Genomic Test Result Interpretation Note

A professional Clinical Geneticist template for healthcare professionals.

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Specialty

Clinical Geneticist

Used

17 times

Type

Note

Last edited

6/24/2025

Created by

Samuel Adedero

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About this template

The Genomic Test Result Interpretation Note is a comprehensive template designed for clinical geneticists to document and interpret genomic test results. This template is ideal for summarizing test details, results, and interpretations, including pathogenic variants, secondary findings, and variants of uncertain significance. It also covers the limitations of testing and provides recommendations for further action. Genetic counselling details are included to ensure thorough communication with patients. This template is essential for clinicians involved in genetic testing and counselling, providing a structured approach to managing complex genetic information.

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**Genomic Test Result Interpretation Note** **Test Details:** The test performed was a Next-Generation Sequencing (NGS) panel targeting 150 genes associated with hereditary cancer syndromes. The test was conducted by Genomics Lab on 1 November 2024, using a blood sample. Quality metrics indicated a 99% coverage at 20x depth. Reference number: G123456789. **Indication for Testing:** The genetic test was indicated due to a family history of breast and ovarian cancer, with the patient presenting with early-onset breast cancer. The test aimed to identify potential hereditary cancer predisposition variants. **Summary of Results:** The test identified a pathogenic variant in the BRCA1 gene (c.68_69delAG, p.Glu23Valfs*17) located on chromosome 17. The variant is classified as pathogenic according to ACMG guidelines and is diagnostic for hereditary breast and ovarian cancer syndrome. **Interpretation:** The BRCA1 variant detected is known to be associated with a significantly increased risk of breast and ovarian cancer. The patient's family history and early-onset breast cancer phenotype support the clinical significance of this finding. The variant's pathogenicity is well-documented in the literature. **Secondary/Incidental Findings:** No actionable secondary findings were identified in this test. **Variant of Uncertain Significance:** A VUS was detected in the ATM gene (c.7271T>G, p.Val2424Gly). Current literature and database annotations provide conflicting evidence regarding its clinical significance. Reclassification efforts are recommended as new data becomes available. **Limitations of Testing:** The test may not detect deep intronic variants or large structural rearrangements. Low coverage areas may exist, and not all gene-disease links are fully validated. **Recommendations:** Referral to a specialist in hereditary cancer syndromes is advised. Family cascade testing for the BRCA1 variant is recommended. Enhanced surveillance and management guidelines for breast and ovarian cancer should be discussed. **Counselling Provided:** Genetic counselling was provided to discuss the implications of the BRCA1 variant, including risk communication and family planning options. The patient was supported in informed decision-making regarding surveillance and preventive measures.