Literature DB >> 26242468

Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing.

Julia Wynn1.   

Abstract

Whole exome sequencing (WES) is increasingly used in research and clinical genetics as the cost of sequencing decreases and the interpretation improves. Genetic counselors need to be prepared to counsel a diverse patient population for this complex test. This commentary is a reflection of one genetic counselor's experiences in counseling, consenting, and returning results for clinical and research WES for over 120 participants and patients. She reflects on how she overcame the initial challenges and concerns of counseling for WES and how her counseling evolved from a teaching based counseling model to an interactive patient-center counseling model. Her insights are offered to prepare other genetic counselors for the growing use of genomic testing.

Entities:  

Keywords:  Consenting; Genetic counseling; Genomic testing; Research; Whole exome sequencing

Mesh:

Year:  2015        PMID: 26242468      PMCID: PMC4744148          DOI: 10.1007/s10897-015-9868-y

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


  30 in total

Review 1.  What can exome sequencing do for you?

Authors:  Jacek Majewski; Jeremy Schwartzentruber; Emilie Lalonde; Alexandre Montpetit; Nada Jabado
Journal:  J Med Genet       Date:  2011-07-05       Impact factor: 6.318

2.  Whole genome sequencing: a considered approach to clinical implementation.

Authors:  David Dimmock
Journal:  Curr Protoc Hum Genet       Date:  2013

3.  Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine.

Authors:  Jehannine Austin; Alicia Semaka; George Hadjipavlou
Journal:  J Genet Couns       Date:  2014-05-21       Impact factor: 2.537

4.  Association of Researcher Characteristics with Views on Return of Incidental Findings from Genomic Research.

Authors:  Julia Wynn; Josue Martinez; Jimmy Duong; Yuan Zhang; Jo Phelan; Abby Fyer; Robert Klitzman; Paul S Appelbaum; Wendy K Chung
Journal:  J Genet Couns       Date:  2015-01-17       Impact factor: 2.537

5.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

6.  "Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.

Authors:  Ashley N Tomlinson; Debra Skinner; Denise L Perry; Sarah R Scollon; Myra I Roche; Barbara A Bernhardt
Journal:  J Genet Couns       Date:  2015-04-26       Impact factor: 2.537

7.  Point-counterpoint. Ethics and genomic incidental findings.

Authors:  Amy L McGuire; Steven Joffe; Barbara A Koenig; Barbara B Biesecker; Laurence B McCullough; Jennifer S Blumenthal-Barby; Timothy Caulfield; Sharon F Terry; Robert C Green
Journal:  Science       Date:  2013-05-16       Impact factor: 47.728

8.  Exploring concordance and discordance for return of incidental findings from clinical sequencing.

Authors:  Robert C Green; Jonathan S Berg; Gerard T Berry; Leslie G Biesecker; David P Dimmock; James P Evans; Wayne W Grody; Madhuri R Hegde; Sarah Kalia; Bruce R Korf; Ian Krantz; Amy L McGuire; David T Miller; Michael F Murray; Robert L Nussbaum; Sharon E Plon; Heidi L Rehm; Howard J Jacob
Journal:  Genet Med       Date:  2012-03-15       Impact factor: 8.822

9.  Incidental findings in clinical genomics: a clarification.

Authors: 
Journal:  Genet Med       Date:  2013-07-04       Impact factor: 8.822

10.  The usefulness of whole-exome sequencing in routine clinical practice.

Authors:  Alejandro Iglesias; Kwame Anyane-Yeboa; Julia Wynn; Ashley Wilson; Megan Truitt Cho; Edwin Guzman; Rebecca Sisson; Claire Egan; Wendy K Chung
Journal:  Genet Med       Date:  2014-06-05       Impact factor: 8.822

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  7 in total

1.  Time Flies: an Examination of Genetic Counselor Professional Development: Introduction to Special Issue on Genetic Counselor Development.

Authors:  Nancy Callanan; Krista Redlingler- Grosse
Journal:  J Genet Couns       Date:  2016-06-02       Impact factor: 2.537

2.  Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.

Authors:  Tara Schmidlen; Amy C Sturm; Shelly Hovick; Laura Scheinfeldt; J Scott Roberts; Lindsey Morr; Joseph McElroy; Amanda E Toland; Michael Christman; Julianne M O'Daniel; Erynn S Gordon; Barbara A Bernhardt; Kelly E Ormond; Kevin Sweet
Journal:  J Genet Couns       Date:  2018-02-19       Impact factor: 2.537

3.  Genetic Counseling in the Era of Genomics: What's all the Fuss about?

Authors:  Gemma R Brett; Ella J Wilkins; Emma T Creed; Kirsty West; Anna Jarmolowicz; Giulia M Valente; Yael Prawer; Elly Lynch; Ivan Macciocca
Journal:  J Genet Couns       Date:  2018-01-24       Impact factor: 2.537

4.  Consent for clinical genome sequencing: considerations from the Clinical Sequencing Exploratory Research Consortium.

Authors:  Joon-Ho Yu; Paul S Appelbaum; Kyle B Brothers; Steven Joffe; Tia L Kauffman; Barbara A Koenig; Anya Er Prince; Sarah Scollon; Susan M Wolf; Barbara A Bernhardt; Benjamin S Wilfond
Journal:  Per Med       Date:  2019-07-17       Impact factor: 2.512

5.  DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

Authors:  Patricia Birch; S Adam; N Bansback; R R Coe; J Hicklin; A Lehman; K C Li; J M Friedman
Journal:  J Genet Couns       Date:  2016-05-23       Impact factor: 2.537

6.  Known unknowns: building an ethics of uncertainty into genomic medicine.

Authors:  Ainsley J Newson; Samantha J Leonard; Alison Hall; Clara L Gaff
Journal:  BMC Med Genomics       Date:  2016-09-01       Impact factor: 3.063

7.  A Key Role for the Genetic Counsellor in the Genomics Era.

Authors:  Flora M Joseph
Journal:  F1000Res       Date:  2018-04-03
  7 in total

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