Literature DB >> 22610653

The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing.

Karen E Wain1, Erin Riggs, Karen Hanson, Melissa Savage, Darlene Riethmaier, Andrea Muirhead, Elyse Mitchell, Bethanny Smith Packard, W Andrew Faucett.   

Abstract

The International Standards for Cytogenomic Arrays (ISCA) Consortium is a worldwide collaborative effort dedicated to optimizing patient care by improving the quality of chromosomal microarray testing. The primary effort of the ISCA Consortium has been the development of a database of copy number variants (CNVs) identified during the course of clinical microarray testing. This database is a powerful resource for clinicians, laboratories, and researchers, and can be utilized for a variety of applications, such as facilitating standardized interpretations of certain CNVs across laboratories or providing phenotypic information for counseling purposes when published data is sparse. A recognized limitation to the clinical utility of this database, however, is the quality of clinical information available for each patient. Clinical genetic counselors are uniquely suited to facilitate the communication of this information to the laboratory by virtue of their existing clinical responsibilities, case management skills, and appreciation of the evolving nature of scientific knowledge. We intend to highlight the critical role that genetic counselors play in ensuring optimal patient care through contributing to the clinical utility of the ISCA Consortium's database, as well as the quality of individual patient microarray reports provided by contributing laboratories. Current tools, paper and electronic forms, created to maximize this collaboration are shared. In addition to making a professional commitment to providing complete clinical information, genetic counselors are invited to become ISCA members and to become involved in the discussions and initiatives within the Consortium.

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Year:  2012        PMID: 22610653      PMCID: PMC3564520          DOI: 10.1007/s10897-012-9507-9

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  32 in total

1.  Association of genes to genetically inherited diseases using data mining.

Authors:  Carolina Perez-Iratxeta; Peer Bork; Miguel A Andrade
Journal:  Nat Genet       Date:  2002-05-13       Impact factor: 38.330

2.  Phenotypic information in genomic variant databases enhances clinical care and research: the International Standards for Cytogenomic Arrays Consortium experience.

Authors:  Erin Rooney Riggs; Laird Jackson; David T Miller; Steven Van Vooren
Journal:  Hum Mutat       Date:  2012-03-20       Impact factor: 4.878

Review 3.  Clinical utility of contemporary molecular cytogenetics.

Authors:  Bassem A Bejjani; Lisa G Shaffer
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

4.  Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.

Authors:  L Y Hsu; M T Yu; R L Neu; D L Van Dyke; P A Benn; C L Bradshaw; L G Shaffer; R R Higgins; G S Khodr; C C Morton; H Wang; A R Brothman; D Chadwick; C M Disteche; L S Jenkins; D K Kalousek; T J Pantzar; P Wyatt
Journal:  Prenat Diagn       Date:  1997-03       Impact factor: 3.050

5.  A comprehensive analysis of common copy-number variations in the human genome.

Authors:  Kendy K Wong; Ronald J deLeeuw; Nirpjit S Dosanjh; Lindsey R Kimm; Ze Cheng; Douglas E Horsman; Calum MacAulay; Raymond T Ng; Carolyn J Brown; Evan E Eichler; Wan L Lam
Journal:  Am J Hum Genet       Date:  2006-12-05       Impact factor: 11.025

Review 6.  Novel microdeletion syndromes detected by chromosome microarrays.

Authors:  Anne M Slavotinek
Journal:  Hum Genet       Date:  2008-05-30       Impact factor: 4.132

7.  Integration of curated databases to identify genotype-phenotype associations.

Authors:  Chern-Sing Goh; Tara A Gianoulis; Yang Liu; Jianrong Li; Alberto Paccanaro; Yves A Lussier; Mark Gerstein
Journal:  BMC Genomics       Date:  2006-10-12       Impact factor: 3.969

8.  Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.

Authors:  S Das; Sherri J Bale; David H Ledbetter
Journal:  Genet Med       Date:  2008-05       Impact factor: 8.822

9.  A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.

Authors:  William Andrew Faucett; Suzanne Hart; Roberta A Pagon; Lisa Forman Neall; Giovanna Spinella
Journal:  Genet Med       Date:  2008-05       Impact factor: 8.822

10.  Mining phenotypes for gene function prediction.

Authors:  Philip Groth; Bertram Weiss; Hans-Dieter Pohlenz; Ulf Leser
Journal:  BMC Bioinformatics       Date:  2008-03-03       Impact factor: 3.169

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  9 in total

1.  Looking back and moving forward: an historical perspective from laboratory genetic counselors.

Authors:  Lindsay H Zetzsche; Katrina E Kotzer; Karen E Wain
Journal:  J Genet Couns       Date:  2013-11-12       Impact factor: 2.537

2.  GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.

Authors:  Brianne E Kirkpatrick; Erin Rooney Riggs; Danielle R Azzariti; Vanessa Rangel Miller; David H Ledbetter; David T Miller; Heidi Rehm; Christa Lese Martin; W Andrew Faucett
Journal:  Hum Mutat       Date:  2015-08-06       Impact factor: 4.878

Review 3.  Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.

Authors:  Jill A Rosenfeld; Ankita Patel
Journal:  J Pediatr Genet       Date:  2016-05-30

Review 4.  The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting.

Authors:  Jessica R Balcom; Katrina E Kotzer; Lindsey A Waltman; Jennifer L Kemppainen; Brittany C Thomas
Journal:  J Genet Couns       Date:  2016-04-22       Impact factor: 2.537

5.  The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.

Authors:  Karen E Wain; Emily Palen; Juliann M Savatt; Devin Shuman; Brenda Finucane; Andrea Seeley; Thomas D Challman; Scott M Myers; Christa Lese Martin
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

6.  The utilization of counseling skills by the laboratory genetic counselor.

Authors:  McKinsey L Goodenberger; Brittany C Thomas; Karen E Wain
Journal:  J Genet Couns       Date:  2014-08-20       Impact factor: 2.537

7.  Expansion of genetic services utilizing a general genetic counseling clinic.

Authors:  V L Hannig; M P Cohen; J P Pfotenhauer; M D Williams; T M Morgan; J A Phillips
Journal:  J Genet Couns       Date:  2013-05-31       Impact factor: 2.537

8.  A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.

Authors:  Marian Reiff; Rebecca Mueller; Surabhi Mulchandani; Nancy B Spinner; Reed E Pyeritz; Barbara A Bernhardt
Journal:  J Genet Couns       Date:  2013-09-14       Impact factor: 2.537

9.  Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

Authors:  Robert J Sicko; Marilyn L Browne; Shannon L Rigler; Charlotte M Druschel; Gang Liu; Ruzong Fan; Paul A Romitti; Michele Caggana; Denise M Kay; Lawrence C Brody; James L Mills
Journal:  PLoS One       Date:  2016-10-27       Impact factor: 3.240

  9 in total

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