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      Health Information Exchange in Relation to Long-Term Follow-Up Data System in Newborn Screening Program: General Overview and the Saudi Status

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      Saudi Journal of Health Systems Research
      S. Karger AG

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          Abstract

          <b><i>Background:</i></b> Newborn screening program (NBS) is a vital public health service aiming to prevent morbidity, mortality, and disability through early detection and intervention. The service is a complex system that requires proper communication between its different constituents. The advent of technology in this field represented by the existence of robust analytical diagnostic tools which allow for rapid analysis of many rare congenital disorders along with the accelerated revolution of health information technology is a capstone towards improvement of an individual’s life quality and patient safety enhancement. <b><i>Summary:</i></b> Effective screening program requires an effective system that delivers results in timely manner, tracks those who are affected, and shares long-term outcomes at population level. Recently, more focus has been placed on the implementation of long-term follow-up (LTFU) data systems as an effective tool for continuous evaluation of the efficacy of NBS program. The ability to communicate health information using health information exchange system (HIE) is very essential to effective implementation of any LTFU plan. <b><i>Key Messages:</i></b> This review explores other programs’ experience in the impact of implementing HIE system in relation to LTFU data system in the era of NBS program and the importance of having a well-established collaboration infrastructure. Also, and at a glance, the current status of the Saudi National NBS program in the context of health informatics and barriers faced towards implementation of successful LTFU data system in relation to HIE is highlighted. Future trends may involve incorporating genomic data to LTFU system allowing for the application of the newly emerged personalized medicine era.

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          Most cited references24

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          Consanguinity among the Saudi Arabian population.

          This study was conducted on 3212 Saudi families to investigate the prevalence of consanguineous marriages. The families were interviewed and the information on the relationship between the husband and wife was obtained. The overall rate of consanguinity shows that 57.7% of the families screened were consanguineous. The most frequent were first cousin marriages (28.4%) followed by distant relative marriages (15.2%) and second cousin marriages (14.6%). The families were grouped according to the province of their origin and the consanguinity rates were calculated accordingly. There were slight differences in the consanguinity rates in the five provinces, which ranged from 52.1% to 67.7%. In each province first cousin marriages were the most frequently encountered pattern, ranging from 17.9% to 40.9%. The inbreeding coefficient (F) was calculated for each province and ranged from 0.020 to 0.030. Within each province, there were several significant differences among the populations in the different areas. The highest rate of consanguinity was 80.6% in Samtah and the lowest rate was around 34% in Abha in the South Western province. These results place Saudi Arabia among the countries of the world with a high rate of consanguinity. The possible consequences of increased consanguinity are presented and discussed.
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            Current status of newborn screening worldwide: 2015.

            Newborn screening describes various tests that can occur during the first few hours or days of a newborn's life and have the potential for preventing severe health problems, including death. Newborn screening has evolved from a simple blood or urine screening test to a more comprehensive and complex screening system capable of detecting over 50 different conditions. While a number of papers have described various newborn screening activities around the world, including a series of papers in 2007, a comprehensive review of ongoing activities since that time has not been published. In this report, we divide the world into 5 regions (North America, Europe, Middle East and North Africa, Latin America, and Asia Pacific), assessing the current NBS situation in each region and reviewing activities that have taken place in recent years. We have also provided an extensive reference listing and summary of NBS and health data in tabular form.
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              LOINC, a universal standard for identifying laboratory observations: a 5-year update.

              The Logical Observation Identifier Names and Codes (LOINC) database provides a universal code system for reporting laboratory and other clinical observations. Its purpose is to identify observations in electronic messages such as Health Level Seven (HL7) observation messages, so that when hospitals, health maintenance organizations, pharmaceutical manufacturers, researchers, and public health departments receive such messages from multiple sources, they can automatically file the results in the right slots of their medical records, research, and/or public health systems. For each observation, the database includes a code (of which 25 000 are laboratory test observations), a long formal name, a "short" 30-character name, and synonyms. The database comes with a mapping program called Regenstrief LOINC Mapping Assistant (RELMA(TM)) to assist the mapping of local test codes to LOINC codes and to facilitate browsing of the LOINC results. Both LOINC and RELMA are available at no cost from http://www.regenstrief.org/loinc/. The LOINC medical database carries records for >30 000 different observations. LOINC codes are being used by large reference laboratories and federal agencies, e.g., the CDC and the Department of Veterans Affairs, and are part of the Health Insurance Portability and Accountability Act (HIPAA) attachment proposal. Internationally, they have been adopted in Switzerland, Hong Kong, Australia, and Canada, and by the German national standards organization, the Deutsches Instituts für Normung. Laboratories should include LOINC codes in their outbound HL7 messages so that clinical and research clients can easily integrate these results into their clinical and research repositories. Laboratories should also encourage instrument vendors to deliver LOINC codes in their instrument outputs and demand LOINC codes in HL7 messages they get from reference laboratories to avoid the need to lump so many referral tests under the "send out lab" code.
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                Author and article information

                Journal
                Saudi Journal of Health Systems Research
                Saudi J Health Syst Res
                S. Karger AG
                2673-6136
                June 16 2022
                April 19 2022
                : 2
                : 2
                : 45-53
                Article
                10.1159/000523827
                0c69a533-c6d2-45e4-b653-1131f3cb2194
                © 2022

                https://creativecommons.org/licenses/by-nc/4.0/

                https://creativecommons.org/licenses/by-nc/4.0/

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