Name of the Procedure:

Targeted Genomic Sequence Analysis Panel for Solid Organ or Hematolymphoid Neoplasm (DNA and RNA Analysis) involving 51 or more genes (e.g., ALK, BRAF, CDKN2A, CEBPA, DNMT3A, EGFR, ERBB2, EZH2, FLT3, IDH1, IDH2, JAK2, KIT, KRAS, MLL, NPM1, NR)

Summary

This procedure involves analyzing DNA and RNA from tissue samples of solid organs or blood-related (hematolymphoid) cancers to detect mutations in 51 or more specific genes. It helps in understanding the genetic basis of the cancer, guiding personalized treatment plans.

Purpose

The procedure is designed to identify genetic mutations associated with cancers to:

• Diagnose the type of cancer.
• Predict the course of the disease.
• Determine the most effective treatment options.
• Monitor the effectiveness of ongoing treatments.

Indications

This procedure is indicated for patients with:

• Known or suspected solid organ cancers (e.g., lung, breast, colon).
• Hematolymphoid neoplasms (e.g., leukemias, lymphomas).
• Symptoms suggesting malignancy that require genetic profiling for precise characterization.
• Previous inconclusive genetic tests that necessitate a comprehensive panel.

Preparation

Patients are typically advised to:

• Provide informed consent for genetic testing.
• Discuss current medications with their healthcare provider.
• Potentially fast or adjust medications as instructed, depending on specific medical conditions.
• Undergo preliminary diagnostic imaging or biopsies to obtain tissue samples.

Procedure Description

1. Sample Collection: A tissue biopsy, blood draw, or bone marrow aspiration.
2. DNA & RNA Extraction: Cells are broken down to isolate DNA and RNA.
3. Sequencing: DNA and RNA are sequenced using next-generation sequencing (NGS) technology.
4. Analysis: Data is analyzed using specialized software to identify genetic mutations.
5. Reporting: A comprehensive report is generated, detailing the genetic alterations and their clinical significance.

The procedure involves advanced genetic sequencing equipment and may require local anesthesia if a biopsy is needed.

Duration

The procedure itself takes minutes to collect samples, but sequencing and analysis can take several days to weeks.

Setting

The sample collection can be performed in:

• Hospitals
• Outpatient clinics
• Specialized diagnostic centers

Sequencing and analysis are conducted in specialized laboratories.

Personnel

• Oncologists or Hematologists
• Pathologists
• Geneticists
• Laboratory Technicians
• Nursing staff for sample collection

Risks and Complications

• Infection or bleeding at the biopsy site.
• Possible discomfort or pain during biopsy or blood draw.
• Rarely, incorrect biopsy samples leading to inaccurate results.

Benefits

• Tailored treatment plans based on genetic findings.
• Improved prognosis through targeted therapy.
• Early detection of relapse or resistance to treatment.

Recovery

• Minimal recovery time for sample collection, especially if involving blood draws.
• Post-biopsy care instructions may include wound care and pain management.
• Follow-up consultations for discussing genetic results and treatment planning.

Alternatives

• Standard chemotherapy or radiotherapy without genetic profiling.
• Other forms of limited genetic testing with fewer genes.

Patient Experience

Patients may experience:

• Mild to moderate discomfort during sample collection.
• Anxiety while waiting for results.
• Relief from having a detailed and personalized treatment plan. Pain management includes local anesthesia for biopsies and over-the-counter pain relief if needed.