Prevalence and clinical significance of anti-SSA antibody in the Chinese health screening population.

Anti-SSA antibodies are non-organ-specific autoantibodies highly prevalent in various autoimmune diseases. This study primarily investigated the prevalence of anti-SSA antibodies in the health screening population. Additionally, we explored the clinical features of the anti-SSA antibody-positive population and evaluated the development of connective tissue diseases (CTD) over the years in individuals with anti-SSA antibodies for whom follow-up was available. 64045 individuals without a history of CTD from 2013 to 2022 who visited Peking Union Medical College Hospital for health screening were screened for autoimmune antibodies. 1.7% (1091/64045) of the Chinese health screening population were positive for anti-SSA antibodies, with a prevalence of 0.9% (290/33829) in men and 2.7% (801/30216) in women. Compared with matched autoantibody-negative controls, anti-SSA antibody-positive individuals had higher levels of serological abnormalities including erythrocyte sedimentation rate (ESR) [10 (6-15) mm/h vs. 7 (4-12) mm/h, p<0.0001], rheumatoid factor (RF) [7.15 (4.30-16.90) IU/ml vs. 5.00 (3.20-7.90) IU/ml, p<0.0001], and Immunoglobulin G [13.09 (11.20-15.45) g/L vs. 11.34 (9.85-13.18) g/L, p<0.0001], and lower levels of white blood cells (WBC) (5.49 ± 1.50 *109/L vs. 5.82 ± 1.49 *109/L, p<0.0001). Additionally, they had a higher proportion of coexisting thyroid autoantibodies, including anti-thyroid peroxidase antibodies (TPO-Ab) (17.1% vs. 11.3%, p<0.0001) and anti-thyroglobulin antibodies (Tg-Ab) (17.8% vs. 11.0%, p<0.0001). Among the 381 subjects who were anti-SSA positive and followed up for a median of 4.6 years, 146 (38.3%) individuals developed CTD, including 68 (17.8%) cases of primary Sjögren syndrome (pSS), 10 (2.6%) cases of rheumatoid arthritis (RA), 5 cases (1.3%) of systemic lupus erythematosus (SLE), and 59 (15.5%) cases of undifferentiated connective tissue disease (UCTD). 235 (61.7%) individuals did not develop CTD over a median time of 5.9 (2.9-8.1) years after the earliest autoantibody detection. Elevated ESR (>20 mm/h), RF positivity (>20 IU/ml), and female gender were identified as independent risk factors for CTD among the anti-SSAantibody-positive individuals. Anti-SSA antibodies were found in 17 among approximately 1000 individuals without a history of autoimmune diseases. Anti-SSA antibody-positive individuals are advised to periodically monitor thyroid function. Elevated ESR (>20 mm/h), female gender, and rheumatoid factor positivity may delineate a high-risk cohort for CTDs.

Alpha-Gal Syndrome: An Underrated Serious Disease and a Potential Future Challenge.

Over the past decades, red meat allergy, also known as mammalian meat allergy, which manifests differently from classic food allergies, has been reported in different countries and regions, including China. The allergen of this disease is not a protein but an oligosaccharide: galactose-α-1,3-galactose, i.e., alpha-gal or α-gal. Therefore, this clinical syndrome is also called α-gal syndrome (AGS). It clinically manifests as delayed anaphylaxis, i.e., patients generally develop allergic symptoms 2-6 h after ingesting red meat. This clinical manifestation is believed to be related to sensitization to α-gal after tick bites. Sensitized individuals may also develop anaphylaxis after ingesting food and medicine or being exposed to medical equipment containing α-gal, such as cetuximab and gelatin. Here, the literature on AGS is reviewed for a better understanding of its pathogenesis, clinical diagnosis, and treatment.

The top 100 most cited articles in the past 30 years of wheat allergy: a bibliometric analysis.

Background: Wheat allergy (WA), characterized by immunological responses to wheat proteins, is a gluten-related disorder that has become increasingly recognized in recent years. Bibliometrics involves the quantitative assessment of publications within a specific academic domain. Objectives: We aimed to execute an extensive bibliometric study, focusing on the past 30 years of literature related to wheat allergy. Methods: We searched the Web of Science database on 5th Dec 2023. We used the keywords "wheat allergy or wheat anaphylaxis or wheat hypersensitivity," "gliadin allergy or gliadin anaphylaxis or gliadin hypersensitivity," "wheat-dependent exercise-induced anaphylaxis," and "baker's asthma" for our search. All items published between 1993 and 2023 were included. The top 100 most cited articles were identified and analyzed. Results: Our study conducted an in-depth bibliometric analysis of the 100 most-cited articles in the field of wheat allergy, published between 2002 and 2019. These articles originated from 20 different countries, predominantly Japan and Germany. The majority of these articles were centered on the pathogenesis and treatment of wheat allergy (WA). The Journal of Allergy and Clinical Immunology (JACI) was the most prolific contributor to this list, publishing 14 articles. The article with the highest citation count was published by Biomed Central (BMC) and garnered 748 citations. The peak citation year was 2015, with a total of 774 citations, while the years 1998, 2001, and 2005 saw the highest publication frequency, each with 7 articles. Conclusion: Our study aims to provide physicians and researchers with a historical perspective for the scientific progress of wheat allergy, and help clinicians effectively obtain useful articles that have a significant impact on the field of wheat allergy.

Serum Aldo-Keto Reductase Family 1 Member B10 (AKR1B10) as a Potential Biomarker for Diagnosis of Hepatocellular Carcinoma.

Objective: To evaluate the diagnostic performance of aldo-keto reductase family 1 member B10 (AKR1B10) in a Beijing cohort with hepatocellular carcinoma (HCC). Methods: This study included 521 subjects who visited Peking Union Medical College Hospital from June 2017 to May 2023, including 109 cases of HCC, 165 cases of healthy controls, 106 cases of benign liver diseases, and 141 cases of other cancers. Serum AKR1B10 levels were measured and compared across various groups. Diagnostic performances of serum AKR1B10 and other tumor markers were assessed using receiver operator characteristic (ROC) curves. In addition, a subset of HCC patients who underwent surgical resection were recruited for clinical follow-up study. Results: We found that serum AKR1B10 expression was higher in patients with HCC relative to other control groups. The association between serum AKR1B10 and clinical features of HCC was not observed. Serum AKR1B10 showed a high diagnostic performance for HCC, and when combined with AFP, the diagnostic effectiveness was significantly improved. Specifically, serum AKR1B10 showed superior diagnostic effectiveness for AFP-negative HCC. The clinical follow-up study indicated a gradual decrease in serum AKR1B10 after surgery. Conclusion: Our study demonstrated that serum AKR1B10 is a promising biomarker for HCC, and when used in combination with AFP can significantly improve the detection rate of HCC.

Plasminogen Activator Inhibitor-1 4G/5G (rs1799889) Polymorphism in Chinese Patients with Diabetes Mellitus and Hypertension.

Objective: To determine the plasminogen activator inhibitor-1 (PAI-1) 4G/5G (rs1799889) genotype of the subjects in a robust detection method and to explore the association of the PAI-1 4G/5G polymorphism with susceptibility to diabetes mellitus (DM) and hypertension (HTN) as well as clinical characteristics. Methods: This study recruited 208 patients (68 patients were diagnosed with DM, 70 patients with HTN and 70 patients with DM combined with HTN) and 132 healthy controls (HC). A subset of the population was selected to evaluate the accuracy of the Real-time PCR (RT-PCR) method for detecting PAI-1 4G/5G polymorphism by using the sequencing method as the gold standard. Furthermore, the association of the PAI-1 4G/5G polymorphism with genetic susceptibility to DM and HTN was explored. Moreover, variations in clinical characteristics among individuals with various PAI-1 genotypes were also analyzed in the DM group, the HTN group and the DM+HTN group. Results: There was a high concordance between the RT-PCR method and the sequencing method in determining the PAI-1 4G/5G polymorphism. No association was observed between the PAI-1 4G/5G polymorphism and susceptibility to DM, HTN and DM+HTN, respectively. There were no statistical differences in all study indicators among individuals that carrying various genotypes in the HC group. There were several variations in clinical characteristics among individuals harboring different PAI-1 4G/5G genotypes in the DM group, the HTN group and the DM+HTN group. Conclusion: The RT-PCR method can accurately identify the PAI-1 4G/5G genotype in different individuals. The PAI-1 4G/5G polymorphism may not be associated with genetic susceptibility to DM, HTN and DM+HTN, but differences in clinical characteristics among individuals with various genotypes may provide a reference for disease assessment and personalized treatment of patients.

Predicting Diabetes in Patients with Metabolic Syndrome Using Machine-Learning Model Based on Multiple Years' Data.

Purpose: To evaluate the performance of machine-learning models based on multiple years of continuous data to predict incident diabetes among patients with metabolic syndrome. Patients and Methods: The dataset comprises the health records from 2008 to 2020 including 4510 nondiabetic participants with metabolic syndrome (MetS) at baseline and with at least 6 years of records. MetS was defined according to the International Diabetes Federation (IDF) criteria. Overall, 332 patients developed incident diabetes during the 7±1.4 years of follow-up. Three popular classification algorithms were evaluated on the dataset: logistic regression, random forest, and Xgboost. Five models including single-year models (year 1, year 2, and year 3) and multiple-year models (year 1-2 and year 1-3) were developed for each algorithm. Results: The model performances improved with the increasing longitudinal dataset as the area under the receiver operating characteristic curve (AUROC) was boosted for both random forest (year 1-3: AUROC=0.893; year 3: AUROC=0.862; year 1-2: AUROC=0.847; year 2: AUROC=0.838) and Xgboost (year 1-3: AUROC=0.897; year 3: AUROC=0.833; year 1-2: AUROC=0.856; year 2: AUROC=0.823) model. In the multiple-year models, the highest fasting plasma glucose, followed by the mean or lowest level of HbA1c and BMI had the most important predictive value for the onset of diabetes. In the "1-3" year model, "delta weight" which reflects the fluctuations of yearly change of weight was the fourth-most important feature. Conclusion: This study demonstrated improved performance with the accumulation of longitudinal data when using machine learning for diabetes prediction in MetS patients. For individuals with similar clinical parameters, the variation trends of these parameters could change the risk of future diabetes. This result indicated that models based on longitudinal multiple years' data may provide more personalized assessment tools for risk evaluation.

Data mining: traditional spring festival associated with hypercholesterolemia.

BACKGROUND: Serum lipid concentrations are affected by long-term high-fat diets; thus, we hypothesize that lipid levels increase after the Spring Festival in China. METHOD: In total, 20,192 individuals (male: n=10,108, female: n=10,084) were enrolled in this retrospective cross-sectional study based on clinical data from the Laboratory Information System (LIS) and Hospital Information System (HIS) in Peking Union Medical College Hospital from 2014 to 2018. Total cholesterol (TC), triglycerides (TGs), high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) were analyzed. RESULTS: The serum TC [male vs. female: (4.71 ± 0.90 vs. 4.56 ± 0.85) mmol/L], TG [male vs. female: (1.71 ± 1.56 vs. 1.02 ± 0.68) mmol/L], and LDL-C [male vs. female: (3.01 ± 0.77 vs. 2.73 ± 0.74) mmol/L] levels were significantly higher in males than in females (P < 0.001); serum HDL-C [male vs. female: (1.18 ± 0.28 vs. 1.50 ± 0.34) mmol/L] was significantly lower in males (P < 0.001). In February, the TC, TG, and LDL-C levels were 8.4%, 16.3%, and 9.3% higher than the lowest levels recorded, respectively. The prevalence of dyslipidemia of the two weeks before the Spring festival was significantly lower than that of the first week after the Spring festival (43.6% (168/385) vs. 54.1% (126/233), P=0.007). Additionally, the prevalence of dyslipidemia was statistically higher in the first week after the Spring Festival than in May-January. CONCLUSION: Higher TC, TG, and LDL-C in winter could be associated with high-fat diets during the Spring Festival. The Spring Festival was immediately followed by a higher lipid concentrations. Thus, we don't recommend lipid assessment or physical examination immediately after the holiday especially Spring festival.

Analysis of gender-specific associations between aldehyde dehydrogenase 2 (ALDH2) rs671 genetic polymorphisms and serum uric acid levels in Han Chinese.

BACKGROUND: Serum uric acid (SUA) is influenced by lifestyle and genetics, and unbalanced SUA levels are linked to various common disorders. While the aldehyde dehydrogenase 2 (ALDH2) rs671 polymorphism appears to be associated with SUA levels, the evidence remains inconclusive. The aim of this study was to examine the distribution of the ALDH2 rs671 polymorphism among Han Chinese in Beijing and determine the association between this polymorphism and SUA. METHODS: A total of 6,461 randomized healthy individuals were included in the study. Biochemical indicators were tested and ALDH2 rs671 polymorphism testing was conducted for subjects enrolled in the study. The distribution of the ALDH2 rs671 polymorphism and the relationship between genotype and the levels of serum lipids and uric acid (UA) were analyzed. RESULTS: The ALDH2 rs671 genotype frequencies were 68.1% (G/G), 29.3% (G/A), and 2.6% (A/A). There was no significant difference in allele distribution between males and females. In males, different ALDH2 genotypes exhibited significant differences in several biochemical analytes, including body mass index (BMI), blood glucose (Glu), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), UA, glutamyl transpeptidase (GGT), and creatinine (Cr) (P<0.05). No such differences were found in females. SUA levels in G/A and A/A-carrying males were significantly lower than those of G/G-carrying males. The effect of the ALDH2 polymorphism on UA was still significant after further adjustment for factors including BMI, Glu, TC, HDL-C, Cr, and GGT. CONCLUSIONS: The ALDH2 polymorphism is related to SUA in Beijing males, and A allele-carrying males have lower SUA levels.

Predictive Value of GAD Antibody for Diabetes in Normal Chinese Adults: A Retrospective Cohort Study in China.

PURPOSE: To investigate the prevalence of GAD antibody (GADA) in the general adult population and to evaluate its predictive value for diabetes in China. PATIENTS AND METHODS: We searched the PUMCH-HM database and identified 36,731 adult subjects with GADA test results from 2012 to 2015. We then established a retrospective cohort of 4835 nondiabetic subjects at baseline with complete annual health evaluation records through 2019. The median follow-up time was 4.8 (3.0-7.3) years. RESULTS: The overall prevalence of GADA was 0.53% and was higher in diabetic subjects (1.25%) than in nondiabetic subjects (0.47%). We found a decrease in baseline body mass index (BMI) from the GADA- to GADAhigh subgroups among baseline diabetic and prediabetic patients and also those who developed diabetes later in the cohort study. A total of 136 subjects (2.8%) developed diabetes after a median follow-up of 3.5 years. For GADA+ participants, BMI was not associated with the risk for diabetes. In the Cox regression model, the GADAlow and GADAhigh exhibited 2.63-fold and 4.16-fold increased risk for diabetes, respectively. This increased risk for diabetes by GADA-positivity is only found in male adults (HR 4.55, 95% CI 2.25-9.23). CONCLUSION: GADA has a low prevalence in China but is associated with a 2.63-4.16-fold increased risk for diabetes.

Reference Intervals for Thyroid-Associated Hormones and the Prevalence of Thyroid Diseases in the Chinese Population.

BACKGROUND: Thyroid diseases are highly prevalent worldwide, but their diagnosis remains a challenge. We established reference intervals (RIs) for thyroid-associated hormones and evaluated the prevalence of thyroid diseases in China. METHODS: After excluding outliers based on the results of ultrasound screening, thyroid antibody tests, and the Tukey method, the medical records of 20,303 euthyroid adults, who visited the Department of Health Care at Peking Union Medical College Hospital from January 2014 to December 2018, were analyzed. Thyroid-associated hormones were measured by the Siemens Advia Centaur XP analyzer. The RIs for thyroid-associated hormones were calculated according to the CLSI C28-A3 guidelines, and were compared with the RIs provided by Siemens. The prevalence of thyroid diseases over the five years was evaluated and compared using the chi-square test. RESULTS: The RIs for thyroid stimulating hormone (TSH), free thyroxine (FT4), free triiodothyronine (FT3), total thyroxine (TT4), and total triiodothyronine (TT3) were 0.71-4.92 mIU/L, 12.2-20.1 pmol/L, 3.9-6.0 pmol/L, 65.6-135.1 nmol/L, and 1.2-2.2 nmol/L, respectively. The RIs of all hormones except TT4 differed significantly between males and females. The RIs of TSH increased with increasing age. The prevalence of overt hypothyroidism, overt hyperthyroidism, subclinical hypothyroidism, and subclinical hyperthyroidism was 0.5% and 0.8%, 0.2% and 0.6%, 3.8% and 6.1%, and 3.3% and 4.7% in males and females, respectively, which differed from those provided by Siemens. CONCLUSIONS: Sex-specific RIs were established for thyroid-associated hormones, and the prevalence of thyroid diseases was determined in the Chinese population.

The effect of ALDH2 rs671 gene mutation on clustering of cardiovascular risk factors in a big data study of Chinese population: associations differ between the sexes.

BACKGROUND: The ALDH2 rs671 genetic polymorphism has been linked with cardiovascular diseases (CVDs), but comprehensive epidemiological studies are lacking. An observational, retrospective big data study was carried out to evaluate the associations between this polymorphism and clustering cardiovascular risk factors (CRFs) in a Chinese population. METHODS: A total of 13,101 individuals (8431 males and 4670 females) were enrolled. Genetic polymorphism was assessed using gene mutation detection kits, coupled with an automatic fluorescent analyzer. Other data were obtained from the records of the Department of Health Care at Peking Union Medical College Hospital. RESULTS: Comparing the concentrations of common biochemical analytes, including BMI, SBP, DBP, ALT, AST, γ-GT, TBil, Cr, Glu, TC, TG, and HDL-C among individuals with the GG, GA, and AA genotypes of ALDH2 rs671, we found significant differences in males (all p < 0.001), but not in females. For males, the frequencies of hypertension, diabetes, and obesity were significantly higher for GG than for GA or AA (all p < 0.05). However, there was no significant difference for dyslipidemia, and no significant associations were observed for all frequencies in females. The prevalence of individuals with 1-4 CRFs was significantly higher among GG males than those carrying GA or AA, and fewer GG males had non-CRFs (all p < 0.05). CONCLUSION: Polymorphisms of ALDH2 rs671 are associated with clustering CRFs, especially hypertension and diabetes in males, but not in females. These associations are likely mediated by alcohol intake, which is also associated with this gene.

Data mining: Seasonal fluctuations and associations between thyroid stimulating hormone and lipid profiles.

OBJECTIVE: Thyroid stimulating hormone (TSH) is associated with lipid metabolism. In this study, we aimed to evaluate seasonal variations and the association between TSH and lipid profiles based on clinical big data. METHOD: This observational, retrospective big data study enrolled a total of 20,192 individuals who visited Peking Union Medical College Hospital for routine health check-ups from 2014 to 2018. Demographic, medical history, common biochemical analytes, and thyroid related test data were obtained. A Kruskal-wallis analysis was used to compare the differences in total cholesterol (TC), triglycerides (TG), high density lipoprotein cholesterol (HDL-C), and low-density lipoprotein cholesterol (LDL-C) by TSH quartiles. Spearman correlation analysis was used to evaluate the association between TSH and lipid profiles as well as temperature. RESULTS: TC and LDL did not vary significantly with TSH concentration; however, TG and HDL-C did. TSH concentration showed weak positive correlation with serum TC, TG, and HDL-C but not with LDL-C. Serum TC concentration was positively correlated with TG and LDL-C. TG was positively correlated with LDL-C but negatively correlated with HDL-C. HDL-C was negatively correlated with LDL-C. TSH and lipid profiles showed seasonal fluctuations. Monthly median TSH, TC, and LDL-C peaked in winter and dropped to a minimum in summer. The correlation coefficient (r) between the average monthly temperature and TSH, TC, TG, HDL-C, and LDL-C was -0.424 (p = 0.001), -0.539 (p < 0.001), -0.020 (p = 0.880), -0.199 (p = 0.127), and -0.442 (p < 0.001), respectively. CONCLUSION: Seasonal variation was observed in both TSH and lipids. Apart from the seasonal variation of TC and LDL-C, our results also have clinical interpretation. It suggested that it may not reflect the real status of lipids during and immediately after the Spring festival. Thus, in order to diagnosis of hypercholesterolemia, re-testing was needed later to provide the precision diagnostic, monitoring and treatment.

Validation of an approach using only patient big data from clinical laboratories to establish reference intervals for thyroid hormones based on data mining.

BACKGROUND: While many studies have established reference intervals (RIs) for thyroid hormones using patient data, this approach has not been validated. Therefore, in this study, we aimed to validate an approach for establishing RIs for thyroid hormones only using patient data from clinical laboratories. METHODS: We established two derived databases: derived database* and derived database#. Reference individuals in derived database* were selected using strict exclusion criteria, and the RIs established by the database were considered standard RIs (RIs*). Individuals in derived database# were the physical examination population, whose information was downloaded directly from the Laboratory Information System, and RIs established from this database were evaluated (RIs#). The comparative confidence interval (CI) method and consistency of the decision results based on external databases were used to compare RIs* and RIs#. RESULTS: RIs# and RIs* for the thyroid hormones tested were similar. The 90% CIs of the upper and lower limits of RIs for most thyroid hormones overlapped between RIs# and RIs*, and the limit of RIs# was within the 90% CI of RIs*. The consistency rates for the results of the RIs* and RIs# in the external database were greater than 98% for all thyroid hormones tested. CONCLUSION: It was possible to establish RIs for thyroid hormones using only patient data from clinical laboratories after adopting appropriate statistical methods.

Gender and age-specific reference intervals of common biochemical analytes in Chinese population: Derivation using real laboratory data.

BACKGROUND: Indirect sampling methods are not only inexpensive but also efficient for establishing reference intervals (RIs) using clinical data. This study was conducted to select fully normal records to establish ageand gender-specific RIs for common biochemical analytes by laboratory data mining. METHODS: In total, 280,206 records from 2014 to 2018 were obtained from Peking Union Medical College Hospital. Common biochemical analytes total protein, albumin, total bilirubin (TBil), direct bilirubin (DBil), alanine aminotransferase (ALT), glutamyltranspeptidase (GGT), alkaline phosphatase (ALP), aspartate aminotransferase (AST), lactate dehydrogenase (LDH), potassium, sodium, chlorine, calcium, urea, glucose, uric acid (UA), inorganic phosphorus, creatinine (Cr), total cholesterol, triglyceride, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol] were measured using an automatic analyzer. Sources of variation were identified by multiple regression analysis. The 2.5th and 97.5th percentiles were calculated as the lower and upper limits of the RIs, respectively. RESULTS: Gender was the major source of variation among the 13 common biochemical analytes with an rp > 0.15. In contrast to the value listed in the WS/T 404, nearly all RIs established in this study were significantly narrower. Furthermore, age-specific RIs should be determined for DBil, LDH, and urea, whereas gender-specific RIs are suggested for GGT, LDH, and urea. CONCLUSIONS: We recommend that gender-specific RIs should be established for ALT, AST, GGT, DBil, TBil, UA, and Cr as well as genderand age-specific RIs for urea and ALP. Through indirect sampling, ageand gender-specific RIs for common biochemical analytes were established and analyzed.

Serum uric acid levels and hyperuricemia in patients with psoriasis: a hospital-based cross-sectional study

Abstract: A hospital-based cross-sectional study was performed, including 117 psoriatic patients and 117 controls matched for age, gender, and body mass index. Psoriatic patients had higher levels of serum uric acid (6.25 ± 1.62 vs 5.71 ± 1.35 mg/dl; P=0.019) and significantly greater prevalence of hyperuricemia (31.6% vs 16.2%; P=0.009) than individuals without psoriasis. Psoriatic patients had significantly higher serum uric acid than controls in subjects without metabolic syndrome. Multivariate logistic regression analysis showed that psoriasis can be a strong predictor of hyperuricemia (odds ratio 2.61; 95% confidence interval 1.34-5.00; P=0.004).

Serum uric acid levels and hyperuricemia in patients with psoriasis: a hospital-based cross-sectional study.

A hospital-based cross-sectional study was performed, including 117 psoriatic patients and 117 controls matched for age, gender, and body mass index. Psoriatic patients had higher levels of serum uric acid (6.25 ± 1.62 vs 5.71 ± 1.35 mg/dl; P=0.019) and significantly greater prevalence of hyperuricemia (31.6% vs 16.2%; P=0.009) than individuals without psoriasis. Psoriatic patients had significantly higher serum uric acid than controls in subjects without metabolic syndrome. Multivariate logistic regression analysis showed that psoriasis can be a strong predictor of hyperuricemia (odds ratio 2.61; 95% confidence interval 1.34-5.00; P=0.004).

Genetics educational needs in China: physicians' experience and knowledge of genetic testing.

PURPOSE: The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China. METHODS: An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated. RESULTS: Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P < 0.05). Sixty-six percent of physicians indicated a desire for specialized genetic services, and 84% reported a desire for additional genetics education. CONCLUSION: This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.