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McWalter K.,Genetics Program | Gaviglio A.,Newborn Screening Program
Journal of Genetic Counseling | Year: 2015

This special issue of the Journal of Genetic Counseling is dedicated to public health genetics and genomics. The seventeen papers featured in this issue span such topics as genetic counselors in public health roles, newborn screening, population screening, ethics, and health beliefs and behaviors. In this introduction to the special issue, we review some history of public health genetics and genomics, present the Centers for Disease Control and Prevention's “10 Essential Public Health Services” with associated geneticsspecificrecommendations and priorities, and briefly overview how each article ties into the world of public health genetics and genomics. We hope this issue encourages genetic counselors to visualize their everexpanding and important roles in public health genetics and genomics, as well as their contributions to improving population health. © 2015, Springer Science+Business Media New York (Outside the USA). Source


Atypical hemolytic uremic syndrome (aHUS) is characterized by thrombocytopenia, microangiopathic hemolytic anemia, and acute kidney injury (AKI) which frequently progresses to end-stage renal disease (ESRD). In 50% of affected patients, mutations in complement regulatory proteins cause inappropriate complement activation with endothelial injury. Complement factor H (CFH) mutations cause 25% of aHUS cases; these patients have an 80% recurrence risk after kidney transplantation. Eculizumab, an anti-C5 antibody, is effective in limiting hemolysis episodes in patients with aHUS, but less is known about preventing recurrence after kidney transplantation. Herein we report the use of prophylactic eculizumab in an adult with aHUS who underwent kidney transplantation. A 31-year-old female presented with aHUS and progressive AKI associated with low complement 3 level leading to ESRD despite plasmapheresis and corticosteroids. She had a heterozygous nonsense mutation in CFH and reduced plasma CFH levels. She was given preoperative plasmapheresis and eculizumab and underwent living unrelated renal transplantation. Postoperatively, eculizumab was dosed to achieve low functional complement 5 levels and low soluble membrane attack complex levels and she has maintained excellent graft function without aHUS recurrence. We propose that eculizumab with titrated dosing should be used in CFH-mediated aHUS patients who are at a high risk of recurrence. Source


Zlot A.I.,Genetics Program | Silvey K.,Oregon Health And Science University | Coates R.J.,Centers for Disease Control and Prevention
Preventing Chronic Disease | Year: 2012

Few population-based studies have addressed the role that family history of colorectal cancer (CRC) plays in clinician decision making or patient health choices. The objective of this study was to evaluate the effect of family history of CRC on clinician practice, patient CRC screening, and patient preventive behavior. We analyzed 2008 Oregon Behavioral Risk Factor Surveillance System data to examine associations between family history of CRC and 1) patient-reported clinician recommendations, 2) perceived risk of developing CRC, 3) adoption of preventive and screening behaviors, and 4) CRC risk factors among 1,795 respondents without CRC. A family history of CRC was positively associated with a higher likelihood of respondents reporting that their clinicians discussed colorectal cancer screening (OR, 4.2; 95% CI, 2.4-7.4) and of respondents having colorectal screening within the recommended time period (OR, 2.2; 95% CI, 1.3-3.9). A family history of CRC was also associated with respondents reporting lifestyle changes to prevent CRC (OR, 2.6; 95% CI, 1.7-4.0). A family history of CRC may prompt clinicians to recommend screening and preventive behavior changes and motivate patients to adopt such strategies. Source


Meschino W.S.,Genetics Program | Kantor P.F.,The Hospital for Sick Children
Human Pathology | Year: 2010

Pediatric cardiomyopathies are a heterogenous group of conditions of which dilated cardiomyopathies are the most common clinicomorphologic subtype. However, the etiology and pathogenesis of many cases of dilated cardiomyopathies remain unknown. We describe a series of 5 cases of a rare but clinically and histologically distinctive dilated cardiomyopathy that was uniformly lethal in early infancy. The 5 cases include 2 pairs of siblings. There was parental consanguinity in 1 of the 2 pairs of siblings. Death occurred in early infancy (range, 22-67 days; mean, 42 days) after a short history of general lethargy, decreased feeding, respiratory distress, or cyanosis. There was no specific birth or early neonatal problems. Autopsy revealed congestive cardiac failure and enlarged, dilated hearts with ventricular dilatation more pronounced than atrial dilatation, and endocardial fibroelastosis. Histology showed prominent hypertrophic nuclear changes of cardiac myofibers and markedly increased myocyte mitotic activity including occasional atypical mitoses. Immunohistochemical staining for Mib1 showed a markedly increased proliferative index of 10% to 20%. Ancillary investigations, including molecular studies, did not reveal a primary cause for the cardiomyopathies. This distinctive dilated cardiomyopathy characterized by unusual histologic features of myocyte nuclear hypertrophy and marked mitotic activity is lethal in early infancy. Its occurrence in 2 pairs of siblings suggests familial inheritance. Although the underlying molecular pathogenesis remains to be elucidated, it is important to recognize this distinctive entity for purposes of genetic counseling. © 2010 Elsevier Inc. All rights reserved. Source


Guzauskas G.F.,University of Washington | Garrison L.P.,University of Washington | Stock J.,Seattle Childrens Center for Children with Special Needs | Au S.,Genetics Program | And 2 more authors.
Genetics in Medicine | Year: 2013

Purpose:Genetic services policymakers and insurers often make coverage decisions in the absence of complete evidence of clinical utility and under budget constraints. We evaluated genetic services stakeholder opinions on the potential usefulness of decision-Analytic modeling to inform coverage decisions, and asked them to identify genetic tests for decision-Analytic modeling studies.Methods:We presented an overview of decision-Analytic modeling to members of the Western States Genetic Services Collaborative Reimbursement Work Group and state Medicaid representatives and conducted directed content analysis and an anonymous survey to gauge their attitudes toward decision-Analytic modeling. Participants also identified and prioritized genetic services for prospective decision-Analytic evaluation.Results:Participants expressed dissatisfaction with current processes for evaluating insurance coverage of genetic services. Some participants expressed uncertainty about their comprehension of decision-Analytic modeling techniques. All stakeholders reported openness to using decision-Analytic modeling for genetic services assessments. Participants were most interested in application of decision-Analytic concepts to multiple-disorder testing platforms, such as next-generation sequencing and chromosomal microarray.Conclusion:Decision- Analytic modeling approaches may provide a useful decision tool to genetic services stakeholders and Medicaid decision-makers.Genet Med 2013:15(1):84-87. © American College of Medical Genetics and Genomics. Source

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