AI Enhanced Rare Disease Diagnosis Workflow for Better Outcomes

Rare Disease Diagnosis Workflow

1. Patient Consultation

1.1 Initial Assessment

Conduct a thorough patient history and physical examination.

1.2 Symptom Documentation

Utilize AI-driven symptom checkers, such as IBM Watson Health, to gather and analyze patient-reported symptoms.

2. Genetic Testing

2.1 Sample Collection

Collect biological samples (e.g., blood, saliva) for genomic analysis.

2.2 Next-Generation Sequencing (NGS)

Implement NGS technologies, such as Illumina or Thermo Fisher Scientific platforms, to sequence the patient’s DNA.

2.3 Data Analysis

Use AI algorithms, like those offered by Deep Genomics, to interpret sequencing data and identify potential pathogenic variants.

3. Variant Interpretation

3.1 Database Comparison

Leverage AI tools like VarSome to compare identified variants against extensive genomic databases.

3.2 Clinical Relevance Assessment

Utilize AI-driven platforms, such as GeneDx, to evaluate the clinical significance of variants based on existing literature and case studies.

4. Multidisciplinary Team Review

4.1 Case Discussion

Organize a meeting with geneticists, clinicians, and AI specialists to review findings and discuss potential diagnoses.

4.2 Consensus Building

Utilize collaborative platforms like Slack or Microsoft Teams for real-time communication and decision-making.

5. Diagnosis Confirmation

5.1 Final Diagnosis

Confirm diagnosis based on genetic findings and clinical assessments.

5.2 Reporting

Generate comprehensive reports using AI tools such as 23andMe’s reporting software for patient-friendly communication.

6. Treatment Planning

6.1 Personalized Treatment Strategies

Utilize AI-driven platforms like Tempus to identify tailored treatment options based on the patient’s genetic makeup.

6.2 Monitoring and Adjustments

Implement AI tools for ongoing monitoring of treatment efficacy and adapt strategies as necessary.

7. Follow-Up and Support

7.1 Regular Follow-Ups

Schedule regular follow-up appointments to monitor patient health and treatment progress.

7.2 Patient Support Resources

Provide access to AI-based platforms like MyGeneCounsel for ongoing support and information on living with a rare disease.