Literature DB >> 28385198

Precision Cardiovascular Medicine: State of Genetic Testing.

John R Giudicessi1, Iftikhar J Kullo2, Michael J Ackerman3.   

Abstract

In the 15 years following the release of the first complete human genome sequences, our understanding of rare and common genetic variation as determinants of cardiovascular disease susceptibility, prognosis, and therapeutic response has grown exponentially. As such, the use of genomics to enhance the care of patients with cardiovascular diseases has garnered increased attention from clinicians, researchers, and regulatory agencies eager to realize the promise of precision genomic medicine. However, owing to a large burden of "complex" common diseases, emphasis on evidence-based practice, and a degree of unfamiliarity/discomfort with the language of genomic medicine, the development and implementation of genomics-guided approaches designed to further individualize the clinical management of a variety of cardiovascular disorders remains a challenge. In this review, we detail a practical approach to genetic testing initiation and interpretation as well as review the current state of cardiovascular genetic and pharmacogenomic testing in the context of relevant society and regulatory agency recommendations/guidelines.
Copyright © 2017 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

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Year:  2017        PMID: 28385198      PMCID: PMC6364981          DOI: 10.1016/j.mayocp.2017.01.015

Source DB:  PubMed          Journal:  Mayo Clin Proc        ISSN: 0025-6196            Impact factor:   7.616


  136 in total

1.  Initial sequencing and analysis of the human genome.

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Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

2.  Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study.

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Journal:  BMJ       Date:  2000-07-15

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4.  Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Authors:  I Splawski; J Shen; K W Timothy; M H Lehmann; S Priori; J L Robinson; A J Moss; P J Schwartz; J A Towbin; G M Vincent; M T Keating
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5.  Association of polymorphisms in the cytochrome P450 CYP2C9 with warfarin dose requirement and risk of bleeding complications.

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6.  [Tracing of patients with familial hypercholesterolemia in the Netherlands].

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7.  Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

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Journal:  Eur J Hum Genet       Date:  2001-01       Impact factor: 4.246

Review 8.  A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia.

Authors:  Dalya Marks; Margaret Thorogood; H Andrew W Neil; Steve E Humphries
Journal:  Atherosclerosis       Date:  2003-05       Impact factor: 5.162

9.  Beta 1-adrenergic receptor polymorphisms and antihypertensive response to metoprolol.

Authors:  Julie A Johnson; Issam Zineh; Brian J Puckett; Susan P McGorray; Hossein N Yarandi; Daniel F Pauly
Journal:  Clin Pharmacol Ther       Date:  2003-07       Impact factor: 6.875

10.  The sequence of the human genome.

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Journal:  Science       Date:  2001-02-16       Impact factor: 47.728

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  20 in total

1.  Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.

Authors:  Conor M Lane; John R Giudicessi; Dan Ye; David J Tester; Ram K Rohatgi; J Martijn Bos; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2018-04-03       Impact factor: 6.343

2.  Clinical Pharmacogenomics: Applications in Nephrology.

Authors:  Solomon M Adams; Karryn R Crisamore; Philip E Empey
Journal:  Clin J Am Soc Nephrol       Date:  2018-05-23       Impact factor: 8.237

3.  The Cardiac Gap Junction has Discrete Functions in Electrotonic and Ephaptic Coupling.

Authors:  Robert G Gourdie
Journal:  Anat Rec (Hoboken)       Date:  2018-12-18       Impact factor: 2.064

4.  The pharmacoepigenomics informatics pipeline defines a pathway of novel and known warfarin pharmacogenomics variants.

Authors:  Ari Allyn-Feuer; Alex Ade; Jasmine A Luzum; Gerald A Higgins; Brian D Athey
Journal:  Pharmacogenomics       Date:  2018-02-05       Impact factor: 2.533

Review 5.  Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Authors:  John R Giudicessi; Dan M Roden; Arthur A M Wilde; Michael J Ackerman
Journal:  Circulation       Date:  2018-02-06       Impact factor: 29.690

Review 6.  Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies.

Authors:  Han-Chih Hencher Lee; Chor-Kwan Ching
Journal:  Clin Biochem Rev       Date:  2019-11

Review 7.  Cardiovascular safety of prokinetic agents: A focus on drug-induced arrhythmias.

Authors:  J R Giudicessi; M J Ackerman; M Camilleri
Journal:  Neurogastroenterol Motil       Date:  2018-02-14       Impact factor: 3.598

8.  Physiological Functions, Biophysical Properties, and Regulation of KCNQ1 (KV7.1) Potassium Channels.

Authors:  Michael C Sanguinetti; Guiscard Seebohm
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

9.  Symptom-based patient stratification in mental illness using clinical notes.

Authors:  Qi Liu; Myung Woo; Xue Zou; Avee Champaneria; Cecilia Lau; Mohammad Imtiaz Mubbashar; Charlotte Schwarz; Jane P Gagliardi; Jessica D Tenenbaum
Journal:  J Biomed Inform       Date:  2019-09-06       Impact factor: 6.317

Review 10.  Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.

Authors:  Zoltán Szabolcs; Kálmán Benke; Roland Stengl; Bence Ágg; Miklós Pólos; Gábor Mátyás; Gábor Szabó; Béla Merkely; Tamás Radovits
Journal:  Orphanet J Rare Dis       Date:  2021-05-31       Impact factor: 4.123

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