Akademik Veri Yönetim Sistemi
Türkiye Biyoetik Derneği 6.Tıp Etiği Kongresi, İstanbul, Türkiye, 25 - 26 Kasım 2010, cilt.1, ss.135
Coronary artery disease from a perspective of genomic risk score, ethical approaches
and suggestions
Deniz Agirbasli and Yesim Isil Ulman
Anadolu Kardiyol Derg 172 2012; 12: 171-7
As a leading cause of mortality, coronary artery disease is on the focus of genetic research as a complex trait. Although predictive genetic testing for
cardiovascular diseases is on the counter, it is still hard to aggregate information from multiple genetic variants, environmental factors and family history
into a single score. Every susceptibility allele provides small contribution to disease formation. Biomarkers play a role in various metabolic pathways.
Genetic information and data depend heavily on probabilities. This should be clearly explained by genetic counselor to the patient and relatives
who are looking for certain answers. Presence of susceptibility alleles can be a source of anxiety and it may result as a reduced self-confidence in
ability to change health behavior. Complex diseases set a new stage to study novel techniques that can elucidate interactions among genetic, environmental
and ethnic factors. The cookbook approach to treat a complex disease can often be misleading. Future studies may provide personalized
information, which can improve the outcome of standardized treatments. As knowing one’s own genetic risk is becoming a task for the responsible
individual, it surely will add new challenges to ethical framework. Publicly marketing genetic tests for complex diseases raises ethical concerns. To
avoid discriminatory use of genetic information; genetic risk scoring, therapeutic process, ethical policies must have a multifaceted progress. In this
review, we summarized the attempts to resolve ethical issues related to genetic testing in complex diseases to resolve patient autonomy with individual
responsibility and to aim the patient beneficence and confidentiality. (Anadolu Kardiyol Derg 2012; 12: 171-7)
Key words: Coronary artery disease, predictive genetic testing, personalized medicine, pharmacogenomics, genetic counseling, ethical concerns