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. (shrink)

BackgroundIn the initial phase of the Covid-19 pandemic, difficult decisions had to be made on the allocation of testing resources. Similar situations can arise in future pandemics. Therefore, careful consideration of who should be tested is an important part of pandemic preparedness. We focus on four ethical aspects of that problem: how to prioritize scarce testing resources, the regulation of commercial direct-to-consumer test services, testing of unauthorized immigrants, and obligatory testing.Main textThe distribution of scarce resources for testing: We emphasize the (...) use of needs-based criteria, but also acknowledge the importance of choosing a testing strategy that contributes efficiently to stopping the overall spread of the disease. Commercial direct-to-consumer test services: Except in cases of acute scarcity, such services will in practice have to be allowed. We propose that they should be subject to regulation that ensures test quality and adequate information to users. Testing of unauthorized immigrants, their children and other people with unclear legal status: Like everyone else, these individuals may be in need of testing, and it is in society’s interest to reach them with testing in order to stop the spread of the disease. A society that offers comprehensive medical services to unauthorized immigrants is in a much better position to reach them in a pandemic than a society that previously excluded them from healthcare. Obligatory testing: While there are often strong reasons for universal testing in residential areas or on workplaces, there are in most cases better ways to achieve testing coverage than to make testing mandatory.ConclusionIn summary, we propose (1) decision-making primarily based on needs-based criteria, (2) strict regulation but not prohibition of direct-to-consumer test services, (3) test services offered to unauthorized immigrants, preferably as part of comprehensive medical services, and (4) broad outreach of testing services whenever possible, but in general not obligatory testing. (shrink)