• Journal of mucopolysaccharidosis and rare diseases
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• v.3 no.1
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• pp.9-13
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• 2017

Tandem mass spectrometry and other new technologies for the multiplex and quantitative analysis of dried blood spots have emerged as powerful techniques for the early screening and assessment of newborns for lysosomal storage diseases (LSDs). Screening newborns for these diseases is important, since treatment options, including enzyme replacement therapy or hematopoietic transplantation, are available for some LSDs, such as infant-onset Pompe disease, Fabry disease, some types of mucopolysaccharidoses (MPSs), and Krabbe disease. For these diseases, early initiation of treatment, before symptoms worsen, often leads to better clinical outcomes. Several problems, however, are associated with newborn screening for LSDs, including the development of accurate test methods to reduce low false-positive rates and treatment guidelines for late-onset or mild disease variants, the high costs associated with multiplex assays, and ethical issues. In this review, we discuss the history, current status, and ethical problems associated with the newborn screening for LSDs, including MPSs.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.1-9
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• 2014

Many inborn errors of metabolism can be completely cured with early detection and early treatment. This is why neonatal screening on inborn errors of metabolism is implemented worldwide. In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia and congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU and congenital hypothyroidism to increase test numbers with same budget from 1995. 78 laboratories wanted to participate for neonatal screening test in 1999. Government decided to screen six items of PKU, congenital hypothyroidism, maple syrup urine disease, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. In 2014, thirteen laboratories are participating. Inter laboratory quality control was started 6 times a year from 1994. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. According to the government project, from 1997 to 2013, 7,080,569 newborns were screened. 144 PKU, 2.451 congenital hypothyroidism were detected. So incidence of PKU is 1/49,170 and congenital hypothyroidism is 1/2,888. The cost benefit of performing screening procedures coupled with treatment has been estimated to be as high as 1.77 times in PKU, 11.11 times in congenital hypothyroidism than cost without screening. By January 2007, many European countries had expanded of their newborn screening programs by inclusion of Tandem mass spectrometry. We are trying to increase the budget to test all newborns for Tandem mass spectrometry from 2016. We are considering four to five central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose. And I hope to expand test including Wilson disease screening test and lysosomal storage diseases.

• The Korean Journal of Health Service Management
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• v.5 no.4
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• pp.1-13
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• 2011

The purpose of this study is to analyze the medical care utilization behavior of patients to whom treatment (surgery) is recommended after they are diagnosed with abnormal findings on health screening and factors affecting the selection of the medical institute for treatment. The data was collected from 291 patients who need treatment or surgery, according to the abnormal findings on the additional examination such as cardiac CT, brain MRI, Gastroscopy and Colonoscopy since four diseases are suspected among of 2,752 people who receive health screening. The results are as follows. First, the most common disease of patients who have abnormal findings by the diagnosis through the results of first testing is colon disease based on through the additional examination. The most common disease of patients who will get treatment (surgery) based on final diagnosis by a doctor who determines the result of health screening on the basis of diagnosis from the first testing is cardiovascular disease. Second, in terms of diseases, patients with cardiovascular disease select the medical institute where they get the health screenings as a place for treatment. Patients with cerebrovascular disease select another medical institute for treatment. Finally, the affective factors of selectivity treatment facility on health screening satisfaction were human, facility, health screening and revisit factors.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.1 no.1
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• pp.48-53
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• 2001

• Health Policy and Management
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• v.31 no.3
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• pp.272-279
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• 2021

Background: Korea's health screening program has been faced the need for changes as the population and diseases structure are changing. In addition to Korea, many countries operate state-led health check-up programs to improve the health level of the people, and the operating methods of the program appear in various forms according to each country's health insurance system. This study examines other state-led health screening programs and proposes a direction for the development of Korea's health screening program. Methods: The study was conducted using the literature review method, and the "country" was set as a unit for the case analysis. The operating method of the health screening programs and the financial resources were compared according to the health insurance system. Five countries were selected as Korea, the United States, the United Kingdom, Japan, and Taiwan. Results: The analyzed countries mainly operate the health screening program as a management method for chronic diseases, but there were differences in the operating method, financing, and targeted subjects and examination items. In most countries, a risk assessment was performed prior to the examination (screening), and the subjects who needed the examination were first selected, and a follow-up management service was provided in accordance with the risk each individual exposed. Conclusion: Rather than applying the same screening method to populations with different risk levels, a health screening program will be constructed in consideration of the individual's health level and exposure risk, and the healthcare delivery system will be reorganized so that screening and treatment services can be linked.

• Clinical and Experimental Pediatrics
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• v.49 no.11
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• pp.1125-1139
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• 2006

In 1991, the Ministry of Health & Social affairs adopted a nationwide service program for neonatal screening of phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, histidinemia & congenital hypothyroidism for newborns delivered from low class pregnant women registered in health centers. Government decreased the test items from six to two, PKU & congenital hypothyroidism to increase test numbers with same budget from 1995. Government decided to test PKU & hypothyroidism for all newborns from 1997. 78 laboratories wanted to participate for neonatal screening test in 1999. Government didn't decide laboratory center for a certain district and placed responsibility on free competition. Government are planning to test 573,000 newborns from 1998, Government decided to screen 6 items PKU, congenital hypothyroidism, maple syrup urine disese, homocystinuria, galactosemia and congenital adrenal hyperplasia from 2006. 17 laboratores are participating now. The cost of screening test is supported by both the federal government and local government on a 40-60 basis. In case a patient with an inherited metabolic disease is diagnosed by screening of government program, special milk is provided at government's expense. Interlaboratory quality control was started 6 times a year from 1994. According to the government project, 3,707,773 newborns were screened. 86 PKU, 718 congenital hypothyroidism were detected. So incidence of PKU is 1/43,114 and congenital hypothyroidism is 1/4,612. Maeil dairy company produced new special formula for PKU, MMA and PA, MSUD, urea cycle disorder, homocystinuria, isovaleric acidemia from Oct. 1999. The cost benefit of performing screening procedures coupled with treatment has been estimated to be as high as 1.77 times in PKU, 11.11 times in congenital hypothyroidism than cost without screening. We are trying to increase the budget to test all newborns for Tandem mass sereening & Wilson disease from 2008. Now it is a very important problem to decrease laboratory numbers of neonatal screening in Korea. So we are considering 4-5 central laboratories which cover all newborns and are equipped with tandem mass spectrometer & enzyme immunoassay for TSH, 17OHP & enzyme colorimetric assay for galactose.

• Journal of Digestive Cancer Research
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• v.2 no.1
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• pp.5-7
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• 2014

Screening and early diagnosis of cancer is important. Screening lead to detect disease earlier, and earlier treatment of disease cause to yield a better outcome than treatment at the onset of symptoms. Some studies suggest that gastric cancer screening may be associated with a reduced risk of mortality from gastric cancer, although there are no definitive data from large controlled trials. Regular colorectal cancer screening or testing is one of the most powerful weapons for preventing colorectal cancer, because some polyps, or growths can be found and removed before they have the chance to turn into cancer. Screening can also result in finding colorectal cancer early, when it is highly curable. In conclusion, to increase utilization of screening is important to decrease gastric and colorectal cancer morbidity and mortality.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.6 no.1
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• pp.24-31
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• 2006

Purpose : The Ministry of Health and Social Affairs adopted newborn screening for the low-income families in 1991 and expanded in 1997 to cover all newborns. At the beginning of the program 6 diseases were selected for screening but the number of screening items had been reduced to two (congenital hypothyroidism and phenylketonuria) from the year 1995. Now, the government program has a fifteen year history. The purpose of this study was to analyze results of neonatal screening tests and prevalence at birth of phenylketonuria and congenital hypothyroidism in Korea. Methods : The results of neonatal screening tests were collected from public health centers during 15 years from 1991 to 2005. These data were analyzed for number of tested newborns and prevalence at birth of the inborn errors of metabolism. Results : Neonatal screening test for inborn error of metabolism was performed for 3,707,773 newborns for 15 years. Among newborns who were screened 718 congenital hypothyroidisms and 86 phenylketonurias were detected, and these presented an prevalence at bith of congenital hypothyroidism 1/5,164 and that of phenylketonuria 1/43,114. The total prevalence of two diseases was 1/4,612. Conclusion : National screening program should be expanded to include all items of screening tests for whole newborns and established correct prevalence of other inherited metabolic diseases in Korea.

• Journal of Preventive Medicine and Public Health
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• v.43 no.1
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• pp.9-17
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• 2010

Objectives: Parkinson's disease is one of the most common neurodegenerative diseases in the elderly population. In order to estimate the prevalence of Parkinson's disease in the community, the application of a good screening tool is essential. We evaluated the validity and reliability of a Parkinson's disease screening questionnaire and propose an alternative measure to improve its validity for use in community surveys. Methods: We designed the study in a three-phase approach consisting of a screening questionnaire, neurologic examination, and confirmatory examination. A repeated survey was administered to patients with disease detected in the community and on 150 subjects. We examined internal consistency using Cronbach's alpha test, test-retest reliability using the kappa statistic, and validity using sensitivity, specificity, and ROC curves. Unadjusted odds ratios were utilized for the estimation of weights for each questionnaire item. Results: The Cronbach's alpha of the questionnaire was 0.708. The kappa statistic for test-retest reliability was good to generally fair in most of the items. When newly proposed weighting scores were used, the optimum cut-off value was 7/8. When cut-off value was 5/6 for surveying prevalence in a community, the sensitivity was 0.98, and the specificity was 0.61, with simultaneous improvement in reliability. Conclusions: We recommend 5/6 as the ideal cut-off value for the survey of PD prevalence in community. This questionnaire designed for the Korean community could help future epidemiologic studies of PD.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.2
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• pp.853-857
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• 2013

Objectives: Breast cancer is a leading cause of morbidity and mortality in women worldwide. Breast screening in normal and/or asymptomatic women is essential to reduce the burden of breast malignancies. Our study aimed to identify possible risk- and/or co-factors associated with breast screening in North Indian women. Methods: A public health research survey was conducted among 100 women of North Indian ethnicity during clinic visits in a 6-month timeline (April-October 2012). Demographic and clinical data, including mammography screening, were recorded in the questionnaire-based proforma after conducting a 10 minute interview. Written informed consent was taken from all the participants. Results: The mean age of the participants was $32.2{\pm}9.9$ years. Out of 100 women, 6% had family history of breast disease. Breast-related complaints/malignancy, including galactorrhoea, mastitis, axillary lump, fibrocystic disease, fibroadenosis and adenocarcinoma were observed in 41% participants; age stratification revealed that 82.9% of this group (n=41) were <30 years, while 9.7% and 7.3% were >30 years and 30 years of age, respectively. 32% participants underwent mammography screening and 8% had breast ultrasound imaging. Age stratification in the mammography screening group demonstrated that 24 women were <40 years, while 7 women were >40 years. Conclusions: Our pilot study identified possible co-factors affecting breast screening in North Indian women. These findings may be beneficial in early detection of breast abnormalities, including malignancies in women susceptible to breast cancer, and thus aid in future design of cost-effective screening strategies to reduce the increasing burden of breast carcinoma in women worldwide.