Literature DB >> 30706981

Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Megan E Grove1, Shana White1, Dianna G Fisk1, Shannon Rego2,3, Orit Dagan-Rosenfeld2, Jennefer N Kohler4, Chloe M Reuter4,5, Devon Bonner4, Matthew T Wheeler4,5,6, Jonathan A Bernstein4,7, Kelly E Ormond2, Andrea K Hanson-Kahn2,7.   

Abstract

With the wide adoption of next-generation sequencing (NGS)-based genetic tests, genetic counselors require increased familiarity with NGS technology, variant interpretation concepts, and variant assessment tools. The use of exome and genome sequencing in clinical care has expanded the reach and diversity of genetic testing. Regardless of the setting where genetic counselors are performing variant interpretation or reporting, most of them have learned these skills from colleagues, while on the job. Though traditional, lecture-based learning around these topics is important, there has been growing need for the inclusion of case-based, experiential training of genomics and variant interpretation for genetic counseling students, with the goal of creating a strong foundation in variant interpretation for new genetic counselors, regardless of what area of practice they enter. To address this need, we established a genomics and variant interpretation rotation for Stanford's genetic counseling training program. In response to changes in the genomics landscape, this has now evolved into three unique rotation experiences, each focused on variant interpretation in the context of various genomic settings, including clinical laboratory, research laboratory, and healthy genomic analysis studies. Here, we describe the goals and learning objectives that we have developed for these variant interpretation rotations, and illustrate how these concepts are applied in practice.
© 2019 National Society of Genetic Counselors.

Entities:  

Keywords:  genetic counseling; genetics education; genomics; rotation; variant interpretation

Mesh:

Year:  2019        PMID: 30706981      PMCID: PMC6456376          DOI: 10.1002/jgc4.1094

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


  24 in total

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Authors:  Jessica Profato; Erynn S Gordon; Shannan Dixon; Andrea Kwan
Journal:  J Genet Couns       Date:  2014-01-08       Impact factor: 2.537

Review 2.  Translational utility of next-generation sequencing.

Authors:  Frank S Ong; Jimmy C Lin; Kingshuk Das; Daniel S Grosu; Jian-Bing Fan
Journal:  Genomics       Date:  2013-04-28       Impact factor: 5.736

3.  The Matchmaker Exchange: a platform for rare disease gene discovery.

Authors:  Anthony A Philippakis; Danielle R Azzariti; Sergi Beltran; Anthony J Brookes; Catherine A Brownstein; Michael Brudno; Han G Brunner; Orion J Buske; Knox Carey; Cassie Doll; Sergiu Dumitriu; Stephanie O M Dyke; Johan T den Dunnen; Helen V Firth; Richard A Gibbs; Marta Girdea; Michael Gonzalez; Melissa A Haendel; Ada Hamosh; Ingrid A Holm; Lijia Huang; Matthew E Hurles; Ben Hutton; Joel B Krier; Andriy Misyura; Christopher J Mungall; Justin Paschall; Benedict Paten; Peter N Robinson; François Schiettecatte; Nara L Sobreira; Ganesh J Swaminathan; Peter E Taschner; Sharon F Terry; Nicole L Washington; Stephan Züchner; Kym M Boycott; Heidi L Rehm
Journal:  Hum Mutat       Date:  2015-10       Impact factor: 4.878

4.  Teaching genomic counseling: preparing the genetic counseling workforce for the genomic era.

Authors:  Gillian W Hooker; Kelly E Ormond; Kevin Sweet; Barbara B Biesecker
Journal:  J Genet Couns       Date:  2014-02-08       Impact factor: 2.537

5.  Further Defining the Role of the Laboratory Genetic Counselor.

Authors:  Lindsey Waltman; Cassandra Runke; Jessica Balcom; Jacquelyn D Riley; Margaret Lilley; Susan Christian; Lindsay Zetzsche; McKinsey L Goodenberger
Journal:  J Genet Couns       Date:  2016-02-20       Impact factor: 2.537

6.  Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

Authors:  Andrew R Grant; Brandon J Cushman; Hélène Cavé; Mitchell W Dillon; Bruce D Gelb; Karen W Gripp; Jennifer A Lee; Heather Mason-Suares; Katherine A Rauen; Marco Tartaglia; Lisa M Vincent; Martin Zenker
Journal:  Hum Mutat       Date:  2018-11       Impact factor: 4.878

7.  Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.

Authors:  Marjolijn Renard; Catherine Francis; Rajarshi Ghosh; Alan F Scott; P Dane Witmer; Lesley C Adès; Gregor U Andelfinger; Pauline Arnaud; Catherine Boileau; Bert L Callewaert; Dongchuan Guo; Nadine Hanna; Mark E Lindsay; Hiroko Morisaki; Takayuki Morisaki; Nicholas Pachter; Leema Robert; Lut Van Laer; Harry C Dietz; Bart L Loeys; Dianna M Milewicz; Julie De Backer
Journal:  J Am Coll Cardiol       Date:  2018-08-07       Impact factor: 24.094

8.  ACMG clinical laboratory standards for next-generation sequencing.

Authors:  Heidi L Rehm; Sherri J Bale; Pinar Bayrak-Toydemir; Jonathan S Berg; Kerry K Brown; Joshua L Deignan; Michael J Friez; Birgit H Funke; Madhuri R Hegde; Elaine Lyon
Journal:  Genet Med       Date:  2013-07-25       Impact factor: 8.822

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

10.  The ACMG/AMP reputable source criteria for the interpretation of sequence variants.

Authors:  Leslie G Biesecker; Steven M Harrison
Journal:  Genet Med       Date:  2018-12       Impact factor: 8.822

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  3 in total

1.  Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors.

Authors:  Natalie Deuitch; Sandra Soo-Jin Lee; Danton Char
Journal:  J Genet Couns       Date:  2019-11-07       Impact factor: 2.537

Review 2.  Genomics Education in the Era of Personal Genomics: Academic, Professional, and Public Considerations.

Authors:  Kiara V Whitley; Josie A Tueller; K Scott Weber
Journal:  Int J Mol Sci       Date:  2020-01-24       Impact factor: 5.923

3.  A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.

Authors:  Katie Kerr; Caoimhe McKenna; Shirley Heggarty; Caitlin Bailie; Julie McMullan; Ashleen Crowe; Jill Kilner; Michael Donnelly; Saralynne Boyle; Gillian Rea; Cheryl Flanagan; Shane McKee; Amy Jayne McKnight
Journal:  Genes (Basel)       Date:  2022-06-21       Impact factor: 4.141

  3 in total

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