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Genetic testing, screening, and counseling issues in cardiovascular disease
1School of Nursing, Southern Illinois University Edwardsville, USA.
Insights
Genetic risk assessment for cardiovascular disease is crucial. Early genetic evaluation and testing for conditions like hypertrophic cardiomyopathy can save lives through preventive care.
Area of Science:
- Cardiovascular Genetics
- Preventive Cardiology
- Clinical Genetics
Background:
- Genetic risk assessment for cardiovascular disease (CVD) is less developed than for cancer.
- Family history, early-onset heart disease, or specific genetic disorders warrant genetic consideration.
- Identifying heritable cardiac conditions is vital for proactive healthcare.
Purpose of the Study:
- To emphasize the importance of genetic risk assessment in cardiovascular disease.
- To guide clinicians on appropriate referral, evaluation, and counseling for genetic heart conditions.
- To highlight the role of genetic testing in preventing adverse cardiovascular events.
Main Methods:
- Review of current practices in genetic risk assessment for CVD.
- Discussion of genetic testing and screening for pediatric conditions like hypertrophic cardiomyopathy (HCM), familial hypercholesterolemia (FH), and long QT (LQT) syndrome.
- Emphasis on the integration of genetic counseling with risk assessment and testing.
Main Results:
- Genetic testing and screening, particularly in children, can enable life-saving preventive treatments.
- Preparticipation sports physicals, following American Heart Association guidelines, serve as a screening opportunity.
- Genetic testing for relatives of individuals with heritable cardiac conditions is increasingly common but raises ethical considerations, especially for minors.
Conclusions:
- Clinicians must be equipped to identify potential genetic CVD and make appropriate referrals.
- Understanding and interpreting genetic test results is essential for effective patient management.
- Genetic counseling is indispensable for comprehensive cardiovascular risk assessment and management.
Abstract:
Genetic risk assessment for cardiovascular disease is less advanced and less widely performed to date than it is for cancer. Yet it is no less important. Alert clinicians should "think genetically" and follow up appropriately when confronted with a client having a family history of heart disease, early heart disease themselves, a known genetic disorder in which cardiac problems may be a component, or signs and symptoms indicative of a familial component to the heart problem observed. It is important for the clinician to know how, when, and to whom referral for further genetic evaluation and counseling should be made. Genetic testing and screening in children or adolescents for conditions such as hypertrophic cardiomyopathy (HCM), familial hypercholesterolemia (FH), and long QT (LQT) syndrome, when indicated, can help to save lives through preventive treatment and therapeutic interventions. Preparticipation sports physicals are one means of providing such screening and are important to conduct properly under guidelines recommended by the American Heart Association. Genetic testing for relatives of persons already identified to have heritable cardiac conditions is becoming more and more integral to mainstream primary health care but engender controversy when testing of children is involved. Clinicians must know how to interpret the results of such tests. Appropriate genetic counseling must accompany risk assessment, genetic testing, and screening for cardiovascular disease.