The diagnosis of hematologic diseases has transitioned from traditional morphology-based methods to molecular diagnostics. Simultaneously, the treatment of these diseases has also moved from traditional chemotherapy to precision therapy, particularly molecular targeting. Therefore, precision diagnosis and treatment represent a significant direction for the development of hematologic diseases. The Fourth China Hematology Development Conference was held in Tianjin from January 5 to 7, 2024. On this occasion, Professor ZhiJian Xiao , the Deputy Director of the Hematology Hospital of the Chinese Academy of Medical Sciences (Institute of Hematology, CAMS), shared his thoughts on the current state and considerations of precision diagnosis for hematologic diseases in China in an interview.

“Oncology Frontier – Hematology Frontier“: As China’s population ages, the incidence of myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN) is rising annually. As an expert deeply involved in MDS, MPN, and other myeloid malignancies, could you discuss the current state of diagnosis and treatment in the MDS/MPN field in China?

Professor ZhiJian Xiao : Currently, there has been a significant improvement in the understanding of precision diagnosis for MDS/MPN in China, and a series of projects like COMPASS have been initiated to promote the standardization and homogenization of diagnosis and treatment. However, there is still a gap between China and international levels. Firstly, although molecular diagnostics are widely implemented nationwide, there’s a need for improvement in standardization of testing methods, interpretation of results, and clinical application by physicians. Secondly, precision diagnosis relies on a multidisciplinary team (MDT) approach, which requires not only laboratory physicians and clinicians but also professional genetic counselors, a role currently scarce in China. Overall, China still has a long way to go in precision diagnosis and treatment in the MDS/MPN field.

“Oncology Frontier – Hematology Frontier“: This year’s China Hematology Development Conference featured a forum on precision diagnosis and frontier of laboratory medicine in hematologic diseases. As the chair of this forum, could you highlight some of its key points?

Professor ZhiJian Xiao : In the precision diagnosis forum, the first highlight was the advancement in diagnostic concepts and methods. Previously, hematologic disease diagnosis relied mainly on observing cell morphology (phenotype), but now it emphasizes comprehensive diagnosis based on immunohistochemistry, cytogenetics, and molecular biology (genotype). From using biomarkers in omics methods, there has been a shift to single-cell sequencing, which allows for a clearer observation of disease evolution. The emergence of cutting-edge technologies like proteomics, epigenomics, and spatial transcriptomics provides more information for diagnosis, prognosis, and treatment of diseases. These technologies represent the future direction of hematologic disease research.

In the frontier of laboratory medicine, artificial intelligence (AI) garnered the most attention. AI has enormous potential in the diagnosis of hematologic diseases, not only in integrating various test results but also in technologically enhancing traditional testing methods. The forum innovatively discussed the application of distributed control systems (DCS) in laboratory medicine. Another highlight was the laboratory-developed tests (LDTs). LDTs are relatively mature in Europe and America, and although China has already established relevant construction documents and pilot units, many issues remain for clinical implementation, such as cost management and coordination among multiple departments. Renowned domestic experts in LDTs were specially invited to discuss the challenges and development directions in building China’s LDTs, aiming to ground more advanced and efficient diagnostic methods.

“Oncology Frontier – Hematology Frontier“: With the advent of the era of precision medicine, providing accurate clinical information using new technologies and methods is a trend in medical testing. Precision medicine is predicated on precise diagnosis. What impact do you think precise diagnosis has on precision therapy?

Professor ZhiJian Xiao : The key to precise diagnosis lies in technology. Initially, gene sequencing seemed far from clinical application. However, genetic diagnosis has now surpassed traditional morphological diagnostics, completely changing the direction of hematologic disease diagnosis and incorporating molecular genetic parameters into disease prognosis assessment. In the future, small molecule targeted therapies will continue to be a primary development direction for malignant hematologic diseases, which will increasingly depend on precise diagnostic technologies to guide clinical treatment strategies.

“Oncology Frontier – Hematology Frontier“: In the context of precision medicine, could you discuss the future development direction of the Hematopathology Diagnostic Center at the Hematology Hospital of the Chinese Academy of Medical Sciences?

Professor ZhiJian Xiao : Firstly, focus should be placed on the application of AI in laboratory medicine. Last year, our center published several preliminary studies on AI in laboratory medicine and participated in the establishment of a Chinese expert consensus. In the future, our research will be dedicated to combining AI with traditional pathology slides and various testing technologies, exploring broader application fields.Secondly, to promote the implementation of LDTs in China, our center has completed the translation of international LDT management documents and plans to adapt and localize these management systems to suit Chinese conditions and apply them to China’s LDT construction. As part of the Hematology Hospital of the Chinese Academy of Medical Sciences, our center has the responsibility and duty to lead China’s standardization, homogenization, and normalization in hematology, particularly in diagnostics, with the hope of soon aligning with international top-tier research centers. This is the direction we strive for in the future.

Professor ZhiJian Xiao

  • Deputy Director of the Hematology Hospital of the Chinese Academy of Medical Sciences (Institute of Hematology, CAMS), Director of the MDS Treatment Center, Director of the Hematopathology Diagnostic Center
  • Chief Physician, Professor, Doctoral Supervisor
  • Vice Chairman of the Hematology Branch of the Chinese Medical Association
  • Leader of the Leukemia and Lymphoma Group of the Hematology Branch of the Chinese Medical Association
  • Main research focus on myeloid tumors, especially the pathogenesis and clinical treatment strategies of myelodysplastic syndromes and myeloproliferative neoplasms
  • Recipient of titles such as “National Candidate for the New Century Talents Project,” “Young and Middle-aged Expert with Outstanding Contributions” by the Ministry of Health, “Government Special Allowance Expert” by the State Council, and “National Outstanding Science and Technology Worker”
  • Deputy Editor of the “Chinese Journal of Hematology,” “International Journal of Transfusion and Hematology,” and “Leukemia & Lymphoma” magazines, Editorial Board Member of “Blood Review,” “Gene, Chromosomes and Cancer,” and other journals.