Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association

Mital, Seema; Musunuru, Kiran; Garg, Vidu; Russell, Mark W.; Lanfear, David E.; Gupta, Rajat; Hickey, Kathleen T.; Ackerman, Michael J.; Pérez, Marco; Roden, Dan M.; Woo, Daniel; Fox, Caroline S.; Ware, Stephanie M.

doi:10.1161/hcg.0000000000000031

Cited by 66 publications

(45 citation statements)

References 122 publications

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“…Increasing the genetic literacy among cardiovascular genetic care providers is necessary to improve the provision of care to this patient population. (31)…”

Section: Genetic Testing and Variant Interpretationmentioning

confidence: 99%

Genetics of paediatric cardiomyopathies

Ware

2017

Current Opinion in Pediatrics

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Purpose of review Pediatric cardiomyopathy is a rare disease with a genetic basis. The purpose of this review is to discuss the current status of genetic findings in the pediatric cardiomyopathy population and present recent progress in utilizing this information for management and therapy. Recent findings With increased clinical genetic testing, an understanding of the genetic causes of cardiomyopathy is improving and novel causes are identified. Recent progress in identifying the scope of genetic variation in large population datasets has led to reassessment and refinement of our understanding of the significance of rare genetic variation. As a result, the stringency of variant interpretation has increased, at times leading to revision of previous mutation results. Transcriptome and epigenome studies are elucidating important pathways for disease progression and highlight similarities and differences from adult cardiomyopathy. Therapy targeted toward the underlying cause of cardiomyopathy is emerging for a number of rare syndromes such as Pompe and Noonan syndromes, and genome editing and induced pluripotent stem cells provide promise for additional precision medicine approaches. Summary Genetics is moving at a rapid pace in pediatric cardiomyopathy. Genetic testing is increasingly being incorporated into clinical care. While challenges in interpretation of rare genetic variation remains challenging, the opportunity to provide management and therapy targeted toward the underlying genetic cause is beginning to be realized.

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“…Increasing the genetic literacy among cardiovascular genetic care providers is necessary to improve the provision of care to this patient population. (31)…”

Section: Genetic Testing and Variant Interpretationmentioning

confidence: 99%

Genetics of paediatric cardiomyopathies

Ware

2017

Current Opinion in Pediatrics

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“…Although the value of PGT may be evident in targeted clinical trial populations, patient‐specific characteristics may limit translation of that value to the general population . Ideally, individualised clinical management would consider both PGT and patient‐specific characteristics . Given the limits of claims data, this study could not assess the extent to which patient‐specific factors, such as age, disease severity and comorbidities, other clinical laboratory results, etc., were incorporated into clinician decision‐making regarding PGT or interpretation of results.…”

Section: Discussionmentioning

confidence: 99%

The impact of real-world cardiovascular-related pharmacogenetic testing in an insured population

et al. 2018

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“…Education in the era of precision medicine will need to use an integrated systems approach in which the patient, disease, treatment, and the environment are seen as a dynamic milieu of drivers that interact and promote deviation from ideal health and recovery from disease 133 . Healthcare providers will need to enhance their literacy and competency in major fields such as cardiovascular genetics 134 .…”

Section: Precision Participant Descriptormentioning

confidence: 99%

Precision medicine in cardiology

2016

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The cardiovascular research and clinical communities are ideally positioned to address the epidemic of noncommunicable causes of death, as well as advance our understanding of human health and disease, through the development and implementation of precision medicine. New tools will be needed for describing the cardiovascular health status of individuals and populations, including 'omic' data, exposome and social determinants of health, the microbiome, behaviours and motivations, patient-generated data, and the array of data in electronic medical records. Cardiovascular specialists can build on their experience and use precision medicine to facilitate discovery science and improve the efficiency of clinical research, with the goal of providing more precise information to improve the health of individuals and populations. Overcoming the barriers to implementing precision medicine will require addressing a range of technical and sociopolitical issues. Health care under precision medicine will become a more integrated, dynamic system, in which patients are no longer a passive entity on whom measurements are made, but instead are central stakeholders who contribute data and participate actively in shared decision-making. Many traditionally defined diseases have common mechanisms; therefore, elimination of a siloed approach to medicine will ultimately pave the path to the creation of a universal precision medicine environment.

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Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association

Cited by 66 publications

References 122 publications

Genetics of paediatric cardiomyopathies

Genetics of paediatric cardiomyopathies

The impact of real-world cardiovascular-related pharmacogenetic testing in an insured population

Precision medicine in cardiology

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