OBJECTIVE: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS: By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS: The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

Next generation sequencing (NGS) technology is playing an increasingly important role in the diagnosis of genetic diseases. Whole exome sequencing (WES), which targets the coding regions of the genome, has been widely used in the diagnosis of genetic diseases for its low cost and high efficiency. However, compared to conventional methods, the Next Generation Sequencing (NGS) process is intricate, and there is variability in the expertise of data analysts and variant interpreters, which may lead to inconsistencies in the outcomes. To ensure the quality of testing and enhance the diagnostic rate of diseases, this consensus has provided recommendations regarding the laboratory setup, operational procedures, data analysis, result interpretation, and quality control for WES, with an aim to standardize its application in the detection of genetic disorders.

Next generation sequencing (NGS) technology is playing an increasingly important role in the diagnosis of genetic diseases. Whole exome sequencing (WES), which targets the coding regions of the genome, has been widely used in the diagnosis of genetic diseases for its low cost and high efficiency. However, compared to conventional methods, the Next Generation Sequencing (NGS) process is intricate, and there is variability in the expertise of data analysts and variant interpreters, which may lead to inconsistencies in the outcomes. To ensure the quality of testing and enhance the diagnostic rate of diseases, this consensus has provided recommendations regarding the laboratory setup, operational procedures, data analysis, result interpretation, and quality control for WES, with an aim to standardize its application in the detection of genetic disorders.

The development of clinical practice guidelines for medical genetics and genomics specialty is a key step in translating basic and clinical genetic research into evidence-based and precision clinical services.This paper briefly expounds the principles of writing high-quality and trustworthy clinical practice guidelines.According to these principles,the management framework,writing process,review and revision procedures,and application monitoring of medical genetic specialty guidelines are described.Systematic review of relevant literature for evidence applicable to the screening,diagnosis,counseling,treatment and prevention of specific genetic diseases is summarized.Specific requirements for writing and reviewing highquality professional guidelines for medical genetics are introduced.These principles and requirements can ensure that the evidence-based methods and recommendations in the written guidelines conform to current international standards and have specific clinical purposes,scope of practice and time-tracking mechanism.Implementation of such guidelines can promote the translation of basic and clinical genetic research,promote cooperation of medical genetics and other clinical specialties and coordination of interdisciplinary clinical practice guidelines,and provide effective and safe clinical services for patients and their families.

Genetics, Medical ; Genomics ; United States

Objective To evaluate the clinical significance of bone marrow minimal residual disease (MRD) monitoring by multi-parameter flow cytometry (FCM) regularly after the first complete remission (CR1) in patients with acute myeloid leukemia (AML).Methods A total of 63 paitents with AML who had got CR1 after chemotherapy were regularly monitored for MRD in bone marrow by FCM,and MRD ≥ 10-4 was positive.According to the latest standards of National Comprehensive Cancer Network (NCCN) for disease risks,they were categorized into three groups:better risk group (20 cases),intermediate risk group (27 cases) and poor risk group (16 cases).The probability of continuous complete remission (CCR) was calculated by KaplanMeier formula,and the statistical difference between MRD positivc and MRD negative CCR probabilities was evaluated by log-rank test.Results The positive rates of MRD were 20％(4/20),30％(8/27) and 10/16 in better risk group,intermediate risk group and poor risk group respectively.The difference between better risk group and intermediate risk group had no statistical significance (P=0.454),and the difference between poor risk group and intermediate risk group had statistical significance (P =0.035).Twenty-two cases showed positive MRD,and 41 cases showed negative MRD.The probability of CCR at 24 and 36 months in MRD positive patients were 18％ (4/22),18％ (4/22),in MRD negative patients were 83％ (34/41),80％ (33/41),and there were significant differences (P ＜ 0.01).Conclusions The dynamic detection of MRD by FCM can be used to evaluate the therapeutic effect and prognosis of AML.MRD monitoring has important clinical significance and can help to adjust the intensity of chemotherapy,carry out individualized treatment,predict prognosis,and choose appropriate therapy.

Full thickness scalding of 37% TBSA was inflicted io rats. Three days later, the liver of the animals was isolated and the changes of the protein metabolism in the liver and the effects of insulin on the changes were evaluated.It was found that the protein and DMA levels of the liver showed no obvious changes after scalding, but the RNA content increased by 24% and the rate of leucine incorporation by 31%. After the addition of insulin, the leucine content increased by 23.% and 25.8% in the controls and the injured animals respectively. The results indicate that the rate of protein synthesis in the liver of the scalded animals increases, which is likely to be related to the increase of RNA content, and the liver protein synthesis remains to be sensitive to insulin.

This paper is to report the changes of the protein metabolism in the rat soleus muscle in vitro after 37% TBSA full-thickness burns covering one hindlimb and the effects of leucine and insulin on the burned muscle.It was found that there werea significant decreases of the protein content and marked exaggeration of the rates of tyrosine incorporation,tyrosine release and tyrosine net release in the burned muscle.No changes of the above-mentioned parameters could be revealed in the muscle of the unburned limb and the controls.Elevation of leucine concentration in the medium could not improve the protein metabolism of the burned muscle.0.1u/ml of insulin could significantly stimulate the tyrosine incorporation in the muscle of the unburned limb and the controls,but no similar effect was observed on the burned muscle.The results indicate that increased protein degradation of the local burned muscle is responsible for the postburn negative nitrogen balance;administration of leucine alone cannot improve the protein metabolism in the local burned muscle;and the sensivity of the burned muscle to insulin is suppressed.