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Background <p>China currently lacks unified reporting standards for genetic newborn screening (gNBS), resulting in substantial variation in report content, structure, and variant interpretation across laboratories. This study aims to evaluate the quality of gNBS reports nationwide and provide practical evidence to support the development of standardized reporting guidelines.</p> Methods <p>Through an external quality assessment (EQA) program organized by the National Center for Clinical Laboratories (NCCL), we collected reports generated by 34 laboratories for three bioinformatically simulated samples. A structured questionnaire, panel comparison, and content evaluation were employed to systematically assess differences in gene panel composition, consistency in variant detection and classification, approaches to distinguishing primary and secondary findings, completeness of key report elements, and the scope of genetic counseling recommendations.</p> Results <p>The number of genes included in screening panels varied substantially across laboratories, with only about one-third demonstrating high inter-laboratory similarity. Most laboratories achieved good consistency in detecting primary variants and classifying their pathogenicity, whereas considerable discrepancies were observed in the reporting of secondary findings, evidence grading, and specific descriptive details. Some reports lacked essential information, including testing purpose, laboratory signature, and submitting institution. Although most laboratories provided genetic counseling recommendations, these suggestions were generally not comprehensive.</p> Conclusion <p>The gNBS reports in China exhibit a certain degree of consistency in presenting core information, yet further standardization is needed to improve report structure and completeness. This study provides practical support for developing unified reporting standards and highlights areas where observed variability may guide mutual learning and quality improvement across laboratories.</p>

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Quality and consistency of genetic newborn screening reports in China: insights from a multi-laboratory analysis using simulated samples

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月3日

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  • Jiaming Wu,
  • Penghui Feng,
  • Jinming Zhang,
  • Honghui Zhou,
  • Weijie Tian,
  • Xingtong Chen,
  • Chongyi Hao,
  • Falin He

摘要

Background

China currently lacks unified reporting standards for genetic newborn screening (gNBS), resulting in substantial variation in report content, structure, and variant interpretation across laboratories. This study aims to evaluate the quality of gNBS reports nationwide and provide practical evidence to support the development of standardized reporting guidelines.

Methods

Through an external quality assessment (EQA) program organized by the National Center for Clinical Laboratories (NCCL), we collected reports generated by 34 laboratories for three bioinformatically simulated samples. A structured questionnaire, panel comparison, and content evaluation were employed to systematically assess differences in gene panel composition, consistency in variant detection and classification, approaches to distinguishing primary and secondary findings, completeness of key report elements, and the scope of genetic counseling recommendations.

Results

The number of genes included in screening panels varied substantially across laboratories, with only about one-third demonstrating high inter-laboratory similarity. Most laboratories achieved good consistency in detecting primary variants and classifying their pathogenicity, whereas considerable discrepancies were observed in the reporting of secondary findings, evidence grading, and specific descriptive details. Some reports lacked essential information, including testing purpose, laboratory signature, and submitting institution. Although most laboratories provided genetic counseling recommendations, these suggestions were generally not comprehensive.

Conclusion

The gNBS reports in China exhibit a certain degree of consistency in presenting core information, yet further standardization is needed to improve report structure and completeness. This study provides practical support for developing unified reporting standards and highlights areas where observed variability may guide mutual learning and quality improvement across laboratories.