Literature DB >> 29079892

The Genetic Counselor in the Pediatric Arrhythmia Clinic: Review and Assessment of Services.

Benjamin M Helm1, Samantha L Freeze2, Katherine G Spoonamore2, Stephanie M Ware2, Mark D Ayers2, Adam C Kean3.   

Abstract

There are minimal data on the impact of genetic counselors in subspecialty clinics, including the pediatric arrhythmia clinic. This study aimed to describe the clinical encounters of a genetic counselor integrated into a pediatric arrhythmia clinic. In the 20 months between July 2015 and February 2017, a total of 1914 scheduled patients were screened for indications relevant for assessment by a genetic counselor. Of these, the genetic counselor completed 276 patient encounters, seeing 14.4% of all patients in clinic. The most expected and common indications for genetic counselor involvement were related to suspicion for primary heritable arrhythmia conditions, though patients seen in this clinic display a wide range of cardiac problems and many additional indications for genetic evaluation were identified. Roughly 75% (211/276) of encounters were for personal history of confirmed/suspected heritable disease, including cardiac channelopathies, cardiomyopathies, ventricular arrhythmias, and congenital heart defects, and 25% (65/276) were for family history of disease, including long QT syndrome and sudden unexplained death. Overall, this study shows that about 1 in 7 patients seen in a pediatric arrhythmia clinic have indications that likely benefit from genetic counselor involvement and care. Similar service delivery models embedding genetic counselors in pediatric arrhythmia clinics should be encouraged, and this model could be emulated to increase patient access to genetic counseling services.

Entities:  

Keywords:  Cardiomyopathy; Channelopathy; Electrophysiology; Heritable heart disease; Inherited arrhythmias; Sudden death

Mesh:

Year:  2017        PMID: 29079892     DOI: 10.1007/s10897-017-0169-5

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


  13 in total

1.  2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine.

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Journal:  Circulation       Date:  2010-03-16       Impact factor: 29.690

Review 2.  HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.

Authors:  Silvia G Priori; Arthur A Wilde; Minoru Horie; Yongkeun Cho; Elijah R Behr; Charles Berul; Nico Blom; Josep Brugada; Chern-En Chiang; Heikki Huikuri; Prince Kannankeril; Andrew Krahn; Antoine Leenhardt; Arthur Moss; Peter J Schwartz; Wataru Shimizu; Gordon Tomaselli; Cynthia Tracy
Journal:  Heart Rhythm       Date:  2013-08-30       Impact factor: 6.343

3.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

Authors:  Michael J Ackerman; Silvia G Priori; Stephan Willems; Charles Berul; Ramon Brugada; Hugh Calkins; A John Camm; Patrick T Ellinor; Michael Gollob; Robert Hamilton; Ray E Hershberger; Daniel P Judge; Hervè Le Marec; William J McKenna; Eric Schulze-Bahr; Chris Semsarian; Jeffrey A Towbin; Hugh Watkins; Arthur Wilde; Christian Wolpert; Douglas P Zipes
Journal:  Europace       Date:  2011-08       Impact factor: 5.214

Review 4.  Genetic testing in cardiovascular medicine: current landscape and future horizons.

Authors:  Amy C Sturm; Ray E Hershberger
Journal:  Curr Opin Cardiol       Date:  2013-05       Impact factor: 2.161

5.  Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?

Authors:  Wilhelmina S Kerstjens-Frederikse; Gideon J Du Marchie Sarvaas; Jolien S Ruiter; Peter C Van Den Akker; Arno M Temmerman; Joost P Van Melle; Robert M W Hofstra; Rolf M F Berger
Journal:  Heart       Date:  2011-02-22       Impact factor: 5.994

6.  Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy.

Authors:  Chad R Frasier; Jacy L Wagnon; Yangyang Oliver Bao; Luke G McVeigh; Luis F Lopez-Santiago; Miriam H Meisler; Lori L Isom
Journal:  Proc Natl Acad Sci U S A       Date:  2016-10-26       Impact factor: 11.205

7.  Provision of cardiovascular genetic counseling services: current practice and future directions.

Authors:  Allyson E Somers; Stephanie M Ware; Kathleen Collins; John L Jefferies; Hua He; Erin M Miller
Journal:  J Genet Couns       Date:  2014-05-01       Impact factor: 2.537

8.  Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

Authors:  Kim L McBride; Ricardo Pignatelli; Mark Lewin; Trang Ho; Susan Fernbach; Andres Menesses; Wilbur Lam; Suzanne M Leal; Norman Kaplan; Paul Schliekelman; Jeffrey A Towbin; John W Belmont
Journal:  Am J Med Genet A       Date:  2005-04-15       Impact factor: 2.802

9.  Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline.

Authors:  Ray E Hershberger; Joann Lindenfeld; Luisa Mestroni; Christine E Seidman; Matthew R G Taylor; Jeffrey A Towbin
Journal:  J Card Fail       Date:  2009-03       Impact factor: 5.712

10.  Genetic screening in sudden cardiac death in the young can save future lives.

Authors:  Eva-Lena Stattin; Ida Maria Westin; Kristina Cederquist; Jenni Jonasson; Björn-Anders Jonsson; Stellan Mörner; Anna Norberg; Peter Krantz; Aase Wisten
Journal:  Int J Legal Med       Date:  2015-07-31       Impact factor: 2.686

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  7 in total

1.  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

Review 2.  The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review.

Authors:  Nick Dragojlovic; Kennedy Borle; Nicola Kopac; Ursula Ellis; Patricia Birch; Shelin Adam; Jan M Friedman; Amy Nisselle; Alison M Elliott; Larry D Lynd
Journal:  Genet Med       Date:  2020-06-24       Impact factor: 8.822

3.  Changes in genetic variant results over time in pediatric cardiomyopathy and electrophysiology.

Authors:  Sara Cherny; Rachael Olson; Kathryn Chiodo; Lauren C Balmert; Gregory Webster
Journal:  J Genet Couns       Date:  2020-07-24       Impact factor: 2.537

Review 4.  Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.

Authors:  Julie A McGlynn; Elinor Langfelder-Schwind
Journal:  Cold Spring Harb Perspect Med       Date:  2020-10-01       Impact factor: 5.159

5.  The stepwise process of integrating a genetic counsellor into primary care.

Authors:  Caitlin Slomp; Emily Morris; Morgan Price; Alison M Elliott; Jehannine Austin
Journal:  Eur J Hum Genet       Date:  2022-01-31       Impact factor: 5.351

6.  Clinical and genetic spectrum of neonatal arrhythmia in a NICU.

Authors:  Yi Dai; Rong Yin; Lin Yang; Zhi-Hua Li
Journal:  Transl Pediatr       Date:  2021-10

7.  Support, information, and integration of genetics for children with congenital lower limb deficiencies in British Columbia, Canada.

Authors:  Teresa Campbell; Ching-Yi Jenny Chen; Harpreet Chhina; Rajpreet Chahal; Anthony Cooper; Alison M Elliott
Journal:  Paediatr Child Health       Date:  2019-02-12       Impact factor: 2.253

  7 in total

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