Kompleks Hastalıklarda Genomik risk skorlamasının geleceği ve etik sorunlar

Ağırbaşlı D. , Işıl Ülman F. Y.

Türkiye Biyoetik Derneği 6.Tıp Etiği Kongresi, İstanbul, Turkey, 25 - 26 November 2010, vol.1, pp.135

  • Publication Type: Conference Paper / Summary Text
  • Volume: 1
  • City: İstanbul
  • Country: Turkey
  • Page Numbers: pp.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