Expanded Newborn Screening in Malaysia: Status, Challenges, Future.
Journal name: The Malaysian Journal of Medical Sciences
Original article title: Present Status and Future Concerns of Expanded Newborn Screening in Malaysia: Sustainability, Challenges and Perspectives
The Malaysian Journal of Medical Sciences (MJMS) is a peer-reviewed, open-access journal published online at least six times a year. It covers all aspects of medical sciences and prioritizes high-quality research.
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Yin Hui LEONG, Chee Yuen GAN, Mohd Adi Firdaus TAN, Mohamed Isa Abdul MAJID
The Malaysian Journal of Medical Sciences:
(A peer-reviewed, open-access journal)
Full text available for: Present Status and Future Concerns of Expanded Newborn Screening in Malaysia: Sustainability, Challenges and Perspectives
Year: 2014
Copyright (license): CC BY 4.0
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Summary of article contents:
Introduction
Newborn screening (NBS) is a crucial public health program that facilitates the early detection and treatment of congenital disorders, focusing on inborn errors of metabolism (IEM) and related conditions. The World Health Organization emphasizes NBS as an essential preventive strategy for mitigating congenital anomalies and enhancing child health. In many developing regions, including Southeast Asia and North Africa, the implementation of NBS has been slow, hindered by various challenges such as limited funding, manpower shortages, inadequate support services, and low public awareness. Establishing NBS as a mandatory component of public healthcare systems is vital for improving health outcomes in these countries.
Importance of Expanded Newborn Screening
Expanded newborn screening goes beyond basic metabolic defenses and includes a comprehensive assessment of various disorders related to amino acid metabolism, fatty acid oxidation, and organic acid metabolism. Despite Malaysian initiatives that began with screening for glucose-6-phosphate dehydrogenase deficiency and congenital hypothyroidism, broader NBS programs remain limited, primarily available at a few specialized centers. Data indicate that while screening numbers have grown over the years, actual diagnoses of IEM cases remain unclear due to confidentiality constraints. A significant problem lies in the high costs associated with infrastructure, training, and follow-up care, which can deter the program's broader implementation at the national level. More critically, the low public awareness and insufficient engagement from healthcare practitioners contribute to a lack of participation and interest in expanded NBS.
Conclusion
Although the prevalence of IEMs may be low, early diagnosis and intervention through NBS can prevent long-term developmental impairments and reduce infant mortality rates. The success of an expanded NBS program in Malaysia is contingent on resolving existing challenges, including securing sustained funding, increasing public awareness, and bolstering healthcare provider engagement. For NBS to be effectively integrated into the national healthcare framework, policy makers must actively support its implementation and promote collaboration among medical professionals. By addressing these barriers, Malaysia can improve health outcomes for its newborns and enhance the overall quality of life for its future generations.
FAQ section (important questions/answers):
What is the purpose of newborn screening (NBS)?
Newborn screening (NBS) is designed for early diagnosis and preventive treatment of congenital disorders, aiming to improve the health outcomes of infants and prevent lifelong impairments.
What challenges hinder NBS implementation in developing countries?
Challenges include limited funding, manpower shortages, low public awareness, and insufficient commitment from healthcare practitioners, making it difficult to establish robust NBS programs in developing regions.
How does NBS function in Malaysia currently?
In Malaysia, NBS began with G6PD screening in 1980. Currently, expanded NBS is offered mainly at two centers and is not mandatory, leading to limited nationwide coverage and awareness.
Why is government support crucial for NBS success?
Government prioritization and support enable necessary funding, public education, and healthcare cooperation, which are essential for establishing and maintaining an effective NBS program for the population.
Glossary definitions and references:
Scientific and Ayurvedic Glossary list for “Expanded Newborn Screening in Malaysia: Status, Challenges, Future.”. This list explains important keywords that occur in this article and links it to the glossary for a better understanding of that concept in the context of Ayurveda and other topics.
1) Developing:
The term 'developing' refers to countries or regions that are in the process of growth and modernization, often facing economic, social, and political challenges. In the context of newborn screening programs, developing areas may struggle with implementation due to limited resources, inadequate infrastructure, and insufficient public health initiatives, thereby impacting children's healthcare accessibility and outcomes.
2) Table:
A 'table' in this context likely refers to a structured presentation of data or statistics used to organize information concisely and clearly. In the article, the table provides crucial statistics about newborn screening results over several years, facilitating the understanding of the program’s performance and its efficacy in detecting metabolic disorders.
3) Disease:
'Disease' denotes a condition that disrupts normal bodily functions, often resulting in physical or mental impairment. The discussion in the article centers around inherited metabolic disorders, highlighting the need for early detection through newborn screening to prevent complications, improve quality of life, and lower the risk of severe health issues.
4) Birth:
The term 'birth' marks the beginning of life for infants and is a critical moment for initiating healthcare processes, such as newborn screening. Timely interventions at this stage can significantly impact long-term outcomes, facilitating early detection of congenital conditions and enabling immediate medical care to mitigate potential disabilities.
5) Life:
'Life' represents the existence of living beings, and focusing on its quality is paramount in pediatric healthcare. The article emphasizes the importance of newborn screening programs in enhancing the quality of life for infants by preventing or mitigating the impacts of congenital disorders, allowing for healthier development.
6) Death:
'Death' signifies the end of life and represents a critical concern in public health. The article discusses neonatal deaths caused by congenital anomalies, underscoring the necessity of effective newborn screening programs to identify and treat life-threatening metabolic disorders early, thereby reducing mortality rates among newborns and infants.
7) Post:
'Post' generally refers to a period after a particular event or action. In healthcare, post-birth actions, such as screening and follow-up treatments, are vital for monitoring the health of newborns. Such actions are essential to ensure that any detected disorders are managed appropriately to prevent adverse outcomes.
8) Perception:
'Perception' relates to the way individuals interpret and understand information. In the context of newborn screening, parental perception influences decisions regarding participation in these programs. Misunderstandings or lack of awareness can deter families from consenting, highlighting the importance of education to foster a positive attitude toward screening.
9) Blood:
'Blood' is a vital fluid in the body that carries oxygen and nutrients. In newborn screening, blood tests are crucial as they help identify various metabolic and hormonal disorders by analyzing small blood samples. Proper collection and analysis can significantly aid in early diagnosis and treatment, enhancing child health outcomes.
10) Toxicology:
'Toxicology' is the study of the harmful effects of substances on living organisms. In the context of newborn screening, knowledge of toxicological principles is critical to detect potential metabolic disorders with toxic effects on infants. Screening helps identify conditions early, thus preventing toxic build-up and severe health issues.
11) Education:
'Education' encompasses the dissemination of knowledge and information. It is a vital component in improving awareness and acceptance of newborn screening programs. Increasing public and clinician education can enhance participation rates, ensuring that more infants receive necessary screenings and subsequent treatments, ultimately promoting better health outcomes.
12) Anxiety:
'Anxiety' refers to the emotional distress concerning future uncertainties. For parents of newborns undergoing screening, anxiety can arise from concerns about possible diagnoses and the health of their child. Addressing these emotions through support and information is vital to facilitate acceptance and understanding of the screening process.
13) Thong:
'Thong' likely references an author, MK Thong, who has contributed to the research on the spectrum of inherited metabolic disorders in Malaysia. This acknowledgment highlights the importance of credible academic contributions in advancing understanding and establishing systems like newborn screening in improving public health.
14) Raja:
'Raja' refers to another contributing author, signaling collaborative efforts in researching and addressing health issues related to newborns. The inclusion of diverse expertise is essential in comprehensively addressing the multifaceted challenges in implementing effective newborn screening programs within healthcare systems.
15) Chan:
'Chan' indicates an author or researcher involved in discussing aspects of newborn health and metabolic screening. Collaboration among researchers enhances the understanding of health challenges, as well as facilitates the development and implementation of innovative solutions for effective newborn care and screening procedures.
16) Practising (Practicing):
'Practicing' refers to healthcare professionals actively engaging in their medical or clinical fields. It is significant in the context of newborn screening, as practicing clinicians are essential for administering screenings, interpreting results, and providing necessary follow-up care, contributing to the health and well-being of newborns.
17) Knowledge:
'Knowledge' denotes the accumulation of understanding and information. In healthcare, having updated knowledge about screening processes, disorders, and treatment options is crucial for practitioners and parents, allowing better decision-making and ultimately contributing to the successful implementation of newborn screening programs.
18) Activity:
'Activity' refers to actions or tasks performed to achieve a goal. In the context of the article, the activities associated with newborn screening encompass the entire spectrum from education, testing, follow-ups, diagnoses, to treatments, indicating its dynamic role in public health initiatives aimed at improving infant health outcomes.
19) Training:
'Training' refers to the process of developing skills and knowledge. It is crucial for medical professionals involved in newborn screening, as proper training ensures that they can accurately perform screenings, interpret results, and provide informed care, ultimately enhancing the effectiveness of screening programs.
20) Quality:
'Quality' indicates the standard of something, in this case, healthcare services. The quality of newborn screening and subsequent care directly affects health outcomes for infants. High-quality screening programs lead to timely diagnoses and treatments, significantly reducing rates of mortality and morbidity associated with congenital disorders.
21) Account:
'Account' denotes a record or report of something. In healthcare, maintaining accurate accounts of screenings, results, and follow-ups is critical for assessing the program's effectiveness and improving strategies for implementation. The ability to track data can help refine practices and policies for better health systems.
22) Reason:
'Reason' indicates the justification for actions or decisions. Understanding the reasons behind low participation rates in newborn screening can lead to targeted interventions to improve public awareness and acceptance. It is essential to address misconceptions and provide clear information to encourage families to utilize screening services.
23) Rules:
'Rules' refer to established guidelines or standards. In the context of newborn screening, rules regarding screening protocols, follow-up processes, and data management are vital to ensure consistent practices and high-quality service delivery, thereby enhancing the efficacy of the screening program.
24) Pur:
'Poor' reflects a lack of quality, quantity, or effectiveness. In the context of healthcare, 'poor' can describe inadequate resources or infrastructure in developing countries that hinder the implementation of newborn screening programs. Addressing these deficiencies is crucial to provide equitable healthcare access and improve child health outcomes.