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Fisch G.S.,New York University | Carpenter N.,Center for Genetic Testing | Howard-Peebles P.N.,Genetics and IVF Institute | Holden J.J.A.,Queen's University | And 3 more authors.
American Journal on Intellectual and Developmental Disabilities | Year: 2012

Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We recruited 106 children diagnosed with fragile X, Williams-Beuren syndrome, or Wolf-Hirschhorn syndrome, assessing their intellectual and adaptive behavior abilities. We retested 61 children 2 years later. We compared Time 1 and Time 2 difference scores related to genetic disorder, age, initial IQ, or adaptive behavior composite. Results show genetic disorder and initial IQ score were significant factors for IQ differences, but only genetic disorder affected adaptive behavior differences. Results suggest different gene-brain-behavior pathways likely exist for these genetic disorders. Different developmental trajectories will influence the type and intensity of intervention implemented by caregivers. © EAAIDD.


Mascarello J.T.,Genzyme | Hirsch B.,University of Minnesota | Kearney H.M.,Fullerton Genetics Center | Ketterling R.P.,Rochester College | And 6 more authors.
Genetics in Medicine | Year: 2011

This updated Section E9 has been incorporated into and supersedes the previous Section E9 in Section E: Clinical Cytogenetics of the 2008 Edition (Revised 02/2007) American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories. This section deals specifically with the standards and guidelines applicable to fluorescence in situ hybridization analysis. © 2011 Lippincott Williams & Wilkins.


South S.T.,Arup | South S.T.,University of Utah | Lee C.,Harvard University | Lamb A.N.,Arup | And 3 more authors.
Genetics in Medicine | Year: 2013

Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism-detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. This technology also has applicability in prenatal specimens. To assist clinical laboratories in validation of microarray methodologies for constitutional applications, the American College of Medical Genetics and Genomics has produced the following revised professional standards and guidelines. © American College of Medical Genetics and Genomics.


Dressler L.G.,Fullerton Genetics Center | Deal A.M.,University of North Carolina at Chapel Hill | Patel J.,Levine Cancer Institute | Markey J.,University of North Carolina at Chapel Hill | And 2 more authors.
Personalized Medicine | Year: 2014

Aim: The study aim was to understand physician experience and factors influencing the adoption of cancer pharmacogenomic (caPGx) testing by oncologists practicing in academic and nonacademic settings. Method: Anonymous paper surveys were distributed to oncologists practicing in North Carolina (USA). Results: Although 98% of oncologists see promise in utilizing PGx tests in their practice, few were comfortable with their knowledge (33%) or interpreting test results (37%). At one site, the survey was not distributed due to clinician unfamiliarity with the term 'pharmacogenomics'. Compared with oncologists in academia, community oncologists were more likely to order the new Oncotype Dx™ test for colon cancer (33% vs 0; p = 0.0071), more likely to indicate future use of caPGx tests (94 vs 75%; p = 0.012) and less likely to have never ordered a caPGx test (2 vs 35%%; p < 0.001). Nearly every oncologist was interested in additional PGx education. Conclusion: A critical need exists to disseminate accurate and updated caPGx information to oncologists practicing in both academic and nonacademic settings. © 2014 Future Medicine Ltd.


Rehder C.W.,Duke University | David K.L.,Metropolitan Hospital Center | David K.L.,New York Methodist Hospital | Hirsch B.,University of Minnesota | And 3 more authors.
Genetics in Medicine | Year: 2013

Genomic testing, including single-nucleotide polymorphism-based microarrays and whole-genome sequencing, can detect long stretches of the genome that display homozygosity. The presence of these segments, when distributed across multiple chromosomes, can indicate a familial relationship between the proband's parents. This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific parental relationship. It is designed to guide the documentation of suspected consanguinity by clinical laboratory professionals and to alert laboratories to the need to establish a reporting policy in conjunction with their ethics review committee and legal counsel. © American College of Medical Genetics and Genomics.


Kearney H.M.,Fullerton Genetics Center | South S.T.,University of Utah | Wolff D.J.,Medical University of South Carolina | Lamb A.,Signature | And 2 more authors.
Genetics in Medicine | Year: 2011

Genomic copy number microarrays have significantly increased the diagnostic yield over a karyotype for clinically significant imbalances in individuals with developmental delay, intellectual disability, multiple congenital anomalies, and autism, and they are now accepted as a first tier diagnostic test for these indications. As it is not feasible to validate microarray technology that targets the entire genome in the same manner as an assay that targets a specific gene or syndromic region, a new paradigm of validation and regulation is needed to regulate this important diagnostic technology. We suggest that these microarray platforms be evaluated and manufacturers regulated for the ability to accurately measure copy number gains or losses in DNA (analytical validation) and that the subsequent interpretation of the findings and assignment of clinical significance be determined by medical professionals with appropriate training and certification. To this end, the American College of Medical Genetics, as the professional organization of board-certified clinical laboratory geneticists, herein outlines recommendations for the design and performance expectations for clinical genomic copy number microarrays and associated software intended for use in the postnatal setting for detection of constitutional abnormalities. © 2011 Lippincott Williams & Wilkins.


Kearney H.M.,Fullerton Genetics Center | Thorland E.C.,Rochester College | Brown K.K.,Harvard University | Quintero-Rivera F.,University of California at Los Angeles | South S.T.,University of Utah
Genetics in Medicine | Year: 2011

Genomic microarrays used to assess DNA copy number are now recommended as first-tier tests for the postnatal evaluation of individuals with intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. Application of this technology has resulted in the discovery of widespread copy number variation in the human genome, both polymorphic variation in healthy individuals and novel pathogenic copy number imbalances. To assist clinical laboratories in the evaluation of copy number variants and to promote consistency in interpretation and reporting of genomic microarray results, the American College of Medical Genetics has developed the following professional guidelines for the interpretation and reporting of copy number variation. These guidelines apply primarily to evaluation of constitutional copy number variants detected in the postnatal setting. © 2011 Lippincott Williams & Wilkins.


Riggs E.R.,Emory University | Church D.M.,U.S. National Center for Biotechnology Information | Hanson K.,Sequenom | Horner V.L.,Emory University | And 11 more authors.
Clinical Genetics | Year: 2012

The evidence-based review (EBR) process has been widely used to develop standards for medical decision-making and to explore complex clinical questions. This approach can be applied to genetic tests, such as chromosomal microarrays, in order to assist in the clinical interpretation of certain copy number variants (CNVs), particularly those that are rare, and guide array design for optimal clinical utility. To address these issues, the International Standards for Cytogenomic Arrays Consortium has established an EBR Work Group charged with building a framework to systematically assess the potential clinical relevance of CNVs throughout the genome. This group has developed a rating system enumerating the evidence supporting or refuting dosage sensitivity for individual genes and regions that considers the following criteria: number of causative mutations reported; patterns of inheritance; consistency of phenotype; evidence from large-scale case-control studies; mutational mechanisms; data from public genome variation databases; and expert consensus opinion. The system is designed to be dynamic in nature, with regions being reevaluated periodically to incorporate emerging evidence. The evidence collected will be displayed within a publically available database, and can be used in part to inform clinical laboratory CNV interpretations as well as to guide array design. © 2011 John Wiley & Sons A/S.


Dressler L.G.,Fullerton Genetics Center | Jones S.S.,University of North Carolina at Chapel Hill | Markey J.M.,University of North Carolina at Chapel Hill | Byerly K.W.,University of North Carolina at Chapel Hill | Roberts M.C.,University of North Carolina at Chapel Hill
Genetic Testing and Molecular Biomarkers | Year: 2014

Aims: For more than two decades genomic education of the public has been a significant challenge. As genomic information becomes integrated into daily life and routine clinical care, the need for public education is even more critical. We conducted a pilot study to learn how genomic researchers and ethical, legal, and social implications advisors who were affiliated with large-scale genomic variation studies have approached the issue of educating the public about genomics. Methods/Results: Semi-structured telephone interviews were conducted with researchers and advisors associated with the SNP/HAPMAP studies and the Cancer Genome Atlas Study. Respondents described approach(es) associated with educating the public about their study. Interviews were audio-recorded, transcribed, coded, and analyzed by team review. Although few respondents described formal educational efforts, most provided recommendations for what should/could be done, emphasizing the need for an overarching entity(s) to take responsibility to lead the effort to educate the public. Opposing views were described related to: who this should be; the overall goal of the educational effort; and the educational approach. Four thematic areas emerged: What is the rationale for educating the public about genomics?; Who is the audience?; Who should be responsible for this effort?; and What should the content be? Policy issues associated with these themes included the need to agree on philosophical framework(s) to guide the rationale, content, and target audiences for education programs; coordinate previous/ongoing educational efforts; and develop a centralized knowledge base. Suggestions for next steps are presented. Conclusion: A complex interplay of philosophical, professional, and cultural issues can create impediments to genomic education of the public. Many challenges, however, can be addressed by agreement on a guiding philosophical framework(s) and identification of a responsible entity(s) to provide leadership for developing/overseeing an appropriate infrastructure to support the coordination/integration/sharing and evaluation of educational efforts, benefiting consumers and professionals. © Mary Ann Liebert, Inc.


Fisch G.S.,New York University | Carpenter N.,Center for Genetic Testing | Howard-Peebles P.N.,Genetics and IVF Institute | Holden J.J.A.,Queen's University | And 2 more authors.
American Journal of Medical Genetics, Part A | Year: 2010

The course of cognitive-behavioral development in children with intellectual disabilities produced by genetic disorders has only recently begun to be examined systematically. Unfortunately, these studies are few in number. Previously, we examined cognitive-behavioral development in children with the fragile X(FMR1) mutation and found longitudinal decreases in both IQ and adaptive behavior (DQ) scores in most males and females with the full mutation. In this study, we examine longitudinal changes in IQ andDQ in children with neurofibromatosis type 1 (NF1) and Williams-Beuren Syndrome (WBS) by examining differences in composite IQ and DQ scores between the first test (T1) and retest (T2), and compare their developmental trajectory to children with the FMR1 mutation. Sixty-five children with the FMR1 mutation, or NF1, or WBS, ages 4-16 years, were retested two years after initial testing with the Stanford-Binet 4th Edition (SBFE) and the Vineland Adaptive Behavior Scale (VABS). In addition to significant longitudinal declines in IQ and DQnoted previously in children with the FMR1 mutation, we found significant decreases in IQ in males compared to females in the remainder of our sample. We also observed statistically signifi-cant decreases inDQscores among children the FMR1 mutation, as noted previously, but not among children with NF1 or WBS. Moreover, significant declines were found only among males with the FMR1 mutation. Unlike declines in IQ scores, decreases in DQ were not significantly different between males and females. © 2010 Wiley-Liss, Inc.

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