Clinical Cases

The diagnostic journey, told from bedside to bench and back

De-identified case presentations illustrating how genomic testing transforms clinical care. Each case follows a structured three-act narrative: the clinical mystery before diagnosis, the analytical workup that unlocked the answer, and the management changes that followed.

3
Narrative Acts
0
Published Cases
100%
De-identified

Clinical genetics is fundamentally a diagnostic discipline. Behind every variant classification and every molecular result is a patient whose clinical course was shaped by the decision to pursue genomic testing. These case presentations capture that journey.

Every case follows the SequenceMD three-act presentation format, designed to mirror the clinical reasoning process and highlight the decision points that define genomic medicine practice.

The Three-Act Case Structure

Each case follows a standardized narrative arc from clinical presentation through diagnosis to outcomes

Before Diagnosis
The clinical presentation and the diagnostic question
  • Clinical presentation and chief complaint
  • Relevant history and red flag combinations
  • Differential diagnosis and prior workup
  • Clinical reasoning toward genetic testing
During Workup
Testing strategy, results, and variant interpretation
  • Test selection rationale (panel vs. exome vs. genome)
  • Key molecular findings and variant classification
  • Genotype-phenotype correlation analysis
  • Interpretation challenges and resolution
After Diagnosis
Clinical impact, management changes, and family implications
  • Diagnosis confirmation and clinical integration
  • Management modifications and targeted therapies
  • Family screening and cascade testing decisions
  • Long-term outcomes and surveillance planning

Case Preview

Illustrative example of the SequenceMD case presentation format

Preview Format
Unexpected Cardiomyopathy in a Young Athlete
Cardiology Exome Diagnostic
Before
19-year-old collegiate soccer player with exercise-induced syncope. Echo revealed asymmetric septal hypertrophy. Family history notable for paternal uncle with sudden cardiac death at age 34.
During
Exome sequencing identified a pathogenic MYBPC3 variant (c.2373dupG) consistent with hypertrophic cardiomyopathy. Parental testing confirmed paternal inheritance with variable expressivity across the family.
After
ICD placement for primary prevention. Activity restrictions with structured surveillance protocol. Three first-degree relatives identified as carriers through cascade testing, enabling proactive cardiac monitoring.
Outcome: Molecular diagnosis ended 8-month diagnostic workup. Enabled targeted surveillance for patient and at-risk family members, preventing potential sudden cardiac events.
Recurrent Hypoglycemia in an Infant with Macrosomia
Endocrine Gene Panel Management-changing
Before
4-month-old male with persistent hyperinsulinemic hypoglycemia refractory to diazoxide therapy. Born LGA at 4.8 kg. Recurrent hypoglycemic seizures despite continuous dextrose infusion and maximal medical therapy.
During
Targeted congenital hyperinsulinism panel revealed a paternally inherited ABCC8 variant (p.R1494W). Combined with 18F-DOPA PET showing focal uptake in the pancreatic body, findings indicated focal congenital hyperinsulinism.
After
Focal lesionectomy curative. Post-operative euglycemia without medication. Near-total pancreatectomy avoided, preserving long-term endocrine and exocrine function. Genetic counseling for future pregnancies.
Outcome: Molecular diagnosis distinguished focal from diffuse disease, enabling curative limited surgery instead of subtotal pancreatectomy with lifelong diabetes risk.

Case Library in Development

We are curating de-identified clinical cases that demonstrate the impact of genomic testing across organ systems. Each case will follow the three-act narrative structure shown above and will be cross-referenced to relevant indications, literature, and efficacy data within the SequenceMedicine platform.

Case Presentation Standards

De-identification All cases are thoroughly de-identified in accordance with HIPAA Safe Harbor standards. Demographic details are generalized and non-essential clinical details are omitted or modified to prevent re-identification.
Clinical Accuracy Molecular findings, variant classifications, and management recommendations reflect established clinical guidelines (ACMG/AMP) and are reviewed for accuracy and currency at the time of publication.
Educational Purpose Cases are presented for educational and clinical reference purposes. They illustrate diagnostic reasoning in genomic medicine and are not intended as direct guidance for individual patient care decisions.