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Genetic Counseling for Clinical Sequencing: Addressing Variants of Uncertain Significance in Rare Disease Diagnosis

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Genetic Counseling
  • Secondary Categories:
    • Genetic Counseling
Introduction:
With advancements in Next Generation Sequencing (NGS) technology, the accuracy of genetic testing for disease diagnosis has improved, accessibility has increased, and costs have gradually decreased. Against this backdrop, clinical sequencing tests, such as Whole Genome Sequencing (WGS) or Whole Exome Sequencing (WES), are being introduced for patients with rare diseases and undiagnosed conditions, as well as their families. Clinical sequencing offers various benefits including early disease detection and personalized medicine. However, despite guidelines provided by the American College of Medical Genetics (ACMG), the interpretation of test results varies across countries due to ethical and regulatory factors and presents challenges such as psychosocial burdens. Therefore, professional genetic counseling is essential to effectively convey and facilitate understanding of the extensive information generated by clinical sequencing for patients and their families.

Methods:
This study investigated the clinical sequencing test results counseled by the Korea Foundation for Rare Diseases from 2022 to 2023. Clinical sequencing results were reviewed for each case, focusing on the frequency and characteristics of identified Variants of Uncertain Significance (VUS), and analyzed to assess the role of genetic counseling in interpreting and communicating these findings.

Results:
Out of a total of 42 cases, 9 patients (17.31%) were found to have VUS variants, with a total of 37 identified VUS variants, up to 6 variants per patient. The frequency and distribution of VUS were documented, highlighting cases where parental VUS results contributed to interpreting the patient’s clinical significance.

Conclusion:
Through this investigation, we aim to examine the direction of genetic counseling regarding clinical sequencing results in medical institutions and advocate for the necessity of reporting VUS, particularly. Although VUS cannot currently be used to make diagnostic or preventive clinical decisions based on known information alone, understanding whether parents carry VUS can aid in interpreting the clinical significance for patients. Furthermore, periodic genetic counseling is required for VUS variants, as they may be reclassified based on new information in the future.

Agenda

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