Personal genome testing: Test characteristics to clarify the discourse on ethical, legal and societal issues [Book Review]
David Bourget (Western Ontario)
David Chalmers (ANU, NYU)
Rafael De Clercq
Jack Alan Reynolds
Learn more about PhilPapers
BMC Medical Ethics 12 (1):11- (2011)
Background: As genetics technology proceeds, practices of genetic testing have become more heterogeneous: many different types of tests are finding their way to the public in different settings and for a variety of purposes. This diversification is relevant to the discourse on ethical, legal and societal issues (ELSI) surrounding genetic testing, which must evolve to encompass these differences. One important development is the rise of personal genome testing on the basis of genetic profiling: the testing of multiple genetic variants simultaneously for the prediction of common multifactorial diseases. Currently, an increasing number of companies are offering personal genome tests directly to consumers and are spurring ELSI-discussions, which stand in need of clarification. This paper presents a systematic approach to the ELSI-evaluation of personal genome testing for multifactorial diseases along the lines of its test characteristics.DiscussionThis paper addresses four test characteristics of personal genome testing: its being a non-targeted type of testing, its high analytical validity, low clinical validity and problematic clinical utility. These characteristics raise their own specific ELSI, for example: non-targeted genetic profiling poses serious problems for information provision and informed consent. Questions about the quantity and quality of the necessary information, as well as about moral responsibilities with regard to the provision of information are therefore becoming central themes within ELSI-discussions of personal genome testing. Further, the current low level of clinical validity of genetic profiles raises questions concerning societal risks and regulatory requirements, whereas simultaneously it causes traditional ELSI-issues of clinical genetics, such as psychological and health risks, discrimination, and stigmatization, to lose part of their relevance. Also, classic notions of clinical utility are challenged by the newer notion of 'personal utility.'SummaryConsideration of test characteristics is essential to any valuable discourse on the ELSI of personal genome testing for multifactorial diseases. Four key characteristics of the test - targeted/non-targeted testing, analytical validity, clinical validity and clinical utility - together determine the applicability and the relevance of ELSI to specific tests. The paper identifies and discusses four areas of interest for the ELSI-debate on personal genome testing: informational problems, risks, regulatory issues, and the notion of personal utility
|Keywords||No keywords specified (fix it)|
|Categories||categorize this paper)|
Setup an account with your affiliations in order to access resources via your University's proxy server
Configure custom proxy (use this if your affiliation does not provide a proxy)
|Through your library|
References found in this work BETA
Antonio Casado da Rocha & José Antonio Seoane (2008). Alternative Consent Models for Biobanks: The New Spanish Law on Biomedical Research. Bioethics 22 (8):440-447.
Citations of this work BETA
No citations found.
Similar books and articles
Eline M. Bunnik, A. Cecile J. W. Janssens & Maartje H. N. Schermer (2013). Informed Consent in Direct-to-Consumer Personal Genome Testing: The Outline of A Model Between Specific and Generic Consent. Bioethics 27 (3):343-351.
David L. Wiesenthal & Neil I. Wiener (1996). Privacy and the Human Genome Project. Ethics and Behavior 6 (3):189 – 202.
Claudia Wild (2008). Polymorphism-Screening: Genetic Testing for Predisposition—Guidance for Technology Assessment. [REVIEW] Poiesis and Praxis 5 (1):1-14.
Ludvig Beckman (2004). Are Genetic Self-Tests Dangerous? Assessing the Commercialization of Genetic Testing in Terms of Personal Autonomy. Theoretical Medicine and Bioethics 25 (5-6):387-398.
Eline Bunnik, A. Cecile Janssens & Maartje Schermer (2009). How Attitudes Research Contributes to Overoptimistic Expectations of Personal Genome Testing. American Journal of Bioethics 9 (6):23-25.
Cheryl Berg & Kelly Fryer-Edwards (2008). The Ethical Challenges of Direct-to-Consumer Genetic Testing. Journal of Business Ethics 77 (1):17 - 31.
John A. Robertson (2003). The $1000 Genome: Ethical and Legal Issues in Whole Genome Sequencing of Individuals. [REVIEW] American Journal of Bioethics 3 (3):35-42.
George Munchus (1989). Testing as a Selection Tool: Another Old and Sticky Managerial Human Rights Issue. [REVIEW] Journal of Business Ethics 8 (10):817 - 820.
Nancy Green (2012). Argumentation and Risk Communication About Genetic Testing: Challenges for Healthcare Consumers and Implications for Computer Systems. Journal of Argumentation in Context 1 (1):113-129.
Herman T. Tavani (2004). Genomic Research and Data-Mining Technology: Implications for Personal Privacy and Informed Consent. Ethics and Information Technology 6 (1):15-28.
Barabara Biesecker (1998). Future Directions in Genetic Counseling: Practical and Ethical Considerations. Kennedy Institute of Ethics Journal 8 (2):145-160.
Robert Samuel Wachbroit (1998). The Question Not Asked: The Challenge of Pleiotropic Genetic Tests. Kennedy Institute of Ethics Journal 8 (2):131-144.
Rebecca Bennett (2001). Antenatal Genetic Testing and the Right to Remain in Ignorance. Theoretical Medicine and Bioethics 22 (5):461-471.
Added to index2011-06-15
Total downloads14 ( #160,462 of 1,696,180 )
Recent downloads (6 months)3 ( #177,966 of 1,696,180 )
How can I increase my downloads?