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Is It Our Duty To Hunt for Pathogenic Mutations?
Roel H P Wouters1, Rhodé M Bijlsma2, Geert W J Frederix3
1Department of Medical Humanities, Julius Center, University Medical Center, Utrecht, The Netherlands.
Trends in Molecular Medicine
|December 17, 2017
Summary
Professionals debate whether to screen whole-genome sequencing data for all mutations or focus on precision medicine. This review examines the ethics of searching for and disclosing incidental findings.
Area of Science:
- Genomics
- Bioethics
Background:
- Whole-genome sequencing (WGS) generates vast amounts of data.
- Current practices vary regarding the extent of WGS data analysis.
Purpose of the Study:
- To ethically review the systematic screening of WGS data for incidental mutations.
- To compare the implications of actively searching versus incidentally discovering mutations.
Main Methods:
- Ethical analysis of arguments for and against comprehensive WGS data screening.
- Comparison of the ethical considerations for proactive mutation searching versus incidental disclosure.
Main Results:
- The debate centers on balancing potential benefits of broad screening against risks and resource implications.
- Incidental findings raise distinct ethical issues concerning patient autonomy and the duty to inform.
Conclusions:
- Systematic WGS data screening for all mutations presents significant ethical challenges.
- Precision medicine approaches, focusing on the primary indication for testing, are often favored, but ethical frameworks for incidental findings require careful consideration.
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