Beliefs on the causes of birth defects as perceived by mothers of children with birth defects in a tertiary care hospital in the Philippines.

There are several ethnolinguistic groups or ethnicities in the Philippines, and genetic counselors may encounter clients with diverse beliefs, inscribed by their culture, about health conditions. Thus, clients may attribute the cause of a birth defect to a socio-culturally based health belief. The present study aimed to explore the beliefs on the causes of birth defects held by mothers of children diagnosed to have birth defects. The study was conducted as a qualitative descriptive pilot study in Baguio General Hospital and Medical Health Center (BGHMC), a birth defect surveillance site tertiary care hospital in the Philippines. Participants were mothers of children diagnosed to have birth defects at the BGHMC. In-depth interviews were used to collect data from 18 participants aged 18-46 years. Birth defect conditions of the participants' children included congenital heart defect, cleft lip and palate, hydrocephalus, imperforate anus, hypospadias, and microcephaly. When the participants were asked about their views on the causes of birth defects in their children, they perceived that genetics or heredity, stress, a fall during pregnancy, maternal sickness, teenage pregnancy, thin uterine lining, twin-twin transfusion syndrome, and God's will have caused it. Findings also showed that mothers of children with the birth defect have both biomedically and socio-culturally based health beliefs. Awareness of these health belief systems will help the genetic counselor provide appropriate genetics education and psychosocial support to their clients.

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.

Cultural beliefs on disease causation in the Philippines: challenge and implications in genetic counseling.

The provision of culturally competent health care is an important professional issue recognized by the pioneer genetic counselors in the Philippines. Being an archipelago consisting of 7,107 islands, the Philippines has approximately 175 ethnolinguistic groups with their own unique cultural identity and health practices. The emphasis on culture in our genetic counseling training recognizes its crucial role in molding an individual's conceptualization of health, as well as other life aspects, especially since the Filipino culture is a mixture of indigenous as well as imported and borrowed elements. As part of this endeavor, we will describe in this paper seven common Filipino cultural beliefs: namamana, lihi, sumpa, gaba, pasma, namaligno, and kaloob ng Diyos. We will also share examples on how these common beliefs provide explanation as cause of illness and its implications in our genetic counseling profession.

Genetic counseling/consultation in South-East Asia: a report from the workshop at the 10th Asia pacific conference on human genetics.

This paper reports on the workshop 'Genetic Counseling/Consultations in South-East Asia' at the 10(th) Asia Pacific Conference on Human Genetics in Kuala Lumpur, Malaysia, in December 2012. The workshop brought together professionals and language/communication scholars from South-East Asia, and the UK. The workshop aimed at addressing culture- and context-specific genetic counseling/consultation practices in South-East Asia. As a way of contextualizing genetic counseling/consultation in South-East Asia, we first offer an overview of communication-oriented research generally, drawing attention to consultation and counseling as part of a communicative continuum with distinctive interactional features. We then provide examples of genetic counseling/consultation research in Hong Kong. As other countries in South-East Asia have not yet embarked on communication-oriented empirical research, we report on the current practices of genetic counseling/consultation in these countries in order to identify similarities and differences as well as key obstacles that could be addressed through future research. Three issues emerged as 'problematic': language, religion and culture. We suggest that communication-oriented research can provide a starting point for evidence-based reflections on how to incorporate a counseling mentality in genetic consultation. To conclude, we discuss the need for creating a platform for targeted training of genetic counselors based on communication-oriented research findings.

Genetic counseling training in the Philippines.

The recently established Master of Science in Genetic Counseling (MSGC) program serves a vital role in implementing and expanding genetic counseling services in the Philippines. Currently, only eight clinical geneticists practice in the Philippines, a country of approximately 94 million people, which yields a clinical-geneticist-to-population-density ratio of 1:11,750,000. The MSGC program was created to train health care providers to become crucial members of medical genetics teams being formed to meet increasing patient and healthcare provider demands. In 2011, the Board of Regents approved our proposed curriculum at the Department of Pediatrics College of Medicine, University of the Philippines Manila. As we relate how the Philippines began its efforts to implement the program and attempted to overcome the challenges the program faced, we hope we can provide an example to those interested in creating a similar MSGC program in other low-income and middle-income countries.

Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education.

Many of the countries in the Asia Pacific Region, particularly those with depressed and developing economies, are just initiating newborn screening programs for selected metabolic and other congenital disorders. The cultural, geographic, language, and economic differences that exist throughout the region add to the challenges of developing sustainable newborn screening systems. There are currently more developing programs than developed programs within the region. Newborn screening activities in the Asia Pacific Region are particularly important since births there account for approximately half of the world's births. To date, there have been two workshops to facilitate formation of the Asia Pacific Newborn Screening Collaboratives. The 1st Workshop on Consolidating Newborn Screening Efforts in the Asia Pacific Region occurred in Cebu, Philippines, on March 30-April 1, 2008, as a satellite meeting to the 7th Asia Pacific Conference on Human Genetics. The second workshop was held on June 4-5, 2010, in Manila, Philippines. Workshop participants included key policy-makers, service providers, researchers, and consumer advocates from 11 countries with 50% or less newborn screening coverage. Expert lectures included experiences in the United States and the Netherlands, international quality assurance activities and ongoing and potential research activities. Additional meeting support was provided by the U.S. National Institutes of Health, the Centers for Disease Control and Prevention, the U.S. National Newborn Screening and Genetics Resource Center, the International Society for Neonatal Screening, and the March of Dimes. As part of both meeting activities, participants shared individual experiences in program implementation with formal updates of screening information for each country. This report reviews the activities and country reports from two Workshops on Consolidating Newborn Screening Efforts in the Asia Pacific Region with emphasis on the second workshop. It also updates the literature on screening activities and implementation/expansion challenges in the participating countries.

Issues on universal screening for galactosemia.

Galactosemia is an inborn error of galactose metabolism, caused by an abnormality in the conversion of galactose and uridine diphosphoglucose to glucose-1-phosphate and uridine diphosphogalactose through the action of 3 sequential enzymes: galactokinase (GALK), galactose- 1-phosphate uridyltransferase (GALT), and uridine phosphogalactose 4-epimerase (GALE). The advent of newborn screening brought hope with early diagnosis and prompt treatment. Newborn screening advocates have pushed for inclusion of galactosemia in the newborn screening panel. However, reports of complications despite early treatment have questioned the merits of universal screening. This paper presents issues in favour and against universal newborn screening for galactosemia.

Eliminating iodine deficiency: obstacles and their removal.

Iodine deficiency remains a global concern for developing countries and some industrialised countries. Iodine deficiency is the most common cause of preventable mental retardation, posing a threat to the social and economic development of countries. Initiatives were developed and instituted to accelerate progress to achieve the goal of universal salt iodisation (USI). However, these efforts were not successful in eliminating iodine deficiency disorders (IDD) in some countries. Every year, 50 million children are born without the protection that iodine offers to the growing brain and body and about 18 million suffer some significant degree of mental impairment. The World Health Organization (WHO), United Nations Children's Fund (UNICEF) and non-governmental organisations assist to ensure that populations at risk have access to iodised salt. This paper will review the highlights of iodine deficiency and present the experiences in the various countries in Asia, i.e. assessments of the situation, action plans, and obstacles to implementation.

Towards universal newborn screening in developing countries: obstacles and the way forward.

Newborn Screening is a well recognised public health programme aimed at the early identification of infants who are affected by certain genetic/metabolic/infectious conditions. Early identification of these conditions is particularly crucial, since timely intervention can lead to a significant reduced morbidity, mortality, and associated disabilities in affected infants. Establishing sustainable newborn screening programmes in developing countries poses major challenges as it competes with other health priorities--infectious disease control, immunisation, malnutrition, etc. Despite this, it is imperative that developing countries recognise the importance of newborn screening based on experiences on both developed and developing countries in saving thousands of babies from mental retardation, death and other complications. Some of the critical factors necessary for a successful national newborn screening programme are inclusion of newborn screening among government priorities, funding (including the possibility of newborn screening fees), public acceptance, health practitioners cooperation, and government participation in institutionalising the newborn screening system. This paper presents a historical review of 4 eras of newborn screening in the Asia Pacific, discusses enabling factors leading to successful newborn screening programme implementation, and identifies obstacles that threaten the programme implementation in developing countries.

Newborn screening in the Philippines.

The Newborn Screening Study Group first introduced newborn screening in the Philippines in 1996. This group of pediatricians and obstetricians from 24 hospitals in the metropolitan Manila area developed a newborn screening program: (1) to establish the incidence of six metabolic conditions--congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, homocystinuria and glucose-6-phosphate dehydrogenase deficiency, and (2) to make recommendations for the adoption of newborn screening nationwide. Newborn screening developed in three phases: (1) routine screening for 5 disorders excluding G6PD deficiency in the 24 member hospitals in Metro Manila, (2) addition of screening for G6PD deficiency to the 5-disorder screening panel, and (3) program evaluation with subsequent reduction in the time of sample collection to 24 hrs of age or older (from the initial requirement of 48 hrs. or older) and discontinuation of screening for homocystinuria as a cost cutting measure (due to non-detection of cases). Data from 201 participating hospitals reported in September 2001 confirmed 48 cases of congenital hypothyroidism, 21 cases of congenital adrenal hyperplasia, 2 cases of galactosemia, 4 cases of hyperphenylalanemia and 1,495 cases of glucose-6-phosphate dehydrogenase deficiency. The Department of Health has recognized the significance of the initial data and efforts are now being undertaken to ensure the nationwide implementation of newborn screening.

Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in malaria endemic regions and is estimated to affect more than 400 million people worldwide. Deficient subjects are mostly asymptomatic but clinical manifestations range from neonatal jaundice due to acute hemolytic anemia to chronic non-spherocytic hemolytic anemia. To date, biochemical parameters allowed more than 400 different G6PD variants to be distinguished thereby suggesting a vast genetic heterogeneity. So far, only a small portion of this heterogeneity has been confirmed at the DNA level with the identification of about 90 different point mutations in the G6PD coding sequence. To determine the molecular background of G6PD deficiency in Southeast Asian countries, we conducted molecular analyses of G6PD patients from the Philippines, Malaysia, Singapore, Vietnam and Indonesia. The most prevalent mutation identified differs from country to country, thus suggesting independent mutational events of the G6PD gene.