[Coronary artery disease from a perspective of genomic risk score, ethical approaches and suggestions]

Deniz Ağırbaşlı1, Yeşim Işıl Ülman

  • 1Acıbadem Üniversitesi Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı İstanbul-Turkey. deniz.agirbasli@acibadem.edu.tr

Insights

Genetic testing for complex diseases like coronary artery disease is challenging due to multiple factors. This review explores ethical issues in genetic risk scoring to balance patient autonomy and responsibility.

Area of Science:

  • Genetics
  • Cardiovascular Diseases
  • Complex Traits

Context:

  • Coronary artery disease (CAD) is a major cause of mortality and is studied as a complex trait.
  • Predictive genetic testing for cardiovascular diseases is available but faces challenges in integrating genetic variants, environmental factors, and family history into a single risk score.
  • Individual susceptibility alleles contribute minimally to disease development, necessitating a comprehensive approach.

Purpose:

  • To review attempts to resolve ethical issues related to genetic testing in complex diseases.
  • To balance patient autonomy with individual responsibility in understanding genetic risk.
  • To ensure patient beneficence and confidentiality in genetic counseling.

Summary:

  • Aggregating data from multiple genetic variants, environmental factors, and family history for a single risk score in complex diseases remains difficult.
  • Genetic information involves probabilities that require clear explanation by genetic counselors to patients and families.
  • Novel techniques are needed to understand interactions among genetic, environmental, and ethnic factors in complex diseases.

Impact:

  • Personalized genetic information may improve outcomes of standardized treatments for complex diseases.
  • The rise of individual genetic risk assessment introduces new ethical challenges.
  • Multifaceted progress in genetic risk scoring, therapeutic processes, and ethical policies is crucial to prevent discriminatory use of genetic information.

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