Literature DB >> 29525931

A Commentary on Opportunities for the Genetic Counseling Profession through Genomic Variant Interpretation: Reflections from an Ex-Lab Rat.

Karen Wain1.   

Abstract

The genetic counseling profession continues to expand and respond to the changing landscape of genomic medicine. "Non-traditional" genetic counseling roles have become more commonplace and the transferability of the genetic counselor skill set has been widely acknowledged, particularly in genetic laboratory settings. As these expanding roles continue to mature, all genetic counselors can benefit by learning and adopting clinically relevant skills, such as genomic variant interpretation, which can be applied to direct patient care. These skills can enrich our patients' understanding of their test results, help ensure quality patient care, and could be useful in positioning genetic counselors as critical members in the medical team as we continue to fully transition into the genomic medicine era.

Entities:  

Keywords:  Clinical genetic counseling skills; Laboratory genetic counseling skills; Variant evaluation; Variant interpretation

Mesh:

Year:  2018        PMID: 29525931      PMCID: PMC6039229          DOI: 10.1007/s10897-018-0247-3

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


  15 in total

1.  Defining the role of laboratory genetic counselor.

Authors:  Susan Christian; Margaret Lilley; Stacey Hume; Patrick Scott; Martin Somerville
Journal:  J Genet Couns       Date:  2011-11-11       Impact factor: 2.537

2.  Presented Abstracts from the Thirty Fifth Annual Education Conference of the National Society of Genetic Counselors (Seattle, WA, September 2016).

Authors: 
Journal:  J Genet Couns       Date:  2016-12       Impact factor: 2.537

3.  Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Authors:  Laura M Amendola; Gail P Jarvik; Michael C Leo; Heather M McLaughlin; Yassmine Akkari; Michelle D Amaral; Jonathan S Berg; Sawona Biswas; Kevin M Bowling; Laura K Conlin; Greg M Cooper; Michael O Dorschner; Matthew C Dulik; Arezou A Ghazani; Rajarshi Ghosh; Robert C Green; Ragan Hart; Carrie Horton; Jennifer J Johnston; Matthew S Lebo; Aleksandar Milosavljevic; Jeffrey Ou; Christine M Pak; Ronak Y Patel; Sumit Punj; Carolyn Sue Richards; Joseph Salama; Natasha T Strande; Yaping Yang; Sharon E Plon; Leslie G Biesecker; Heidi L Rehm
Journal:  Am J Hum Genet       Date:  2016-05-12       Impact factor: 11.025

4.  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

5.  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

6.  Experiences with obtaining informed consent for genomic sequencing.

Authors:  Barbara A Bernhardt; Myra I Roche; Denise L Perry; Sarah R Scollon; Ashley N Tomlinson; Debra Skinner
Journal:  Am J Med Genet A       Date:  2015-07-21       Impact factor: 2.802

7.  Traditional roles in a non-traditional setting: genetic counseling in precision oncology.

Authors:  Jessica N Everett; Shanna L Gustafson; Victoria M Raymond
Journal:  J Genet Couns       Date:  2014-03-01       Impact factor: 2.537

8.  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

9.  A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study.

Authors:  Courtney L Scherr; Noralane M Lindor; Teri L Malo; Fergus J Couch; Susan T Vadaparampil
Journal:  Genet Med       Date:  2015-01-08       Impact factor: 8.822

10.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

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  3 in total

1.  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

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

Authors:  Megan E Grove; Shana White; Dianna G Fisk; Shannon Rego; Orit Dagan-Rosenfeld; Jennefer N Kohler; Chloe M Reuter; Devon Bonner; Matthew T Wheeler; Jonathan A Bernstein; Kelly E Ormond; Andrea K Hanson-Kahn
Journal:  J Genet Couns       Date:  2019-02-01       Impact factor: 2.537

Review 3.  Evolving Roles of Genetic Counselors in the Clinical Laboratory.

Authors:  Megan T Cho; Carrie Guy
Journal:  Cold Spring Harb Perspect Med       Date:  2020-10-01       Impact factor: 5.159

  3 in total

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