Page 130 - Cardiac Nursing

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106 PA R T I I / Physiologic and Pathologic Responses
Patient participation in the process is vital to the success of the pre- tion of CAD may be appropriate for genetically susceptible indi-
vention plan. Genetic counseling is an integral component of the viduals to guide decision making about risk factor modification.
genetic evaluation, helping to identify a patient’s motivations and However, data are lacking regarding the efficacy of this approach
understanding of the genetic risk assessment and perceived barriers in preventing clinical events. Research is necessary to investigate
and benefits to learning of a genetic risk. 180 This communication the outcome of genetic risk assessment in the management of
process ensures the opportunity to provide an informed consent, CAD. Despite the current paucity of evidence, knowledge of ge-
including discussion of the potential benefits, risks, and limitations netic CAD susceptibility likely has value in providing risk infor-
regarding genetic risk assessment and testing. 181–184 mation and guiding subsequent clinical decision making. Genet-
Generally, individuals are motivated to participate in genetic ics will play an important role in health promotion and
risk assessment with the hope that it will clarify the most appro- prevention and treatment strategies for chronic diseases such as
priate plan for disease management and prevention and for the cardiovascular disease. There is a need for informing the public
benefit that such genetic information may have for family mem- about the significance of genetic discovery and health status.
bers. Several studies have shown that family history can influence Translational research that takes the discovery of disease suscepti-
compliance with lipid screening and other preventive interven- bility genes and creates opportunities for better-targeted preven-
tions. 185 Common barriers to obtaining genetic risk information tion and treatment strategies is imperative to decrease the effect of
for common disease include fear of discrimination in the work- cardiovascular morbidity and mortality.
place and by insurers, cost, and uncertainty about the value of in-
terventions. 186–189 The evidence regarding genetic discrimination
of otherwise healthy individuals is minimal, although uncer- R EFEREN C E S
tain. 190,191 Yet because of the fear of potential discrimination, in- 1. Watson, J. (2000). The double helix revisited. The man who launched
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dividuals may choose to forego genetic risk assessment that may the Human Genome Project celebrates its success. Time, 156(1), 30.
deprive a patient of beneficial surveillance or therapeutic measures 2. Lander, E. S., Linton, L. M., Birren, B., et al. (2001). Initial sequencing
and analysis of the human genome. Nature, 409(6822), 860–921.
to reduce disease risk. The past 15 years have seen escalating in- 3. Venter, J. C., Adams, M. D., Myers, E. W., et al. (2001). The sequence
terest regarding the use of genetic information by health insur- of the human genome. Science, 291(5507), 1304–1351.
ers. 192 In 1996, the Health Insurance Portability and Account- 4. Mendel, G. (1965). Experiments in plant hybridisation. London: Oliver
ability Act (HIPAA) became the first federal law to limit the use and Boyd.
of genetic data by health insurers. It forbids, among other features, 5. Soutar, A. K., & Naoumova, R. P. (2007). Mechanisms of disease: Ge-
netic causes of familial hypercholesterolemia. Nature Clinical Practice.
health insurers from using genetic predisposition to disease as a Cardiovascular Medicine, 4(4), 214–225.
“pre-existing” condition that could delay or limit coverage. 6. Haines, J. L., & Pericak-Vance, M. A. (2006). Genetic analysis of complex
diseases (2nd ed.). Hoboken, NJ: Wiley-Liss.
7. Kullo, I. J., & Ding, K. (2007). Mechanisms of disease: The genetic ba-
ETHICAL CONSIDERATIONS sis of coronary heart disease. Nature Clinical Practice. Cardiovascular
Medicine, 4(10), 558–569.
8. Larson, M. G., Atwood, L. D., Benjamin, E. J., et al. (2007). Framing-
Sharing information about the risk of future disease can have sig- ham Heart Study 100K project: Genome-wide associations for cardio-
nificant emotional and psychological effects, also. The lack of suf- vascular disease outcomes. BMC Medical Genetics, 8(Suppl. 1), S5.
ficient privacy and legal protections could lead to discrimination 9. Kelly, P. J., Rosand, J., Kistler, J. P., et al. (2002). Homocysteine,
MTHFR 677CST polymorphism, and risk of ischemic stroke: Results
in employment and insurance or other misuse of personal genetic of a meta-analysis. Neurology, 59(4), 529–536.
information. Additionally, because genetic tests identify informa- 10. Wald, D. S., Law, M., & Morris, J. K. (2002). Homocysteine and car-
tion about individuals and their families, test results can impact diovascular disease: Evidence on causality from a meta-analysis. BMJ,
family dynamics. Results can also pose risks for population groups 325(7374), 1202.
if they lead to group stigmatization. Families or individuals who 11. Engman, M. (1998). Homocysteinemia: New information about an old
risk factor for vascular disease. Journal of Insurance Medicine, 30(4),
have genetic disorders or who are at risk for these often seek help 231–236.
from medical geneticists and genetic counselors. These profes- 12. Sharma, P. (1998). Meta-analysis of the ACE gene in ischaemic stroke.
sionals can diagnose and explain disorders, review available op- Journal of Neurology Neurosurgery, and Psychiatry, 64(2), 227–230.
tions for testing, preventive strategies, and treatment, and provide 13. McCarron, M. O., Delong, D., & Alberts, M. J. (1999). APOE genotype
as a risk factor for ischemic cerebrovascular disease: A meta-analysis.
emotional support. Other issues related to genetic tests include Neurology, 53(6), 1308–1311.
their effective introduction into clinical practice, the regulation of 14. Meyer, J. S., Mehdirad, A., Salem, B. I., et al. (2003). Sudden arrhyth-
laboratory genetic testing quality assurance, the availability of test- mia death syndrome: Importance of the long QT syndrome. American
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development, and progression of cardiovascular diseases and our lipoprotein(a) and apolipoprotein(a) phenotype in atherogenesis: Prospec-
response to risk factor modification and lifestyle choices. Identifi- tive results from the Bruneck study. Circulation, 100(11), 1154–1160.
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