https://www.cardioatrio.com/index.php/guias-de-practica-clinica/category/7-aha-acc?download=92:genetic-evaluation-of-cardiomyopathyda-heart-failure-society-of-america-practice-guideline

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline

Advances in molecular genetics present new opportunities and challenges for cardiologists who manage patients and families with cardiomyopathies. The aims of this position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases are to review the general issues related to genetic counselling, family screening and genetic testing in families with a cardiomyopathy, and to provide key messages and suggestions for clinicians involved in their management.

Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases

This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of congenital heart disease was published, new genomic techniques have become widely available that have dramatically changed our understanding of the causes of congenital heart disease and, clinically, have allowed more accurate definition of the pathogeneses of congenital heart disease in patients of all ages and even prenatally. Information is presented on new molecular testing techniques and their application to congenital heart disease, both isolated and associated with other congenital anomalies or syndromes. Recent advances in the understanding of copy number variants, syndromes, RASopathies, and heterotaxy/ciliopathies are provided. Insights into new research with congenital heart disease models, including genetically manipulated animals such as mice, chicks, and zebrafish, as well as human induced pluripotent stem cell-based approaches are provided to allow an understanding of how future research breakthroughs for congenital heart disease are likely to happen. It is anticipated that this review will provide a large range of health care-related personnel, including pediatric cardiologists, pediatricians, adult cardiologists, thoracic surgeons, obstetricians, geneticists, genetic counselors, and other related clinicians, timely information on the genetic aspects of congenital heart disease. The objective is to provide a comprehensive basis for interdisciplinary care for those with congenital heart disease.

https://www.ahajournals.org/doi/pdf/10.1161/CIR.0000000000000606

Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

As genetic health care and genetic testing expand from primarily addressing conditions that are exclusively genetic in nature to common diseases with both genetic and environmental components, the scope of genetic counseling has grown. Identification and utilization of a normative model of practice defined by members of the profession is critical as genetic services become more commonplace in medical care. The purpose of this paper is to describe the results of a consensus conference convened to define a model of genetic counseling practice based on the guidance of educators and leaders in the profession. Twenty-three program directors or their representatives from 20 genetic counseling graduate programs in North America listened to presentations and participated in group discussions aimed at determining the elements of a model of practice, including tenets, goals, strategies, and behaviors for addressing patients' genetic concerns. Their discussion is summarized, training implications and research recommendations are presented, and a model of practice that extends their ideas is proposed.

https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10897-007-9113-4

Coming Full Circle: A Reciprocal-Engagement Model of Genetic Counseling Practice

Substantial progress has been made recently in understanding the genetic basis of cardiomyopathy. Cardiomyopathies with known genetic cause include hypertrophic (HCM), dilated (DCM), restrictive (RCM), arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and left ventricular noncompaction (LVNC). HCM, DCM, and RCM have been recognized as distinct clinical entities for decades, whereas ARVD/C and LVNC are relative newcomers to the field. Hence the clinical and genetic knowledge for each cardiomyopathy varies, as do the recommendations and strength of evidence.

Genetic Evaluation of Cardiomyopathy - a Heart Failure Society of America Practice Guideline

The NSGC definition of genetic counseling states that genetic counseling is the process of helping people understand and adapt to the medical, psychological, and familial implications of the genetic contributions to disease. This process integrates:


Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.


Education about inheritance, testing, management, prevention, resources and research.


Counseling to promote informed choices and adaptation to the risk or condition.





The full definition may be most useful for teaching and research purposes. Alternatively, it can be shortened to only the first sentence. We anticipate that the shorter version will be most useful for marketing, policy, legislation and educational materials.

https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10897-005-9014-3

Sandra Blum

Papers

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.