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.

Establishing a natural history of X-linked dystonia parkinsonism.

X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men whose mothers originate from the island of Panay, Philippines. Current evidence indicates that the most likely cause is an expansion in the TAF1 gene that may be amenable to treatment. To prepare for clinical trials of therapeutic candidates for X-linked dystonia parkinsonism, we focused on the identification of quantitative phenotypic measures that are most strongly associated with disease progression. Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease progression in persons with X-linked dystonia parkinsonism. These measures will set the stage for future treatment trials. We enrolled patients with X-linked dystonia parkinsonism and performed a comprehensive oromotor, speech and neurological assessment. Measurements included patient-reported questionnaires regarding daily living activities and both neurologist-rated movement scales and objective quantitative measures of bulbar function and nutritional status. Patients were followed for 18 months from the date of enrollment and evaluated every 6 months during that period. We analysed a total of 87 men: 29 were gene-positive and had symptoms at enrollment, seven were gene-positive and had no symptoms at enrollment and 51 were gene-negative. We identified measures that displayed a significant change over the study. We used principal variables analysis to identify a minimal battery of 21 measures that explains 67.3% of the variance over the course of the study. These measures included patient-reported, clinician-rated and objective quantitative outcomes that may serve as endpoints in future clinical trials.

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.