Name of the Procedure:

PMS2 (Postmeiotic Segregation Increased 2 [S. cerevisiae]) Genetic Analysis for Known Familial Variants

Summary

This genetic test analyzes specific variants in the PMS2 gene, which can indicate an increased risk of hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome. By identifying known familial variants, doctors can assess a person's predisposition to this condition.

Purpose

Medical Condition or Problem Addressed:

Hereditary non-polyposis colorectal cancer (HNPCC) or Lynch syndrome, which increases the risk of colorectal and other types of cancer.

Goals or Expected Outcomes:

• Identification of known familial variants in the PMS2 gene.
• Early diagnosis and risk assessment for Lynch syndrome.
• Personalized management and prevention strategies for at-risk individuals.

Indications

Symptoms or Conditions:

• Family history of colorectal cancer or related cancers.
• Presence of cancer at a young age in family members.
• Previous genetic testing indicating possible Lynch syndrome.

Patient Criteria:

• Individuals with a family history of HNPCC/Lynch syndrome.
• Patients with known familial genetic variants.
• Those undergoing comprehensive genetic screening for cancer risk.

Preparation

Pre-Procedure Instructions:

• No fasting or medication adjustments are usually required.
• Patients may need to provide a family medical history.
• A blood or saliva sample is required for the test.

Diagnostic Tests or Assessments:

• Completion of a family history questionnaire.
• Possible prior genetic counseling session to discuss inherited cancer risk.

Procedure Description

1. A healthcare provider collects a blood or saliva sample from the patient.
2. The sample is labeled and sent to a laboratory specializing in genetic testing.
3. DNA is extracted and analyzed using molecular techniques to identify the presence of known familial variants in the PMS2 gene.

Tools and Technology:

• Lab equipment for DNA extraction and analysis.
• Molecular diagnostic tools like PCR and sequencing platforms.

Anesthesia or Sedation:

• Not applicable, as the procedure involves minimal discomfort.

Duration

• Sample collection takes about 5-15 minutes.
• Laboratory analysis can take several days to a few weeks, depending on the lab's workload.

Setting

• Outpatient clinic or genetic testing laboratory.

Personnel

• Phlebotomist or nurse for sample collection.
• Geneticists and lab technicians for sample analysis.
• Genetic counselor or physician for interpretation and discussion of results.

Risks and Complications

Common Risks:

• Minor discomfort or bruising at the sample collection site.

Rare Risks:

• Psychological impact of test results.

Complications:

• Misinterpretation of results, though this is rare with proper genetic counseling.

Benefits

• Early detection and management of cancer risk.
• Informed decisions about preventive measures, such as more frequent screenings.

Realization of Benefits:

• Patients can learn and implement preventive strategies soon after obtaining results.

Recovery

Post-Procedure Care:

• No specific post-procedure care needed; patients can resume normal activities immediately.

Recovery Time:

• Immediate recovery; no downtime required.

Follow-Up Appointments:

• Genetic counseling session to discuss results and next steps.

Alternatives

Other Treatment Options:

• Comprehensive genetic panel testing that includes multiple genes associated with cancer risk.
• Regular cancer screening without genetic testing.

Pros and Cons:

• Comprehensive panels may provide more information but can be costlier.
• Regular screening without genetic testing may miss early diagnostic opportunities.

Patient Experience

During the Procedure:

• Minor discomfort during sample collection.

After the Procedure:

• Little to no physical discomfort.
• Potential anxiety while waiting for results, which can be mitigated by counseling.

Pain Management and Comfort Measures:

• Sample collection is typically quick and minimally invasive, requiring only basic comfort measures like applying a cold pack for bruising, if necessary.