Publications by authors named "Mercy Y Laurino"

10 Publications

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

J Community Genet 2019 Apr 27;10(2):281-289. Epub 2018 Sep 27.

College of Social Sciences and Philosophy, University of the Philippines Diliman, Quezon City, Philippines.

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.
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http://dx.doi.org/10.1007/s12687-018-0391-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435779PMC
April 2019

Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry.

Mol Genet Genomic Med 2017 11 23;5(6):700-708. Epub 2017 Aug 23.

Department of Bioethics and Humanities, University of Washington, Seattle, Washington, USA.

Background: The extent to which participants act to clinically verify research results is largely unknown. This study examined whether participants who received Lynch syndrome (LS)-related findings pursued researchers' recommendation to clinically verify results with testing performed by a CLIA-certified laboratory.

Methods: The Fred Hutchinson Cancer Research Center site of the multinational Colon Cancer Family Registry offered non-CLIA individual genetic research results to select registry participants (cases and their enrolled relatives) from 2011 to 2013. Participants who elected to receive results were counseled on the importance of verifying results at a CLIA-certified laboratory. Twenty-six (76.5%) of the 34 participants who received genetic results completed 2- and 12-month postdisclosure surveys; 42.3% of these (11/26) participated in a semistructured follow-up interview.

Results: Within 12 months of result disclosure, only 4 (15.4%) of 26 participants reported having verified their results in a CLIA-certified laboratory; of these four cases, all research and clinical results were concordant. Reasons for pursuing clinical verification included acting on the recommendation of the research team and informing future clinical care. Those who did not verify results cited lack of insurance coverage and limited perceived personal benefit of clinical verification as reasons for inaction.

Conclusion: These findings suggest researchers will need to address barriers to seeking clinical verification in order to ensure that the intended benefits of returning genetic research results are realized.
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http://dx.doi.org/10.1002/mgg3.328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702564PMC
November 2017

Enhanced retinal responses in Huntington's disease patients.

J Huntingtons Dis 2017 ;6(3):237-247

Department of Neurology, University of Washington, Seattle, WA, USA.

Background: Huntington's disease (HD) is a fatal progressive neurodegenerative disease characterized by chorea, cognitive impairment and psychiatric symptoms. Retinal examination of HD patients as well as in HD animal models have shown evidence of retinal dysfunction. However, a detailed retinal study employing clinically available measurement tools has not been reported to date in HD.

Objective: The goal of this study was to assess retinal responses measured by electroretinogram (ERG) between HD patients and controls and evaluate any correlation between ERG measurements and stage of disease.

Methods: Eighteen patients and 10 controls with inclusion criteria of ages 18-70 years (average age HD subjects: 52.1 yrs and control subjects: 51.9 yrs) were recruited for the study. Subjects with previous history of retinal or ophthalmologic disease were excluded. Retinal function was examined by full-field ERG in both eyes of each subject. Amplitudes and latencies to increasing flash intensities in both light- and dark-adaptation were measured in all subjects. Statistical analyses employed generalized estimating equations, which account for repeated measures per subject.

Results: We analyzed the b-wave amplitudes of ERG response in all flash intensities and with 30 Hz flicker stimulation. We found statistically significant increased amplitudes in HD patients compared to controls at light-adapted (photopic) 24.2 and 60.9 cd.sec/m2 intensities, dark-adapted (scotopic, red flash) 0.22 cd.sec/m2 intensity, and a trend toward significance at light-adapted 30 Hz flicker. Furthermore, we found a significant increase in light-adapted ERG response from female compared to male HD patients, but no significant difference between gender amongst controls. We also noted a positive association between number of CAG repeats and ERG response at the smallest light adapted intensity (3.1 cd.sec/m2).

Conclusions: ERG studies revealed significantly altered retinal responses at multiple flash intensities in subjects with an HD expansion allele compared to controls. Significant differences were observed with either light-adapted tests or the dark-adapted red flash which suggests that the enhanced responses in HD patients is specific to the cone photoreceptor pathway.
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http://dx.doi.org/10.3233/JHD-170255DOI Listing
May 2018

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.

J Genet Couns 2018 02 11;27(1):21-32. Epub 2017 Jul 11.

Department of Pediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

The Professional Society of Genetic Counselors in Asia (PSGCA) was recently established as a special interest group of the Asia Pacific Society of Human Genetics. Fostering partnerships across the globe, the PSGCA's vision is to be the lead organization that advances and mainstreams the genetic counseling profession in Asia and ensures individuals have access to genetic counseling services. Its mission is to promote quality genetic counseling services in the region by enhancing practice and curricular standards, research and continuing education. The PSGCA was formally launched during the Genetic Counseling Pre-Conference Workshop held at the 11th Asia-Pacific Conference on Human Genetics in Hanoi, Viet Nam, September 16, 2015. The pre-conference workshop provided an opportunity for medical geneticists and genetic counselors from across 10 Asia Pacific countries to learn about the varied genetic counseling practices and strategies for genetic counseling training. This paper provides an overview of the current status and challenges in these countries, and proposed course of unified actions for the future of the genetic counseling profession.
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http://dx.doi.org/10.1007/s10897-017-0115-6DOI Listing
February 2018

Identifying opportunities for collaboration and growth of genetic counseling services in the Asia Region.

J Community Genet 2017 Jul 25;8(3):243-248. Epub 2017 May 25.

Group Health Cooperative, Seattle, WA, USA.

The Genetic Counseling Pre-Conference Workshop (GCPCW) was held on September 16, 2015, in Hanoi, Vietnam. We report the GCPCW outcomes obtained from pre- and post-conference questionnaires, case-review breakout session, and an open discussion of needs for genetic counseling services in the Asia region. The GCPCW participants completed questionnaires with closed- and open-ended questions regarding the status and needs of providing genetic counseling services in Asia. Utilizing thematic content analysis, common themes shared during the case-review breakout session are summarized and survey results are tabulated. Of the 71 participants, pre- and post-conference questionnaires were returned by 57 (80%) and 44 (62%) individuals, respectively. Of the 42 participants who did not identify themselves as students in training, 36 (86%) stated they are currently providing genetic counseling services. Participants cited that the most useful information obtained during the GCPCW related to the status of genetic counseling services in the region, discovery of shared challenges, professional networking, and the need to establish genetic counseling training programs and its accreditation. The GCPCW provided a collaborative forum to address current challenges and needs of genetic counseling services in the region. Strategies were identified to foster genetic counseling training and clinical service opportunities.
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http://dx.doi.org/10.1007/s12687-017-0307-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496845PMC
July 2017

Communication about Congenital Adrenal Hyperplasia: Perspective of Filipino Families.

J Genet Couns 2017 Aug 10;26(4):763-775. Epub 2016 Nov 10.

Department of Pediatrics, College of Medicine, University of the Philippines Manila, Manila, Philippines.

Congenital adrenal hyperplasia (CAH), like other genetic conditions, is a relational disease from both the biological and psychosocial perspectives since the diagnosis gives rise to a variety of health, reproductive, and psychosocial implications. It is in these contexts that family communication of genetic information is important to study. Hence, this research aimed to explore genetic information communication in Filipino families affected with CAH. Using a qualitative descriptive design, families with a child affected with CAH were recruited through the CAH parent support group and were interviewed. Semi-structured interviews explored flow and content of genetic information communicated, the meanings the families attach to the communicated information, and the motivating and hindering factors in communication. Thematic analysis was used to analyze the findings. A total of five families participated, which included 11 individuals. Findings revealed that the diagnosis of CAH is not kept secret and it is openly shared with the family. The decision to communicate is influenced by several factors including the family's desire to seek further information about their family history. Initially, the focus of the communicated information is on the health implications and while communication about genetics occurs, this is almost always confined to the immediate family. The mother and grandmother serve as primary communicators in the family. The families have limited understanding of CAH especially its genetic implications including recurrence risk and carrier status. The findings can guide genetic counselors in supporting families in communicating information about CAH with the rest of the family.
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http://dx.doi.org/10.1007/s10897-016-0043-xDOI Listing
August 2017

Neurochemical correlates of caudate atrophy in Huntington's disease.

Mov Disord 2014 Mar 17;29(3):327-35. Epub 2014 Jan 17.

Department of Radiology, University of Washington School of Medicine, Seattle, Washington, USA; Integrated Brain Imaging Center, University of Washington School of Medicine, Seattle, Washington, USA.

The precise pathogenic mechanisms of Huntington's disease (HD) are unknown but can be tested in vivo using proton magnetic resonance spectroscopy ((1)H MRS) to measure neurochemical changes. The objective of this study was to evaluate neurochemical differences in HD gene mutation carriers (HGMCs) versus controls and to investigate relationships among function, brain structure, and neurochemistry in HD. Because previous (1)H MRS studies have yielded varied conclusions about HD neurochemical changes, an additional goal was to compare two (1)H MRS data analysis approaches. HGMCs with premanifest to early HD and controls underwent evaluation of motor function, magnetic resonance imaging, and localized (1)H MRS in the caudate and the frontal lobe. Analytical approaches that were tested included absolute quantitation (unsuppressed water signal as an internal reference) and relative quantification (calculating ratios of all neurochemical signals within a voxel). We identified a suite of neurochemicals that were reduced in concentration proportionally to loss of caudate volume in HGMCs. Caudate concentrations of N-acetylaspartate (NAA), creatine, choline, and caudate and frontal lobe concentrations of glutamate plus glutamine (Glx) and glutamate were correlated with caudate volume in HGMCs. The relative, but not the absolute, quantitation approach revealed disease-related differences; the Glx signal was decreased relative to other neurochemicals in the caudate of HGMCs versus controls. This is the first study to demonstrate a correlation among structure, function, and chemical measures in HD brain. Additionally, we demonstrate that a relative quantitation approach may enable the magnification of subtle differences between groups. Observation of decreased Glx suggests that glutamate signaling may be disrupted relatively early in HD, which has important implications for therapeutic approaches.
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http://dx.doi.org/10.1002/mds.25801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960319PMC
March 2014

Longitudinal diffusion tensor imaging in Huntington's Disease.

Exp Neurol 2009 Apr;216(2):525-9

Department of Radiology, University of Washington School of Medicine, Box #357115, Seattle, WA 98195, USA.

Serial diffusion tensor imaging scans were collected at baseline and 1 year follow-up to investigate the neurodegenerative profile of white matter (WM) in seven individuals with the Huntington's Disease (HD) gene mutation and seven control subjects matched on age and gender. In the HD subjects, but not controls, a significant reduction of fractional anisotropy (FA), a measure of WM integrity, between baseline and followup was evident throughout the brain. In addition, a DTI scalar associated with the stability of axons, axial diffusivity, showed significant longitudinal decreases from year 1 to year 2 in HD subjects, declines that overlapped to greater degree with FA discrepancies than longitudinal increases in radial diffusivity, a DTI variable sensitive to demylinization. These preliminary results provide the first longitudinal DTI evidence of WM degeneration in HD and support the notion that FA abnormalities in HD may be a result of axonal injury or withdrawal. These results suggest that longitudinal FA changes may serve as a neuropathological biomarker in HD.
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http://dx.doi.org/10.1016/j.expneurol.2008.12.026DOI Listing
April 2009

Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors.

J Genet Couns 2005 Jun;14(3):165-81

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA.

The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fetal medicine, internal medicine, infectious disease, cytogenetics, and coagulation disorders. The IPLWG defines RM as three or more clinically recognized consecutive or non-consecutive pregnancy losses occurring prior to fetal viability (<24 weeks gestation). These recommendations are provided to assist genetic counselors and other health care providers in clinical decision-making, as well as to promote consistency of patient care, guide the allocation of medical resources, and increase awareness of the psychosocial and cultural issues experienced by couples with RM. The IPLWG was convened with support from the March of Dimes Western Washington State Chapter and the University of Washington Division of Medical Genetics. The recommendations are U.S. Preventive Task Force Class III, and are based on clinical experiences, review of pertinent English-language published articles, and reports of expert committees. This document reviews the suspected causes of RM, provides indications for genetic evaluation and testing, addresses psychosocial and cultural considerations, and provides professional and patient resources. These recommendations should not be construed as dictating an exclusive course of medical management, nor does the use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the circumstances of a specific case, should always supersede these recommendations.
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http://dx.doi.org/10.1007/s10897-005-3241-5DOI Listing
June 2005