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Cardiovascular genomics
Shu-Fen Wung1, Kathleen T Hickey, Jacquelyn Y Taylor
1The University of Arizona, Tucson, AZ, USA. shufen@nursing.arizona.edu
Insights
Cardiovascular genomics is advancing, but clinical genetic tests for common diseases like heart attack and stroke are limited. However, genetic testing is recommended for specific inherited heart conditions such as long QT syndrome and hypertrophic cardiomyopathy.
Area of Science:
- Cardiovascular Genomics
- Clinical Genetics
- Genomic Medicine
Background:
- Cardiovascular genomics research is rapidly evolving, impacting clinical practice.
- Understanding genetic contributions to cardiovascular diseases (CVD) is crucial.
- Key areas include myocardial infarction (MI), coronary artery disease (CAD), stroke, and sudden cardiac death (SCD).
Purpose of the Study:
- To provide an update on cardiovascular genomics.
- To highlight recent advances in genomic research, testing, and clinical implications.
- To focus on three clinically relevant exemplars: MI/CAD, stroke, and SCD.
Main Methods:
- A review and summary of recent salient literature by genomic nurse experts.
- Focus on updates for three selected cardiovascular genomic conditions.
Main Results:
- Ongoing research aims to identify comprehensive genetic markers for common CVDs like MI and stroke.
- Genomic technologies are increasingly adopted in clinical settings.
- Clinical application is notable in patients at risk for SCD due to conditions like long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM).
Conclusions:
- Clinically recommended genetic tests are not yet available for many common CVDs.
- Direct-to-consumer genetic tests are being marketed, necessitating careful consideration.
- Genetic testing is clinically recommended for specific single-gene disorders like LQTS and HCM.
- Nurses are vital in cardiogenetics, requiring understanding of genomic developments to translate knowledge into practice.
Purpose:
This article provides an update on cardiovascular genomics using three clinically relevant exemplars, including myocardial infarction (MI) and coronary artery disease (CAD), stroke, and sudden cardiac death (SCD). ORGANIZATIONAL CONSTRUCT: Recent advances in cardiovascular genomic research, testing, and clinical implications are presented.
Methods:
Genomic nurse experts reviewed and summarized recent salient literature to provide updates on three selected cardiovascular genomic conditions.
Findings:
Research is ongoing to discover comprehensive genetic markers contributing to many common forms of cardiovascular disease (CVD), including MI and stroke. However, genomic technologies are increasingly being used clinically, particularly in patients with long QT syndrome (LQTS) or hypertrophic cardiomyopathy (HCM) who are at risk for SCD.
Conclusions:
Currently, there are no clinically recommended genetic tests for many common forms of CVD even though direct-to-consumer genetic tests are being marketed to healthcare providers and the general public. On the other hand, genetic testing for patients with certain single gene conditions, including channelopathies (e.g., LQTS) and cardiomyopathies (e.g., HCM), is recommended clinically.
Clinical Relevance:
Nurses play a pivotal role in cardiogenetics and are actively engaged in direct clinical care of patients and families with a wide variety of heritable conditions. It is important for nurses to understand current development of cardiovascular genomics and be prepared to translate the new genomic knowledge into practice.
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