Name of the Procedure:

Genomic Sequence Analysis Panel for Hereditary Breast Cancer-Related Disorders Common Names: Hereditary Cancer Panel, Genetic Testing for BRCA-Related Cancers

Summary

This procedure involves a detailed genetic analysis focused on identifying mutations in at least 10 genes, including BRCA1, BRCA2, CDH1, and MLH1, that are known to increase the risk of developing hereditary cancers such as breast, ovarian, and endometrial cancer.

Purpose

This test aims to:

• Identify genetic mutations associated with an increased risk of cancer.
• Guide personalized treatment plans and preventive measures.
• Inform family members about their potential risk for hereditary cancers.

Indications

• Individuals with a family history of breast, ovarian, or endometrial cancer.
• Patients with early-onset cancer diagnoses (typically before age 50).
• Those who have multiple family members with these cancers.
• Individuals from populations with higher prevalence of specific genetic mutations (e.g., Ashkenazi Jewish descent).

Preparation

• No specific physical preparation is required (e.g., no fasting or medication adjustments).
• A thorough family history and genetic counseling session are recommended before undergoing the test.
• Informed consent must be obtained after discussing potential results and their implications.

Procedure Description

1. Sample Collection: A blood or saliva sample is collected from the patient.
2. Lab Analysis: The sample is sent to a specialized laboratory where DNA is extracted and analyzed.
3. Sequencing: Next-generation sequencing (NGS) technology is used to read the genetic code of the targeted genes.
4. Interpretation: Genetic counselors and medical geneticists interpret the results, identifying any mutations that are associated with a higher cancer risk.

Duration

The sample collection takes approximately 15-30 minutes. Results are typically available within 3-6 weeks.

Setting

The initial sample can be collected in a variety of settings including hospitals, outpatient clinics, or specialized genetic testing facilities.

Personnel

• Phlebotomist or nurse (for sample collection).
• Genetic counselor (for pre- and post-test counseling).
• Medical geneticists and laboratory personnel (for analysis and interpretation).

Risks and Complications

• Physical risks are minimal as the procedure mainly involves blood or saliva collection.
• Psychological risks include anxiety or distress over test results.
• Potential for genetic discrimination; however, laws like GINA (Genetic Information Nondiscrimination Act) protect against this.

Benefits

• Early detection of genetic predispositions allows for proactive monitoring and preventive care.
• Informs personalized treatment plans for better outcomes.
• Provides vital information for family members who may also be at risk.

Recovery

• No physical recovery is needed post-procedure.
• Psychological support or genetic counseling is advised to help understand and cope with the results.

Alternatives

• Single-gene testing (e.g., testing for only BRCA1 and BRCA2 instead of a full panel).

  • Pros: Lower cost, focused analysis.
  • Cons: May miss mutations in other relevant genes.

• Non-genetic risk assessments (based on family history alone).

  • Pros: No medical procedure required.
  • Cons: Less precise than genetic testing.

Patient Experience

• Sample collection is generally straightforward and minimally invasive.
• Patients may feel anxious about the results and their implications but can seek support through genetic counseling.
• The procedure is generally painless apart from discomfort during blood sample collection.