Increased incidence of congenital hypothyroidism in China: An analysis of 119 million screened newborns.

Despite the lack of nationwide epidemiological studies, congenital hypothyroidism (CH) incidence in China has increased. We aimed to evaluate the trends of CH and the possible reasons behind them. Data from screened newborns from the Chinese Newborn Screening Information System from 2012 to 2019 was collected. We applied the Bayesian hierarchical Poisson regression model and meta-analysis to estimate incidence or proportion over the years. The estimated CH incidence increased from 4.01 per 10,000 births in 2012 to 5.77 per 10,000 births in 2019. The average annual growth rate (ARG) of CH incidence for all provinces varied from 0.59 to 20.96%. The most rapid rise in incidence was observed in cases with an initial thyroid stimulating hormone (TSH) concentration of < 10 mIU/L. The meta-analysis results showed that the proportion of permanent CH increased by 0.024% (95%CI: 0.011%, 0.037%) annually. Each 1 mIU/L decrease in TSH cutoff value was associated with a 2.96% increase in CH incidence. In the same period, the proportion of premature CH cases increased from 6.60 to 9.10%, which was much higher than the increase in preterm births. A significant relationship was not found between provincial growth rates in screening coverage and provincial baseline incidences of CH.  Conclusion: CH incidence has substantially increased in China. The slight adjustment of the TSH cutoff value and increasing preterm birth rate contribute to such a trend; however, the contribution is limited. What is Known: • An uptrend in congenital hypothyroidism (CH) incidence has been reported in many European and American countries in the last two decades; however, no studies have been conducted in China to explain the increased CH incidence. • We provide a detailed epidemiological report on the trends of CH during 2012-2019 in China, with an attempt to explore the reasons behind it. What is New: • This first-ever national-wide epidemiological report in China showed an uptrend in CH incidence with variations over regions and CH subtypes. The mild lowering of TSH cutoff values and the increasing preterm birth rate contributed to this uptrend.

Global prevalence of congenital hypothyroidism among neonates from 1969 to 2020: a systematic review and meta-analysis.

Little is known about the global prevalence of congenital hypothyroidism (CH), though it is known to vary across countries and time periods. This meta-analysis aims to estimate the global and regional prevalence of CH among births between 1969 and 2020. PubMed, Web of Sciences, and Embase databases were searched for relevant studies between January 1, 1975, and March 2, 2020. Pooled prevalence was calculated using a generalized linear mixed model, and expressed as a rate per 10,000 neonates. The meta-analysis involved 116 studies, which analyzed 330,210,785 neonates, among whom 174,543 were diagnosed with CH. The pooled global prevalence of CH from 1969 to 2020 was 4.25 (95% confidence interval (CI) 3.96-4.57). The geographic region with highest prevalence was the Eastern Mediterranean (7.91, 95% CI 6.09-10.26), where the prevalence was 2.48-fold (95% CI 2.04-3.01) that in Europe. The national income level with the highest prevalence was upper-middle (6.76, 95% CI 5.66-8.06), which was 1.91-fold (95% CI 1.65-2.22) that in high-income countries. Global prevalence of CH was 52% (95% CI 4-122%) higher in 2011-2020 than in 1969-1980, after adjusting for geographic region, national income level, and screening strategy.  Conclusion: The global prevalence of CH increased from 1969 to 2020, which may reflect the implementation of national neonatal screening, neonatal testing for thyroid-stimulating hormone, and a lowering of the diagnostic level of this hormone. Additional factors are likely to be driving the increase, which should be identified in future research. What is Known: • Cumulated evidence had suggested that the occurrences of congenital hypothyroidism (CH) among newborns were varied in different countries.. • Up-trends of the birth prevalence of CH were observed in many European and American countries. What is New: • This is the first meta-analysis to estimate global and regional prevalence of CH among newborns. • The global prevalence of CH has increased by 127% since 1969. The Eastern Mediterranean has the highest prevalence and stands out with the most pronounced escalation in the prevalence of CH.

Non-invasive prenatal testing for the detection of trisomies 21, 18, and 13 in pregnant women with various clinical indications: A multicenter observational study of 1,854,148 women in China.

OBJECTIVE: This study aimed to evaluate the performance of noninvasive prenatal testing (NIPT) for detecting three common trisomies (T21, T18, and T13) in pregnant women with diverse clinical indications. METHODS: Frequencies of NIPT, of high chance of having one of the three trisomies, and of confirmed trisomies were determined for women with each of seven clinical indications in a national cross-sectional survey of approximately 300 prenatal diagnosis centers. Data were collected for the period from October 1, 2016 to September 30, 2018 using the Prenatal Diagnosis Technology Management On-line Information System. The performance of NIPT for detecting the three trisomies in pregnant women with different clinical indications was assessed in terms of sensitivity, specificity, positive predictive value (PPV), negative predictive value, and the corresponding 95% confidence intervals. RESULTS: A total of 5766 true positive cases for T21, T18, and T13 were detected among 1,854,148 samples, giving an overall detection rate of 0.31% (95% CI: 0.30%-0.32%). Most positive cases were associated with "NT thickening" (1.18%) and "advanced maternal age" (0.51%). The detection sensitivities of NIPT were 99.60% for T21, 99.14% for T18, and 100% for T13, while the corresponding specificities were 99.90%, 99.94%, and 99.95%. The corresponding PPVs were 69.77%, 47.24%, and 22.36%. NIPT showed high sensitivity and specificity, regardless of clinical indication. In contrast, PPV for three trisomies varied widely between 9.09% and 66.46% depending on the clinical indication. Across seven clinical indications, PPV ranged from 50.62% to 73.09% for T21, 20.00%-58.33% for T18, and 4.17%-47.37% for T13. The highest PPVs were 73.09% for T21 in pregnancies involving "advanced maternal age", 58.33% for T18 in pregnancies with "NT thickening", and 47.37% for T13 in pregnancies with "NT thickening". CONCLUSIONS: NIPT shows high sensitivity and specificity for detecting T21, T18, and T13 in pregnant women with different clinical indications. However, PPV depends strongly on clinical indication, highlighting the need to strengthen education and genetic counseling about prenatal screening.

Communicable disease mortality trends and characteristics of infants in rural China, 1996-2015.

BACKGROUND: More attention should be paid to communicable disease-specific infant mortality rate (CD-IMR) in rural China. However, few studies have examined specific geographic patterns and trends in CD-IMR in these areas. Our aims were to assess the epidemiological distribution and trends in CD-IMR in rural China for the period 1996-2015. METHODS: We used data from China's Under-5 Child Mortality Surveillance System (U5CMSS). The time trends in communicable disease-specific IMR (CD-IMR) were assessed by Poisson regression model, and the proportion of total infant deaths due to communicable disease was assessed by the Cochran Armitage trend test. Differences in CD-IMR among and within geographic regions were assessed for significance using the Cochran-Mantel-Haenszel test. RESULTS: The overall CD-IMR fell by 86.0% from 1444.3 to 201.5 per 100,000 live births in rural mainland China from 1996 to 2015. The proportion of total infant deaths related to communicable disease fell from 33.4 to 19.7%. Using eastern rural areas as the reference, rate ratios (RRs) of IMR due to all communicable diseases ranged between 1.7 and 3.1 in central rural areas and between 4.4 and 9.8 in western areas during the four study intervals. Acute respiratory infection (ARI) accounted for 71% of deaths, followed by diarrhea and septicemia. CONCLUSIONS: IMR due to communicable disease remains a major public health issue. ARI is the leading cause of mortality, followed by diarrhea. A regional gap remains in the risk of infant exposure to communicable disease in rural China. More attention should be paid to western rural areas.

Newborn hearing screening coverage and detection rates of hearing impairment across China from 2008-2016.

BACKGROUND: Newborn hearing screening (NHS) can reduce the economic and social burden of hearing impairment. To track the progress of the goal set by the National Program of Action for Child Development (NPACD) and to estimate the detection rates of hearing impairment, the present study examined NHS coverage in 2008-2010 and 2016 and the detection of hearing impairment across China in 2016. METHODS: Licensed medical institutions across China were surveyed in 2012 and 2018 by the National Center for Birth Defects Monitoring of China to collect data for the 2008-2010 period and for 2016 on live births, initial screening rates (total and referral), secondary screening rates (total and referral), and rates of hearing impairment diagnosis among infants who were referred in the secondary screening. To calculate universal newborn hearing screening (UNHS) coverage, the number of newborns who received NHS within 4 weeks after birth was divided by the number of live births. The detection rate of hearing impairment was calculated by combining referral rates on primary and secondary screening with the rate of diagnosis. RESULTS: National UNHS coverage increased from 29.9% in 2008 to 86.5% in 2016, with different regions showing different increases. During this period, the number of provinces with UNHS coverage over 90.0% increased from 2 to 17, with UNHS coverage in 2016 being substantially higher in eastern provinces (93.1%) than in western provinces (79.4%). In 2016, the detection rate of hearing impairment across the country was 0.23% (95% CI 0.15-0.25%), and it varied from 0.17% in western provinces to 0.22% in central provinces and 0.28% in eastern provinces. The lowest rate was 0.02% in Heilongjiang Province and the highest rate was 0.63% in Hainan Province. CONCLUSIONS: National UNHS coverage increased substantially from 2008 to 2016, although provinces and regions still showed differences. The detection rate of infant hearing impairment in China is comparable to that in other countries. A national individual-level information system is urgently needed in China to facilitate the integration of screening, diagnosis and treatment of infant hearing impairment, which may also lead to a more accurate estimate of the detection rate.

Injury-related mortality among children younger than 5 years in China during 2009-2016: an analysis from national surveillance system.

BACKGROUND: Epidemiology in injury-related mortality among children younger than 5 years was unreported in China recently. METHODS: Data were obtained from China's Under 5 Child Mortality Surveillance System (U5CMSS) in 2009-2016. Injury-related mortality rates were calculated by residence, age-group, gender and major injury type (drowning, traffic injuries, suffocation, poisoning, falls). The average annual decline rate (AADR) was calculated based on the annual mortality rates by Poisson regression and the relative risk (RR) between urban and rural residence was examined based on the rates of two years for each time point by Cochran-Mantel-Haenszel method. RESULTS: U5CMSS contained 6503 injury-related deaths of children younger than 5 years during the study period, of which 58.6% were male, 86.0% occurred in rural areas, 65.7% were children aged 12-59 months. Deaths were mainly attributed to suffocation (34.3%), drowning (29.6%), traffic injuries (17.7%), falls (7.2%) or poisoning (4.7%). The injury-related mortality rate dropped from 274.7 to 189.2 per 100 000 live births from 2009 to 2016, giving an AADR of 4.53% (95% CI 3.50% to 5.55%). During 2009-2016, the injury-related mortality rate in rural area was higher than that in urban area, the adjusted RRs (aRRs) in infants and children aged 12-59 months were 3.32-6.04 and 4.31-5.49, respectively. CONCLUSION: The rate of injury-related deaths in children younger than 5 years has decreased in China, but it remains high and strong urban-rural disparities still exist. Public health programmes and policy interventions should focus particularly on suffocation among infants and on drowning and traffic injuries among children aged 12-59 months, especially in rural areas.

Association of maternal disease and medication use with the risk of congenital heart defects in offspring: a case-control study using logistic regression with a random-effects model.

Objective To examine the association between maternal diseases and congenital heart defects (CHDs) and to evaluate whether those associations vary with corresponding medication use. Methods A multi-hospital case-control study conducted from February 2010 to December 2014 analysed 916 controls and 1236 cases. Participating mothers were asked whether they suffered from influenza, common cold, herpes and threatened abortion or had used corresponding medication during the periconception period or the early pregnancy period. We used a random-effects logistic regression model to compute the odds ratios (ORs), adjusted odds ratios (AORs) and 95% confidence intervals (CIs) while controlling for potential confounders. Results Compared with the results for mothers with no exposure, there were significant associations between maternal diseases with medication non-use and CHDs in the aggregate, including influenza (AOR, 1.83; 95% CI, 1.13-2.95), common cold (AOR, 2.05; 95% CI, 1.60-2.64) and herpes (AOR, 7.00; 95% CI, 2.15-22.84). There was no significant association between medication users and offspring with any subtype of CHDs, except that maternal common cold with medication use slightly increased the risk of the specific subtype, namely, isolated cardiac defects. However, an association was observed between maternal threatened abortion and medication and isolated cardiac defects (AOR, 1.33; 95% CI, 1.01-1.75). Conclusion Maternal influenza, common cold, herpes and threatened abortion from 3 months before pregnancy through the first trimester were associated with an increased risk of congenital heart disease in offspring. The teratogenic effect of these conditions may be attenuated by medication use, except for threatened abortion.

[Tree-Augmented NaÏve Bayesian network model for predicting prostate cancer].

OBJECTIVE: To evaluate the integrated performance of age, serum PSA, and transrectal ultrasound images in the prediction of prostate cancer using a Tree-Augmented NaÏve (TAN) Bayesian network model. METHODS: We collected such data as age, serum PSA, transrectal ultrasound findings, and pathological diagnoses from 941 male patients who underwent prostate biopsy from January 2008 to September 2011. Using a TAN Bayesian network model, we analyzed the data for predicting prostate cancer, and compared them with the gold standards of pathological diagnosis. RESULTS: The accuracy, sensitivity, specificity, positive prediction rate, and negative prediction rate of the TAN Bayesian network model were 85.11%, 88.37%, 83.67%, 70.37%, and 94.25%, respectively. CONCLUSIONS: Based on age, serum PSA, and transrectal ultrasound images, the TAN Bayesian network model has a high value for the prediction of prostate cancer, and can help improve the clinical screening and diagnosis of the disease.

[Diagnosis Values of Back Propagation Neural Network Integrating Age, Transrectal Ultrasound Characteristics and Serum PSA for Prostate Cancer].

OBJECTIVE: To explore the diagnosis value of back propagation (BP) neural network integrating age, transrectal ultrasound characteristics and serum prostate specific antigen (PSA) for prostate cancer. METHODS: The data of age, PSA, and transrectal ultrasound characteristics were collected from 941 patients who received color doppler transrectal ultrasound scan and systemic biopsies of prostates. A prostate cancer diagnosis system of BP neural network with age, transrectal ultrasound characteristics and serum PSA was developed in MATLAB software, and its diagnostic value for prostate cancer was analyzed based on the pathological results of prostatic biopsy. RESULTS: The biopsy results confirmed 358 cases of prostate cancer (38.04%) and 583 cases noncancerous prostate diseases (61.96%). The sensitivity, specificity, accuracy, positive value and negative predictive value of BP neural networks for prostate cancer diagnosis were 78.57%, 92.94%, 87.23%, 88.00% and 86.81% respectively. CONCLUSION: Back propagation neural network with age, transrectal ultrasound characteristics and PSA shows good diagnosis value for prostate cancer.

Birth prevalence of tetrahydrobiopterin deficiency in China: data from the national newborn screening program, 2013-2019.

BACKGROUND: Tetrahydrobiopterin deficiency (BH4D), a less common form of hyperphenylalaninemia (HPA), can lead to severe developmental retardation if untreated. Little has been reported on the prevalence of BH4D among live births worldwide. This study examined its prevalence across China and between geographical areas within the country. METHODS: We analyzed data from the Chinese national screening program for HPA in newborns between 2013 and 2019. BH4D prevalence was examined by province, region and the entire country. Provincial-level prevalence was estimated from the number of confirmed BH4D cases and screened newborns, after adjusting for HPA-positive recall rate. Regional- and national-level prevalences were estimated by summing provincial-level prevalences after weighting them by the number of live births. A Poisson distribution was assumed in order to calculate 95% confidence intervals (CIs) for prevalence. RESULTS: Among 107,078,115 newborns screened for HPA in China, 380 with BH4D were identified, corresponding to a total prevalence of 3.8 per 1,000,000 live births. Prevalence was higher in eastern regions (5.9 per 1,000,000) and northern regions (4.1 per 1,000,000) of China than in southern regions (1.6 per 1,000,000) or northwestern regions (1.7 per 1,000,000). Across the entire country, 3.9% cases of HPA were diagnosed as BH4D, and this proportion reached as high as 15.1% in the southern part of the country. CONCLUSIONS: These first insights into BH4D prevalence across China suggest slightly higher prevalence than in other countries, and it varies substantially by region. More attention should be paid to early diagnosis and timely treatment of BH4D.

Geographic variations in the incidence of congenital hypothyroidism in China: a retrospective study based on 92 million newborns screened in 2013-2018.

BACKGROUND: Although congenital hypothyroidism (CH) has been widely studied in Western countries, CH incidence at different administrative levels in China during the past decade remains unknown. This study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China, which could be helpful in the planning and implementation of preventative measures. METHODS: The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese Newborn Screening Information System. Spatial auto-correlation was analyzed by Global Moran I and Getis-Ord Gi statistics at the provincial level. Kriging interpolation methods were applied to estimate a further detailed spatial distribution of CH incidence at city level throughout the mainland of China, and Kulldorff space scanning statistical methods were used to identify the spatial clusters of CH cases at the city level. RESULTS: A total of 91,921,334 neonates were screened from 2013 to 2018 and 42,861 cases of primary CH were identified, yielding an incidence of 4.66 per 10,000 newborns screened (95% confidence interval [CI]: 4.62-4.71). Neonates in central (risk ratio [RR] = 0.84, 95% CI: 0.82-0.85) and western districts (RR = 0.71, 95% CI: 0.69-0.73) had lower probability of CH cases compared with the eastern region. The CH incidence indicated a moderate positive global spatial autocorrelation (Global Moran I value = 0.394, P  < 0.05), and the CH cases were significantly clustered in spatial distribution. A most likely city-cluster (log-likelihood ratio [LLR] = 588.82, RR = 2.36, P  < 0.01) and 25 secondary city-clusters of high incidence were scanned. The incidence of each province and each city in the mainland of China was estimated by kriging interpolation, revealing the most affected province and city to be Zhejiang Province and Hangzhou city, respectively. CONCLUSION: This study offers an insight into the space clustering of CH incidence at provincial and city scales. Future work on environmental factors need to focus on the effects of CH occurrence.

Incidence of inborn errors of metabolism detected by tandem mass spectrometry in China: A census of over seven million newborns between 2016 and 2017.

BACKGROUND: The incidence of inborn errors of metabolism varies widely across countries. Very few studies have analyzed the incidence of these disorders in Mainland China. We aimed to estimate the overall and disease-specific incidences of inborn errors of metabolism in Chinese newborns and investigate the geographical distribution of these disorders. METHODS: A national cross-sectional survey was conducted to investigate newborn inborn errors of metabolism screening by tandem mass spectroscopy in Mainland China between 2016 and 2017. A total of 246 newborn screening centers were surveyed using a standardized questionnaire. We examined the cumulative and disease-specific incidences of inborn errors of metabolism in Mainland China as a whole and in different geographical locations. RESULTS: Over 7 million newborns were screened and 2747 were diagnosed with inborn errors of metabolism, yielding an overall incidence of 38.69 per 100,000 births (95% confidence interval: 37.27-40.17). The most common disorders were amino acid disorders (17.14 per 100,000 births, 95% confidence interval: 16.21-18.13), followed by organic acid disorders (12.39 per 100,000 births, 95% confidence interval: 11.60-13.24) and fatty acid oxidation disorders (9.16 per 100,000 births, 95% confidence interval: 8.48-9.89). The overall and disease-specific incidence rates differed significantly across geographical locations (P < 0.001). CONCLUSIONS: The overall incidence of inborn errors of metabolism in Chinese newborns is relatively high. It is urgent to establish the recommended uniform screening panel for inborn errors of metabolism to guide the national and regional tandem mass spectroscopy newborn screening programs.

Phenylketonuria incidence in China between 2013 and 2017 based on data from the Chinese newborn screening information system: a descriptive study.

OBJECTIVE: This study examines the incidence and spatial clustering of phenylketonuria (PKU) in China between 2013 and 2017. METHODS: Data from the Chinese Newborn Screening Information System were analysed to assess PKU incidence with 95% CIs by province, region and disease severity. Spatial clustering of PKU cases was analysed using global and local spatial autocorrelation analysis in the geographic information system. RESULTS: The database contained 4925 neonates with confirmed PKU during the study period, corresponding to an incidence of 6.28 (95% CI: 6.11 to 6.46) per 100 000 neonates screened. Incidence was highest in the provinces of Gansu, Ningxia and Qinghai, where it ranged from 19.00 to 28.63 per 100 000 neonates screened. Overall incidence was higher in the northern part of the country, where classical disease predominated, than in the southern part, where mild disease predominated. PKU cases clustered spatially (global Moran's I=0.3603, Z=5.3097, p<0.001), and local spatial autocorrelation identified four northern provinces as high-high clusters (Gansu, Qinghai, Ningxia and Shanxi). CONCLUSIONS: China shows an intermediate PKU incidence among countries, and incidence differs substantially among Chinese provinces and between northern and southern regions. Our results suggest the need to focus efforts on screening, diagnosing and treating PKU in high-incidence provinces.

Telehealth attitudes and use among medical professionals, medical students and patients in China: A cross-sectional survey.

BACKGROUND: Telehealth aims to revolutionize health care by migrating health care from hospitals and satellite clinics directly into the home and onto mobile devices. Telehealth has the potential to increase public access to healthcare in China, where large segments of the population remain underserved, yet little is known about current attitudes and use of telehealth in the country. OBJECTIVE: Our aim was to determine attitudes and use of telehealth in China among medical professionals and patients, as well as identify factors that may affect its use. METHODS: Using a custom-designed questionnaire, we performed a cross-sectional survey of medical professionals, medical students and patients at three large hospitals in Chengdu, Sichuan, China. We used a structural model to analyze the influence of factors that may affect use of telehealth. RESULTS: Of 600 questionnaires that were distributed, 550 (96.49%) were analyzed. Most respondents (63.28%) were familiar with using telehealth to "schedule medical appointments/pay medical fees online", but relatively few (28.55%) used this feature. Nearly half of respondents were familiar with the concept of a "virtual visit" (46.18%), but only 12.18% had ever engaged in such visits. Medical professionals and students generally showed higher awareness and greater use of telehealth than patients. The strongest concern about telehealth among respondents was "authenticity and reliability of data from remote monitoring of patients" (75.17%). The proportion of respondents concerned about the potential disadvantages of telehealth was highest among students and lowest among patients. Awareness and use of telehealth were associated with previous experience with health-related use of the Internet and experience with traditional forms of telehealth, but not with social status or attitude toward telehealth. CONCLUSIONS: Medical professionals and patients alike in China have a high awareness of telehealth, primarily traditional forms of telehealth, but only a small percentage actually use it. Patients have much lower awareness and use of telehealth than medical professionals and medical students, though they have generally positive attitudes towards telehealth. Telehealth is still in its infancy in China, and the environment for its development is largely favorable among current and future medical professionals.

Prostate cancer prediction using the random forest algorithm that takes into account transrectal ultrasound findings, age, and serum levels of prostate-specific antigen.

The aim of this study is to evaluate the ability of the random forest algorithm that combines data on transrectal ultrasound findings, age, and serum levels of prostate-specific antigen to predict prostate carcinoma. Clinico-demographic data were analyzed for 941 patients with prostate diseases treated at our hospital, including age, serum prostate-specific antigen levels, transrectal ultrasound findings, and pathology diagnosis based on ultrasound-guided needle biopsy of the prostate. These data were compared between patients with and without prostate cancer using the Chi-square test, and then entered into the random forest model to predict diagnosis. Patients with and without prostate cancer differed significantly in age and serum prostate-specific antigen levels (P < 0.001), as well as in all transrectal ultrasound characteristics (P < 0.05) except uneven echo (P = 0.609). The random forest model based on age, prostate-specific antigen and ultrasound predicted prostate cancer with an accuracy of 83.10%, sensitivity of 65.64%, and specificity of 93.83%. Positive predictive value was 86.72%, and negative predictive value was 81.64%. By integrating age, prostate-specific antigen levels and transrectal ultrasound findings, the random forest algorithm shows better diagnostic performance for prostate cancer than either diagnostic indicator on its own. This algorithm may help improve diagnosis of the disease by identifying patients at high risk for biopsy.

Survey of Attitudes and Ethical Concerns Related to Gene Therapy Among Medical Students and Postgraduates in China.

Gene therapy is becoming an important treatment modality for gravely ill patients, and today's medical students and postgraduates are both potential consumers and future providers of gene therapy. Therefore, their attitudes and concerns about gene therapy may directly influence its long-term development and implementation in the clinic. We performed a cross-sectional survey of medical students and postgraduates at West China Medical School of Sichuan University. A custom-designed questionnaire was distributed to 600 students, and 579 were valid (96.98% response). Most respondents (84.46%) indicated little prior knowledge about gene therapy. The proportion of respondents considering gene therapy as acceptable ranged from 63.73% for serious illness to 17.72% for genetic enhancement. Adverse side effects were the most frequent concern among respondents when asked to imagine that they would receive gene therapy to treat a severe brain-related illness. These results suggest that medical students in China consider gene therapy's acceptability to be rather low, and are most concerned about its adverse side effects.