Landscape of genetic counseling in the Philippines.

In this paper, we report on the professional development of genetic counselors in the Philippines as we discuss the status of genetic counseling training and research, along with the roles and scope of practice of genetic counselors. The development of a master's level training program for non-physician genetic counselors in the Philippines initiated in 2011 was in response to the increasing demand for genetic counseling services. There are currently 18 locally trained genetic counselors who are practicing in various fields including newborn screening, pediatrics, cancer, prenatal and preconception, neurology, and research. Despite the success of the genetic counseling training program, various professional challenges hinder maximizing the impact of genetic counselors in the health system. The challenges discussed in this paper include the limited number of genetic counselors, the lack of government positions officially recognizing the 'genetic counselor' title, and the absence of a regulatory framework. These issues require thorough discussion with appropriate government agencies and collaboration with other healthcare professional organizations with the ultimate goal of ensuring quality genetic counseling services nationwide.

Genetic counseling in the time of COVID-19: The Philippine experience with telegenetics.

The COVID-19 pandemic poses a significant challenge to healthcare professionals and health systems around the world, most notably the disruption of its service delivery. The typical work setting for most genetic counselors (GCs) is in a clinic or hospital. However, during the COVID-19 pandemic, to help prevent the further spread of the virus, clinics and hospitals have restricted non-urgent in-person delivery of healthcare services, including genetic counseling. Patients' access to genetic counseling services has thus been limited, which prompted GCs in the country to utilize an alternative way to provide counseling through telegenetics. With the expansion of genetic services in the country, including the full implementation of expanded newborn screening, there is an increasing demand for genetic counseling and a growing need for telegenetics.

Caring Behavior of Filipinos toward their Elderly Family Members.

The Philippines has an increasingly aging population thereby increasing the demand for healthcare and support from families. Studies showed that the family is the main caregiver of elderly parents/adults as dictated by the Filipino culture of filial piety and respectful behavior towards older people. However, this caring culture is now slowly declining, and Filipino older adults also experience abuse, exploitation, and other forms of neglect from their families. This special article described that the declining caring culture was due to deteriorating family values and societal influences brought about by modernization. This paper also highlights the crucial role of the family and the community in inculcating the preservation of this valued caring Filipino culture, especially among the youth. In cases where senior citizens are being abused and neglected by their families, the state steps in to safeguard the welfare and protection of Filipino senior citizens. Enacted and promulgated laws ensure social justice and protection of human dignity among Filipino older adults as well as the provision of socioeconomic and health needs. In conclusion, the preservation of a caring culture through educating the youth coupled with the implementation of enacted and promulgated laws of the country ensures the quality of aging life among Filipino older adults.

Attitudes of Filipino parents of children with Down syndrome on noninvasive prenatal testing.

Globally, there has been an increasing uptake of noninvasive prenatal testing (NIPT). In the Philippines, the test is currently available through private laboratories and can be availed by families who can afford the out-of-pocket cost. In a country where elective termination of pregnancy is not an option, the question arises as to the relevance of this testing, even among health professionals. This is an exploratory qualitative study that explored the attitudes of Filipino parents of children with Down syndrome (DS) toward NIPT using thematic analysis of in-depth interviews. Study participants acknowledged the value of NIPT in providing early diagnosis and, subsequently, emotional, mental, spiritual, and financial preparation. This said, they also emphasized that such early detection may cause anxiety and even thoughts of termination for some, despite abortion being against the law and predominant religious beliefs. For those undergoing NIPT and receiving positive results, study participants highlighted the need to receive proper and nonbiased counseling from both health professionals and parents who have children with DS.

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.

External validation of machine learning models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants.

Background: Postnatal gestational age (GA) algorithms derived from newborn metabolic profiles have emerged as a novel method of acquiring population-level preterm birth estimates in low resource settings. To date, model development and validation have been carried out in North American settings. Validation outside of these settings is warranted.   Methods: This was a retrospective database study using data from newborn screening programs in Canada, the Philippines and China. ELASTICNET machine learning models were developed to estimate GA in a cohort of infants from Canada using sex, birth weight and metabolomic markers from newborn heel prick blood samples. Final models were internally validated in an independent sample of Canadian infants, and externally validated in infant cohorts from the Philippines and China.  Results: Cohorts included 39,666 infants from Canada, 82,909 from the Philippines and 4,448 from China.  For the full model including sex, birth weight and metabolomic markers, GA estimates were within ±5 days of ultrasound values in the Canadian internal validation (mean absolute error (MAE) 0.71, 95% CI: 0.71, 0.72), and within ±6 days of ultrasound GA in both the Filipino (0.90 (0.90, 0.91)) and Chinese cohorts (0.89 (0.86, 0.92)). Despite the decreased accuracy in external settings, our models incorporating metabolomic markers performed better than the baseline model, which relied on sex and birth weight alone. In preterm and growth-restricted infants, the accuracy of metabolomic models was markedly higher than the baseline model. Conclusions: Accuracy of metabolic GA algorithms was attenuated when applied in external settings.  Models including metabolomic markers demonstrated higher accuracy than models using sex and birth weight alone. As innovators look to take this work to scale, further investigation of modeling and data normalization techniques will be needed to improve robustness and generalizability of metabolomic GA estimates in low resource settings, where this could have the most clinical utility.

Risk perception and screening behavior of Filipino women at risk for breast cancer: implications for cancer genetic counseling.

The burden and experiences that come with a breast cancer diagnosis in a family impact how women perceive personal cancer risk and pursue preventive strategies and/or early detection screening. Hence, this study sought to understand how Filipino women incorporate their experiences living with a sister diagnosed with early-onset breast cancer to their personal perceived risk and screening behavior. Guided by phenomenological approach of inquiry, a face-to-face, semi-structured interview was conducted with 12 purposively sampled women with a female sibling diagnosed with breast cancer before age 50. Transcripts were analyzed using thematic analysis. Results revealed that the respondents tend to compare themselves with their sister when constructing views of personal cancer vulnerability. The subjective risk is also shaped by their beliefs regarding cancer causation such as personalistic causes, personal theory of inheritance, and locus of control. Their sisters' cancer diagnoses serve as a motivation for them to perform breast self-examination. However, clinical breast examination and screening mammography are underutilized due to perceived barriers such as difficulty allotting time to medical consultation, fear, and lack of finances. Overall, cancer risk perception and screening behavior are important factors that must be addressed during cancer genetic counseling consultations. Better understanding of these factors will aid in the formulation of an effective management plan for at-risk women.

Occurrence of birth defects at the Philippine General Hospital: 2001-2010

Introduction. Birth defects are global problem with impact particularly severe in middle - to low -income countries. In the Philippines, there is a limited data on birth defects despite the fact that congenital anomalies have been in the top 10 causes of infant mortality. The objectives of the study were: 1.) to determine the occurrence of birth defects among patients admitted to the Philippine General Hospital (PGH); 2.) To present the distribution of patients by geographic location and age group distribution; 3.) To categorize birth defects by organ systems; and 4.) To categorize birth defects as either isolated, part of a recognizable syndrome, chromosomal syndrome of multi-malformed case. Methods. Patients admitted to PGH from 2001-2010 and to have major structural defects were included in this study. Case ascertainment was done through a review of medical records of all admitted patients age 0 to more than 65 years old. Patients with birth defects was assigned codes of International Classification of Diseases (ICD)-10 classification. Results. Of the 438,944 admissions to the PGH from 2001 to 2010, there were 8,686 (2.0%) patients with a diagnosis of at least one (1) birth defect. The most common birth defects are as follows: digestive system (3,605/8,686 or 41.5%), cardiovascular system (,839/8,686 or 32.7%), nervous system (1,070/8,686 or .3%) and genital organ anomalies (755/8,686 or 8.7%). The common digestive system anomalies were cleft lip and /or palate (1,548/8,686 or 17.8%), imperforate anus (698/8,686 or 8%) and hirschsprung disease (582/8,686 or 6.7%). Most of the cardiovascular system anomalies were congenital malformations of the cardiac septa (1,160/8,686 or 13.4%) and the great arteries (769/8,686 or 8.9%), while almost of the nervous system anomalies were due to congenital hydrocephalus (347/8,686 or 4%), encephalocoele (303/8,686 or 3.5%) and spina bifida (193/8,686 or 2.%) The most common genital organ anomalies were hypospadias (340/8,686 or 3.9%) and undescended testicle (233/8,686 or 2.7%) Majority (4,042/8,686 or 46.5%) of birth defect cases came from the National Capital Region (NCR) while 32.5% (or 2,87/8.686) of the cases came from region IV-A or Cavite, Laguna, Batangas , Rizal and Quezon (CALABARZON) Region. Conclusion. The results of this study show that the most common birth defects are digestive, cardiovascular, nervous system, and genital organ anomalies. This trend is similar to those reported internationally. The findings of the study can be the basis of policies toward the development and implementation of practical strategies for primary and secondary prevention of birth defects among Filipinos.