diagnostic Odyssey vs. CarePathway

Today's rare disease patients cycle through years of specialists, imaging, and empiric treatments. A CarePathway collapses this into a single diagnostic episode.

    graph LR
      subgraph odyssey["Traditional Diagnostic Odyssey — 5-7 Years"]
        direction LR
        A1["Patient\nSymptoms Onset"] --> A2["PCP Visit\n$200"]
        A2 --> A3["Specialist #1\n$500"]
        A3 --> A4["Imaging\n$2,500"]
        A4 --> A5["Specialist #2\n$500"]
        A5 --> A6["Lab Work\n$1,200"]
        A6 --> A7["Specialist #3\n$500"]
        A7 --> A8["Exploratory\nProcedure\n$15,000"]
        A8 --> A9["Specialist #4\n$500"]
        A9 --> A10["Maybe\nDiagnosis?"]
      end
      subgraph pathway["CarePathway — Weeks"]
        direction LR
        B1["Patient\nScreening\nRed Flags"] --> B2["Genetic\nCounseling\n$200"]
        B2 --> B3["Genetic Test\n$250–3,000"]
        B3 --> B4["Molecular\nDiagnosis"]
        B4 --> B5["Targeted\nTherapy"]
      end
      style odyssey fill:#fef2f2,stroke:#fca5a5
      style pathway fill:#dcfce7,stroke:#86efac
      style A10 fill:#fecaca,stroke:#ef4444,color:#991b1b
      style B4 fill:#bbf7d0,stroke:#16a34a,color:#14532d
      style B5 fill:#bbf7d0,stroke:#16a34a,color:#14532d

Cost Impact: Testing vs. Avoided Spend

A single genetic test costing $250–$3,000 can prevent $50,000–$500,000+ in unnecessary downstream care.

Organ System	Genetic Test Cost	Avg. Pre-Dx Spend	Potential Savings	Yield
Musculoskeletal	$250 – $3,000	$80,000 – $250,000	$77,000 – $247,000	50–89%
Neurological	$250 – $3,000	$100,000 – $500,000	$97,000 – $497,000	43–58%
Cardiovascular	$250 – $1,500	$50,000 – $200,000	$48,500 – $198,500	32–67%
Nephrology	$250 – $3,000	$75,000 – $300,000	$72,000 – $297,000	46–81%