Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects

Area of Science:

• Medical Ethics
• Genetics
• Public Health Policy

Background:

• Genetic testing offers diagnostic insights but raises significant ethical considerations.
• The unique complexities of rare diseases amplify ethical challenges in genetic testing.
• Understanding these ethical dimensions is crucial for equitable healthcare system implementation.

Purpose of the Study:

• To systematically review and categorize ethical aspects of genetic testing for rare diseases.
• To provide a comprehensive overview of the literature on this topic.
• To inform policy development and professional education.

Main Methods:

• Systematic literature review of Pubmed, Science Direct, and Web of Science databases.
• Inclusion of 55 relevant publications.
• Identification and categorization of 93 distinct ethical aspects.

Main Results:

• Identified 93 ethical aspects related to genetic testing for rare diseases.
• Structured these aspects into three main categories: process of testing, consequences of test outcomes, and contextual challenges.
• Further organized into 20 subcategories, demonstrating the multifaceted nature of ethical issues.

Conclusions:

• The review highlights the extensive and complex ethical landscape surrounding genetic testing for rare diseases.
• Findings can guide further research, healthcare professional education, and international policy formulation.
• Emphasizes the need for a nuanced approach to ethical considerations in genetic services for rare conditions.