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

Objective To test the effects of TNF-α inhibitor Etanercept on myocardial ischemia/ reperfusion (MI/R) injury in posttraumatic mice,and explore related mechanisms.Methods Traumatic mouse model was established with Noble-Collip drum.Five days after trauma,Notch1 was knocked down by intramyocardial injection of Notch1 small interfering RNAs (siRNA) or scrambled siRNA (20 μg).Seven days after trauma,mice were subjected to MI/R (30 minutes ischemia followed by reperfusion).Sham operation was similarly performed without coronary artery ligation.Ten minutes before reperfusion,mice received Etanercept (8 mg/kg,i.p.).ELISA was used to detect plasma levels of TNF-α and troponin I (cTnI) and myocardial nitrotyrosine content.Twenty-four hours after reperfusion,left ventricular ejection fraction (LVEF) was measured by echocardiography.Infarct size was determined by Evans blue/2,3,5-triphenyl tetrazolium chloride (TTC) double staining.Cardiac caspase-3 activity was detected using a caspase-3 kit.Myocardial TNF-α and Notchl intracellular domains (Notch1 ICD) expressions were determined by Western blot.Chemiluminescence was used to assess myocardial superoxide anion content.Results (1) Compared to vehicle group,Etanercept treatment significantly reduced cTnl content,infarct size and caspase-3 activity (all P ＜0.01),while obviously increased LVEF (P ＜0.01).(2) Etanercept treatment also significantly reduced plasma and myocardial TNF-α contents (P ＜ 0.01),whereas markedly increased myocardial Notch1 ICD content (P ＜0.05).(3) Compared to scrambled siRNA group,Notch1 deficiency significantly increased cTnI content,infarct size and caspase-3 activity (P ＜ 0.05),whereas obviously reduced LVEF (P ＜ 0.05).(4) Etanercept significantly reduced myocardial superoxide anion and nitrotyrosine content (P ＜ 0.01),which was reversed by downregulation of Notch1 (P ＜ 0.05).Conclusions TNF-α inhibitor Etanercept can alleviate MI/R injury after trauma by reducing myocardial oxidative/nitrative stress via activating Notch1 signaling pathway.