Roadmap to a career in cardiogenetics.
Roadmap to a career in cardiogenetics.
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DOI：
10.1136/heartjnl-2021-320692
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发表时间：
2022-09-26
期刊：
影响因子：
5.7
通讯作者：
Cingolani, Eugenio
中科院分区：
文献类型：
--
作者：
Jones, Xaviar Michael;Cingolani, Eugenio
人类基因组的突破性发现沿着下一代测序（NGS）技术的进步，使得对遗传性心血管疾病（ICC）的研究比以往任何时候都更加强大。基因检测的普及增加了早期发现ICC的机会，使多学科基因团队能够为患者和家庭提供及时的护理。此外，最近通过复杂技术在基因调控方面的进展为治疗学和从实验室到床边的可翻译性的新时代奠定了基础。虽然心脏遗传学的好处是显而易见的，但大多数研究员既没有得到稀缺的接触，也没有获得评估此类疾病风险潜力的工具。1尽管缺乏标准化的培训课程，但心脏遗传学职业的多种途径并存（图1）。2 ICC的异质性和复杂性要求了解心脏病学的不同领域，包括心律失常、心力衰竭、心血管成像（超声心动图、CT、MRI）、预防心脏病学和儿科心血管医学。3临床实践的基本能力，如遗传检测结果和多基因风险评分的解释，基因型-表型相关性，谱系的构建和对咨询类型的熟悉（预测试和后测试）构成了心脏遗传学成功职业生涯的核心要素。3-5为了达到这种专业知识的深度，建议将遗传原理的平衡暴露与“动手”经验相结合，将遗传知识融入日常案例。遗传能力的获得可以通过专家提供的研讨会或研讨会来进行，以增强对基本遗传概念及其在实践中应用的理解，包括：（1）遗传学和基因组学介绍，（2）基因检测和变异介绍，（3）遗传模式，（4）家族史和健康记录，（5）遗传疾病的信息来源（例如，OMIM、GeneReview等）和（6）遗传咨询的好处和局限性。此外，科学界（例如，欧洲人类遗传学学会，遗传学/基因组学能力中心等）提供在线教育材料，以加强遗传概念，解决假设的“现实生活”情况，扩大科学网络，教学和自学目的。将遗传学概念应用于实际情况对于临床专业知识至关重要。这可以通过心脏遗传学诊所的门诊轮换来实现，包括接触遗传咨询师以了解临床实践和咨询的法律的和伦理界限，谁和何时进行测试，以及每个病例最合适的测试类型，参加心血管成像核心以了解解剖和功能发现与风险预测评分之间的相关性，熟悉临床指南和正在进行的涉及遗传性疾病患者的试验，以及研究轮换，以了解ICC家族中心脏遗传学研究的方法学，法医学和伦理学意义。在过去的十年中，心血管疾病的遗传学研究已经看到了兴趣的稳步上升。虽然它目前更多地作为概念验证而不是治疗选择，但快速发展的技术和遗传理解为不久的将来的翻译适用性带来了希望。对于那些对医生-科学家职业感兴趣的人来说，额外的一年将提供对罕见疾病分子驱动因素的更深入理解，
Groundbreaking discoveries in the human genome along with advances in nextgeneration sequencing (NGS) technologies made the study of inherited cardiovascular conditions (ICCs) more powerful than ever. The increased availability of genetic testing potentiates the opportunity of early detection of ICC, enabling a multidisciplinary genetic team to provide timely care to patients and families. Additionally, recent advances in gene modulation through sophisticated techniques set the stage for a new era in therapeutics and translatability from bench-to-bedside. Although the benefits of cardiogenetics are evident, most fellows receive neither scarce exposure nor acquisition of tools to assess risk potential of such diseases. 1 Despite the absence of a standardised training curriculum, multiple pathways to a career in cardiogenetics coexist (figure 1). 2 The heterogeneity and complexity of ICC demands acquaintance in diverse areas of cardiology, including arrhythmias, heart failure, cardiovascular imaging (echocardiography, CT, MRI), preventive cardiology and paediatric cardiovascular medicine. 3 Essential competencies for clinical practice, such as interpretation of genetic test results and polygenic risk scores, genotype–phenotype correlations, construction of pedigrees and familiarity with types of counselling (pretest and post-test) constitute core elements for a successful career in cardiogenetics. 3–5 To achieve this depth of expertise, combining balanced exposure of genetic principles with ‘hands-on’experience is recommended, to integrate genetic knowledge to day-to-day cases. The acquisition of genetic competencies can occur through seminars or workshops provided by experts to enhance the understanding of basic genetic concepts and their application to practice, including:(1) introduction to genetics and genomics,(2) introduction to genetic testing and variants,(3) patterns of inheritance,(4) family history and health record,(5) sources of information on genetic disorders (eg, OMIM, GeneReview, etc) and (6) benefits and limitations of genetic counselling. Additionally, online educational materials are made available by scientific communities (eg, The European Society of Human Genetics, Genetics/Genomics Competency Center, etc) to reinforce genetic concepts, resolve hypothetical ‘real-life’situations, expand the scientific network, teaching and self-learning purposes. The application of genetic concepts to practical scenarios is crucial for clinical expertise. This can be accomplished through outpatient rotation in a cardiogenetics clinic, including exposure to a genetic counsellor to understand legal and ethical boundaries of clinical practice and counselling, who and when to test, as well as most appropriate type of test for each case, attendance to cardiovascular imaging core to understand correlation between anatomic and functional findings with risk prediction scores, familiarisation with clinical guidelines and ongoing trials involving patients with genetic diseases, and research rotation to understand methodology, medicolegal, and ethical implications of cardiogenetic investigation in families with ICC.Over the last decade, genetic research in cardiovascular conditions has seen a steady rise of interest. Although it currently serves more as a proof of concept than a therapeutic option, the rapidly evolving technologies and genetic understanding pose a glean of hope to near-future translational applicability. For those interested in a physician-scientist career, an additional year would provide deeper understanding of molecular drivers of rare disorders, bioinformatics in
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