Literature DB >> 29234989

Clinical Cardiovascular Genetic Counselors Take a Leading Role in Team-based Variant Classification.

Chloe Reuter1, Megan E Grove2,3, Kate Orland4, Katherine Spoonamore5, Colleen Caleshu6,7.   

Abstract

We sought to delineate the genetic test review and interpretation practices of clinical cardiovascular genetic counselors. A one-time anonymous online survey was taken by 46 clinical cardiovascular genetic counselors recruited through the National Society of Genetic Counselors Cardiovascular Special Interest Group. Nearly all (95.7%) gather additional information on variants reported on clinical genetic test reports and most (81.4%) assess the classification of such variants. Clinical cardiovascular genetic counselors typically (81.0%) classify variants in collaboration with cardiologist and/or geneticist colleagues, with the genetic counselor as the team member who is primarily responsible. Variant classification is a relatively recent (mean 3.2 years) addition to practice. Most genetic counselors learned classification skills on the job from clinical and laboratory colleagues. Recent graduates were more likely to have learned this in graduate school (p < 0.001). Genetic counselors are motivated to take responsibility for the classification of variants because of prior experiences with variant reclassification, inconsistencies between laboratories, and incomplete laboratory reports. They are also driven by a sense of professional duty and their proximity to the clinical context. This practice represents a broadening of the skill set of clinical cardiovascular genetic counselors and a unique expertise that they contribute to the interdisciplinary teams in which they work.

Keywords:  Cardiovascular; Genetic counseling; Genetic counselor; Genetic testing; Interpretation; Variant classification

Mesh:

Year:  2017        PMID: 29234989     DOI: 10.1007/s10897-017-0175-7

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


  31 in total

1.  Assessing the integration of genomic medicine in genetic counseling training programs.

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

Review 2.  Conveying a probabilistic genetic test result to families with an inherited heart disease.

Authors:  Jodie Ingles; Christopher Semsarian
Journal:  Heart Rhythm       Date:  2014-03-13       Impact factor: 6.343

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.  Identification of Misclassified ClinVar Variants via Disease Population Prevalence.

Authors:  Naisha Shah; Ying-Chen Claire Hou; Hung-Chun Yu; Rachana Sainger; C Thomas Caskey; J Craig Venter; Amalio Telenti
Journal:  Am J Hum Genet       Date:  2018-04-05       Impact factor: 11.025

5.  A new era in the interpretation of human genomic variation.

Authors:  Heidi L Rehm
Journal:  Genet Med       Date:  2017-07-13       Impact factor: 8.822

6.  Comparison of U.S. and Italian experiences with sudden cardiac deaths in young competitive athletes and implications for preparticipation screening strategies.

Authors:  Barry J Maron; Tammy S Haas; Joseph J Doerer; Paul D Thompson; James S Hodges
Journal:  Am J Cardiol       Date:  2009-05-18       Impact factor: 2.778

7.  An interdisciplinary approach to personalized medicine: case studies from a cardiogenetics clinic.

Authors:  Kathleen E Erskine; Eleanor Griffith; Nicole Degroat; Marina Stolerman; Louise B Silverstein; Nadia Hidayatallah; David Wasserman; Esma Paljevic; Lilian Cohen; Christine A Walsh; Thomas McDonald; Robert W Marion; Siobhan M Dolan
Journal:  Per Med       Date:  2013-01-01       Impact factor: 2.512

Review 8.  Interdisciplinary psychosocial care for families with inherited cardiovascular diseases.

Authors:  Colleen Caleshu; Nadine A Kasparian; Katharine S Edwards; Laura Yeates; Christopher Semsarian; Marco Perez; Euan Ashley; Christian J Turner; Joshua W Knowles; Jodie Ingles
Journal:  Trends Cardiovasc Med       Date:  2016-04-28       Impact factor: 6.677

9.  Assigning a causal role to genetic variants in hypertrophic cardiomyopathy.

Authors:  Hugh Watkins
Journal:  Circ Cardiovasc Genet       Date:  2013-02

10.  Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

Authors:  Jipin Das K; Jodie Ingles; Richard D Bagnall; Christopher Semsarian
Journal:  Genet Med       Date:  2013-10-10       Impact factor: 8.822

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  15 in total

1.  Variants of Uncertain Significance: Should We Revisit How They Are Evaluated and Disclosed?

Authors:  Ana Morales; Ray E Hershberger
Journal:  Circ Genom Precis Med       Date:  2018-06

Review 2.  Opportunities, resources, and techniques for implementing genomics in clinical care.

Authors:  Teri A Manolio; Robb Rowley; Marc S Williams; Dan Roden; Geoffrey S Ginsburg; Carol Bult; Rex L Chisholm; Patricia A Deverka; Howard L McLeod; George A Mensah; Mary V Relling; Laura Lyman Rodriguez; Cecelia Tamburro; Eric D Green
Journal:  Lancet       Date:  2019-08-05       Impact factor: 79.321

3.  All Along the Watchtower: a Case of Long QT Syndrome Misdiagnosis Secondary to Genetic Testing Misinterpretation.

Authors:  Benjamin M Helm; Mark D Ayers; Adam C Kean
Journal:  J Genet Couns       Date:  2018-08-16       Impact factor: 2.537

4.  Perceptions of genetic variant reclassification in patients with inherited cardiac disease.

Authors:  Eugene K Wong; Kirsten Bartels; Julie Hathaway; Charlotte Burns; Laura Yeates; Christopher Semsarian; Andrew D Krahn; Alice Virani; Jodie Ingles
Journal:  Eur J Hum Genet       Date:  2019-03-21       Impact factor: 4.246

Review 5.  Cardiovascular Genetics: The Role of Genetics in Predicting Risk.

Authors:  Jessica Chowns; Lily Hoffman-Andrews; Amy Marzolf; Nosheen Reza; Anjali Tiku Owens
Journal:  Med Clin North Am       Date:  2022-02-02       Impact factor: 5.456

6.  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

7.  2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Authors:  Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal:  Heart Rhythm       Date:  2020-10-19       Impact factor: 6.343

Review 8.  Clinical and genetic evaluation after sudden cardiac arrest.

Authors:  Stephanie L Harris; Steven A Lubitz
Journal:  J Cardiovasc Electrophysiol       Date:  2020-01-15

9.  2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.

Authors:  Martin K Stiles; Arthur A M Wilde; Dominic J Abrams; Michael J Ackerman; Christine M Albert; Elijah R Behr; Sumeet S Chugh; Martina C Cornel; Karen Gardner; Jodie Ingles; Cynthia A James; Jyh-Ming Jimmy Juang; Stefan Kääb; Elizabeth S Kaufman; Andrew D Krahn; Steven A Lubitz; Heather MacLeod; Carlos A Morillo; Koonlawee Nademanee; Vincent Probst; Elizabeth V Saarel; Luciana Sacilotto; Christopher Semsarian; Mary N Sheppard; Wataru Shimizu; Jonathan R Skinner; Jacob Tfelt-Hansen; Dao Wu Wang
Journal:  J Arrhythm       Date:  2021-04-08

10.  Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience.

Authors:  Austin Bland; Elizabeth A Harrington; Kyla Dunn; Mitchel Pariani; Julia C K Platt; Megan E Grove; Colleen Caleshu
Journal:  Genet Med       Date:  2017-12-14       Impact factor: 8.822

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