Screening management progress
Neonatal screening is a complex system involving organization management, laboratory technique, clinical diagnosis and public education, which requires complete cooperation of each department. This process put a harsh demanding on the scientificity and technology, as well as a standard management. New screening involves several fields, including clinical medicine, genetics, principles of management, sociology, informatics and education, and the whole process is rather complex including signing informed consent, sample collection and transmission, determination, diagnosis, treatment, follow up and evaluation, by the doctors, nurses, laboratory staff, public health doctors, statistician, quality control personnel, and social staff. This involves cooperation of many medical institutions including screening center, sample collection and quality control center, institutions for the recall of cases with positive screening, and administrative management department. The system is rather complex and time-consuming, which involves management of massive information, data on the recall and diagnosis and follow up. To ensure whole system quality, standard management model and information management system are required, and continuous efforts are needed [1-5].
Constitution of the new screening management system
Process for the new screening included informed consent, sample collection and transmission, determination, recall, diagnosis, treatment, follow up and evaluation. Information management system (IMS) is designed and utilized based on these aspects, including the blood collection system, transmission system, laboratory, diagnosis, treatment and follow up systems that are closely related to each other (Figure 1).
Division of the screening management system based on laboratory management
A management theory with the core of complete quality control before, during and after analysis was established. Before analysis, blood sample collection was conducted, until sample transmission and management, and sample reception. During the analysis, it started with the management of laboratory and ended with the data upload, quality control analysis and data interpretation. Quality control after analysis included report release, notice management, recall of aberrant data and follow up management (Figure 2).
Evaluation of disease screening
In order to standardize the quality management of genetic metabolic disease by neonatal screening, 16 evaluation indices were proposed according to the previous description [2], together with the separation and location of the screening management system. This process is used for quality evaluation of screening, which guarantees the progressing of screening of metabolic disease in neonates.
Division of the 16 indices was based on the function. Sample collection was mainly focused on the evaluation of health education rate, screening rate, Percentage of unqualified blood spots, percentage of important information miss, turnover time of dry blood sample, in time rate, and positive rate of prescreening. Screening laboratory was mainly used for the release time of report, in time rate, room quality control rate, rate of failure for quality control CV. Recall department was mainly responsible for the positive rate of recall and rate of lost in the follow up. Comprehensive control index included positive rate of recall, prediction of positivity, prevalence of screening disease, as well as false negativity.
In order to achieve 16 indices of quality control in neonatal screening, numeralization was used for quality control based on certain conditions, in order to obtain comparability of quality control indices. Meanwhile, normalization management was given in actual process (Figure 3). Furthermore, quality control evaluation system was established during the running of the system, which guaranteed the continuous improvement of the system.
Awareness of health education of neonatal screening
For the informed consent was signed by the parents. On this basis, the information should be entered into the medical system. Meanwhile, an option should be given in the information collection file, including screening consent, blood sample collection (Figure 4). In cases of no blood sample collection, it meant not signing the file or no health education.
Screening rate
The screening rate was analyzed based on a time point of 20 days after birth. Usually, there is no time limitation, and screening data should be included in the statistical analysis. For cases born in a certain hospital and received screening in another hospital, the screening rate was bequeathed to the former hospital (Figure 5).
Percentage of non-qualified dry blood sample
In a certain statistical cycle, there might be changes of non-qualified dry blood sample for twice or more. In cases of a single, twice or more non-qualified dry blood sample, superposition was required (Figure 6).
Percentage of missing of important information in the dry blood sample
The important information should be based on the technological specification. Missing components or requirement of modification by the approver was considered to be insufficiency of important data (Figure 7).
Turnover time and in-time rate for the dry blood sample before analysis
The statistical cycle was defined as the median turnover time and in-time rate (Figure 8).
Median release time and in-time rate
Figure 9 summarized the release time of test report and in-time rate per month. The in-time rate was satisfactory in the Jan, Feb. and Mar. of 2017, respectively.
Rate of quality control
Fixed codes were set for the quality control. Data entered the screening management system. The figure for quality control of each screening program was recorded. The screening was given according to the schedule.
Fraction defective rate of CV of the quality control
Fraction defective rate of CV of quality control was analyzed per month. As there were quality control data in the management system, the data were subject to statistical analysis based on the preset CV quality limit.
Positive rate of pre-screening
The positive rate was analyzed by a season as shown in Figure 10. In the first season of 2017, the TSH percentage was the highest among these parameters, followed by G6PD, MSMS, 17-OHP and PHE, respectively.
Positive rate of screening
It is crucial to analyze the number of positive samples that were recalled. This may cause confusion to the screening positivity. The screening positive rate was presented by seasons as shown in Figure 11. In the first season of 2017, the highest percentage was G6PD, followed by TSH, 17-OHP, MSMS and PHE, respectively.
Positive rate for recall after prescreening
The positive rate for recall was displayed by seasons. The recall rate was nearly 90% for G6PD, MSMS, 17-OHP, PHE and TSH in Jan. 2017 and Feb. 2017, respectively. In Mar. 2017, the recall rate for these parameters was still high except PHE with a rate of merely 40% (Figure 12).
Positive rate for recall
As shown in Figure 13, the recall rate for G6PD was high. However, that for MSMS, 17-OHP, PHE and TSH was comparatively lower with a rate of less than 20%.
Positive prediction value
The G6PD was higher than 80% as shown in Figure 14. Nevertheless, the rates for the other parameters were less than 20%, respectively.
Prevalence of screened disorders
The prevalence was subject to analysis per year. Besides, the prevalence was also displayed by percentage, or permillage.
False negative rate
The false negative rate was analyzed per year. The management system was used to screen the positive samples that were recalled. It is a case form generated in the system. There was no link between the prescreening negativity and the posterior content. On this basis, it is necessary to add such data and the generated link to the treatment model in the system, together with labeling of the negative code. The link was generated after confirmation with the supervisor.
Lost of follow-up
The lost of follow-up referred to the recall of samples that should have been recalled. The rate was calculated once per year as shown in Figure 15.