0239U Targeted genomic sequence analysis panel, solid organ neoplasm, cell-free dna, analysis of 311 or more genes, interrogation for sequence variants, including substitutions, insertions, deletions, select rearrangements, and copy number variations

Name of the Procedure:

Targeted Genomic Sequence Analysis Panel for Solid Organ Neoplasm, Cell-Free DNA
Common Names: Targeted Genomic Sequencing, Cancer Liquid Biopsy

Summary

This procedure involves analyzing a blood sample to identify genetic changes in DNA fragments released by a solid organ tumor into the bloodstream. This technique focuses on detecting various genetic alterations, including sequence variants, insertions, deletions, rearrangements, and copy number variations, covering 311 or more genes.

Purpose

The procedure aims to:

• Identify genetic mutations and alterations in tumor DNA.
• Aid in diagnosing and tailoring personalized treatment plans for solid organ cancers.
• Monitor the effectiveness of ongoing cancer therapies and detect potential relapses early.

Indications

The procedure may be indicated for:

• Patients diagnosed with solid organ tumors.
• Individuals with a high risk of cancer (e.g., due to family history or genetic predisposition).
• Monitoring treatment response and detecting minimal residual disease or recurrence.

Preparation

• Generally, no special preparation like fasting is required.
• Patients might be advised to avoid certain medications temporarily, depending on specific medical advice.
• A blood sample will be drawn, so hydration might be encouraged.

Procedure Description

1. A blood sample is drawn from the patient, typically from a vein in the arm.
2. The sample is processed to isolate cell-free DNA (cfDNA).
3. The cfDNA is then analyzed using high-throughput sequencing technologies to detect genetic alterations in the tumor DNA.
4. Bioinformatics tools are used to interpret the sequencing data and identify clinically significant genetic variants.

Tools and Equipment:

• Standard phlebotomy supplies for blood collection.
• High-throughput DNA sequencing machinery.
• Specialized software for data analysis.

Anesthesia or Sedation: Not applicable.

Duration

The blood draw itself takes about 10-15 minutes. The entire analysis process can take from several days to a few weeks, depending on the laboratory's workflow.

Setting

The blood sample is typically collected in an outpatient setting, such as a clinic or hospital lab. The genomic analysis is performed in specialized laboratories.

Personnel

• Phlebotomists or nurses for blood sample collection.
• Laboratory technicians and clinical geneticists for sample processing and analysis.
• Oncologists and genetic counselors for interpreting the results and discussing them with the patient.

Risks and Complications

• Minor risks related to blood draw, such as bruising or infection at the puncture site.
• False positives or negatives, though rare, may lead to misdiagnosis or delayed treatment.
• Emotional impact of learning about genetic mutations and their implications.

Benefits

• Non-invasive compared to traditional tissue biopsies.
• Provides comprehensive genetic information to guide personalized treatment plans.
• Allows for monitoring treatment efficacy and early detection of recurrence.

Recovery

• Minimal recovery needed; patients can resume normal activities immediately after the blood draw.
• Follow-up appointments may be scheduled to discuss results and adjust treatment plans accordingly.

Alternatives

• Traditional tissue biopsies, which are more invasive but can provide additional contextual information about the tumor.
• Imaging techniques, which might miss genetic details but help visualize the tumor’s size and location.
• Other types of genetic tests that might focus on fewer genes but are sometimes quicker or more accessible.

Patient Experience

• During the procedure, patients will typically only feel a quick prick from the needle.
• After the blood draw, there may be minor discomfort or bruising at the puncture site.
• Emotional support and counseling might be necessary, given the implications of genetic testing results. Pain management is generally not required due to the minimally invasive nature of the blood draw.

By understanding the different aspects of the Targeted Genomic Sequence Analysis Panel, patients can make informed decisions in collaboration with their healthcare providers.