Concerns have been raised over the quality of evidence on the performance of medical artificial intelligence devices, including devices that are already on the market in the USA and Europe. Recently, the Medical Device Regulation, which aims to set high standards of safety and quality, has become applicable in the European Union. The aim of this article is to discuss whether, and how, the Medical Device Regulation will help improve the safety and performance of medical artificial intelligence devices entering the market. The Medical Device Regulation introduces new rules for risk classification of the devices, which will result in more devices subjected to a higher degree of scrutiny before entering the market; more stringent requirements on clinical evaluation, including the requirement for appraisal of clinical data; new requirements for post-market surveillance, which may help spot early on any new, unexpected side effects and risks of the devices; and requirements for notified bodies, including for expertise of the personnel and consideration of relevant best practice documents. The guidance of the Medical Device Coordination Group on clinical evaluation of medical device software and the MEDDEV2.7 guideline on clinical evaluation also attend to some of the problems identified in studies on medical artificial intelligence devices. The Medical Device Regulation will likely help improve the safety and performance of the medical artificial intelligence devices on the European market. The impact of the Regulation, however, is also dependent on its adequate enforcement by the European Union member states.
A variety of health-related genetic testing is currently advertized directly to consumers. This article provides a timely overview of direct-to-consumer genetic testing (DTC GT) and salient ethical issues, as well as an analysis of the impact of the recently adopted regulation on in vitro diagnostic medical devices on DTC GT. DTC GT companies currently employ new testing approaches, report on a wide spectrum of conditions and target new groups of consumers. Such activities raise ethical issues including the questionable analytic and clinical validity of tests, the adequacy of informed consent, potentially misleading advertizing, testing in children, research uses and commercialization of genomic data. The recently adopted regulation on in vitro diagnostic medical devices may limit the offers of predisposition DTC GT in the EU market.
Correspondence18 February 2021Open Access Reply to Bronstein and Vinogradov Emilia Niemiec Corresponding Author Emilia Niemiec [email protected] orcid.org/0000-0001-6401-3925 Medical Ethics Division, Department of Clinical Sciences, Lund University, Lund, Sweden Search for more papers by this author Emilia Niemiec Corresponding Author Emilia Niemiec [email protected] orcid.org/0000-0001-6401-3925 Medical Ethics Division, Department of Clinical Sciences, Lund University, Lund, Sweden Search for more papers by this author Author Information Emilia Niemiec *,1 1Medical Ethics Division, Department of Clinical Sciences, Lund University, Lund, Sweden *Corresponding author. E-mail: [email protected] EMBO Reports (2021)22:e52500https://doi.org/10.15252/embr.202152500 Reply to: MV Bronstein & S Vinogradov (this issue) PDFDownload PDF of article text and main figures. ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinked InMendeleyWechatReddit Figures & Info I thank Michael Bronstein and Sophia Vinogradov for their interest and comments. I would like to respond to a few of their points. First, I agree with the authors that empirical studies should be conducted to validate any approaches to prevent the spread of misinformation before their implementation. Nonetheless, I think that the ideas I have proposed may be worth further discussion and inspire empirical studies to test their effectiveness. Second, the authors warn that informing about the imperfections of scientific research may undermine trust in science and scientists, which could result in higher vulnerability to online health misinformation (Roozenbeek et al, 2020; Bronstein & Vinogradov, 2021). I believe that transparency about limitations and problems in research does not necessarily have to diminish trust in science and scientists. On the contrary, as Veit et al put it, “such honesty… is a prerequisite for maintaining a trusting relationship between medical institutions (and practitioners) and the public” (Veit et al, 2021). Importantly, to give an honest picture of scientific research, information about its limitations should be put in adequate context. In particular, the public also should be aware that “good science” is being done by many researchers; we do have solid evidence of effectiveness of many medical interventions; and efforts are being taken to address the problems related to quality of research. Third, Bronstein and Vinogradov suggest that false and dangerous information should be censored. I agree with the authors that “[c]ensorship can prevent individuals from being exposed to false and potentially dangerous ideas” (Bronstein & Vinogradov, 2021). I also recognize that some information is false beyond any doubt and its spread may be harmful. What I am concerned about are, among others, the challenges related to defining what is dangerous and false information and limiting censorship only to this kind of information. For example, on what sources should decisions to censor be based and who should make such decisions? Anyone, whether an individual or an organization, with a responsibility to censor information will likely not only be prone to mistakes, but also to abuses of power to foster their interests. Do the benefits we want to achieve by censorship outweigh the potential risks? Fourth, we need rigorous empirical studies examining the actual impact of medical misinformation. What exactly are the harms we try to protect against and what is their scale? This information is necessary to choose proportionte and effective measures to reduce the harms. Bronstein and Vinogradov give an example of a harm which may be caused by misinformation—an increase in methanol poisoning in Iran. Yet, as noticed by the authors, misinformation is not the sole factor in this case; there are also cultural and other contexts (Arasteh et al, 2020; Bronstein & Vinogradov, 2021). Importantly, the methods of studies exploring the effects of misinformation should be carefully elaborated, especially when study participants are asked to self-report. A recent study suggests that some claims about the prevalence of dangerous behaviors, such as drinking bleach, which may have been caused by misinformation are largely exaggerated due to the presence of problematic respondents in surveys (preprint: Litman et al, 2021). Last but not least, I would like to call attention to the importance of how veracity of information is determined in empirical studies on misinformation. For example, in a study of Roozenbeek et al, cited by Bronstein and Vinogradov, the World Health Organization (WHO) was used as reliable source of information, which raises questions. For instance, Roozenbeek et al (2020) used a statement “the coronavirus was bioengineered in a military lab in Wuhan” as an example of false information, relying on the judgment of the WHO found on its “mythbusters” website (Roozenbeek et al, 2020). Yet, is there a solid evidence to claim that this statement is false? At present, at least some scientists declare that we cannot rule out that the virus was genetically manipulated in a laboratory (Relman, 2020; Segreto & Deigin, 2020). Interestingly, the WHO also no longer excludes such a possibility and has launched an investigation on this issue (https://www.who.int/health-topics/coronavirus/origins-of-the-virus, https://www.who.int/emergencies/diseases/novel-coronavirus-2019/media-resources/science-in-5/episode-21---covid-19---origins-of-the-sars-cov-2-virus); the information about the laboratory origin of the virus being false is no longer present on the WHO “mythbusters” website (https://www.who.int/emergencies/diseases/novel-coronavirus-2019/advice-for-public/myth-busters). Against this backdrop, some results of the study by Roozenbeek et al (2020) seem misleading. In particular, the perception of the reliability of the statement about bioengineered virus by study participants in Roozenbeek et al (2020) does not reflect the susceptibility to misinformation, as intended by the researchers, but rather how the respondents perceive reliability of uncertain information. I hope that discussion and research on these and related issues will continue. References Arasteh P, Pakfetrat M, Roozbeh J (2020) A surge in methanol poisoning amid COVID-19 pandemic: why is this occurring? Am J Med Sci 360: 201CrossrefPubMedWeb of Science®Google Scholar Bronstein MV, Vinogradov S (2021) EMBO Rep 22: e52282Wiley Online LibraryCASPubMedWeb of Science®Google Scholar Litman L, Rosen Z, Rosenzweig C, Weinberger-Litman SL, Moss AJ, Robinson J (2021) Did people really drink bleach to prevent COVID-19? A tale of problematic respondents and a guide for measuring rare events in survey data. medRxiv https://doi.org/10.1101/2020.12.11.20246694 [PREPRINT]Google Scholar Relman DA (2020) Opinion: to stop the next pandemic, we need to unravel the origins of COVID-19. Proc Natl Acad Sci USA 117: 29246–29248CrossrefCASPubMedWeb of Science®Google Scholar Roozenbeek J, Schneider CR, Dryhurst S, Kerr J, Freeman ALJ, Recchia G, van der Bles AM, van der Linden S (2020) Susceptibility to misinformation about COVID-19 around the world. R Soc Open Sci 7: 201199CrossrefCASPubMedWeb of Science®Google Scholar Segreto R, Deigin Y (2020) The genetic structure of SARS-CoV-2 does not rule out a laboratory origin: SARS-COV-2 chimeric structure and furin cleavage site might be the result of genetic manipulation. BioEssays https://doi.org/10.1002/bies.202000240Wiley Online LibraryPubMedGoogle Scholar Veit W, Brown R, Earp BD (2021) In science we trust? Being honest about the limits of medical research during COVID-19. Am J Bioeth 21: 22–24CrossrefPubMedWeb of Science®Google Scholar Previous ArticleNext Article Read MoreAbout the coverClose modalView large imageVolume 22,Issue 3,03 March 2021This month's cover highlights the article Modeling by disruption and a selected-for partner for the nude locus by Jian Li, Janice L. Brissette and colleagues. The cover illustrates flash-forward genetics (the paper's approach), which converts tractable organisms into genetic models for traits that they never evolved - traits that evolved in lineages of life that are unsuited to forward genetics ("intractable" organisms). The approach prompts tractable organisms to acquire traits of intractable organisms incrementally and thus to experience a kind of "flash forward" along another evolutionary path. The illustration shows a fruit fly acquiring traits of a mouse through the transforming power of Aladdin's lamp (representing flash-forward genetics). (Cover concept by Sydney Rodriguez and Ki Won (Ambrose) Kwak. Cover illustration by Sydney Rodriguez) Volume 22Issue 33 March 2021In this issue ReferencesRelatedDetailsLoading ...
Abstract Background Public trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear what measures are most likely to demonstrate this. Methods We analyse the ‘Your DNA, Your Say’ online survey of public perspectives on genomic data sharing including responses from 36,268 individuals across 22 low-, middle- and high-income countries, gathered in 15 languages. We examine how participants perceived the relative value of measures to demonstrate the trustworthiness of those using donated DNA and/or medical information. We examine between-country variation and present a consolidated ranking of measures. Results Providing transparent information about who will benefit from data access was the most important measure to increase trust, endorsed by more than 50% of participants across 20 of 22 countries. It was followed by the option to withdraw data and transparency about who is using data and why. Variation was found for the importance of measures, notably information about sanctions for misuse of data—endorsed by 5% in India but almost 60% in Japan. A clustering analysis suggests alignment between some countries in the assessment of specific measures, such as the UK and Canada, Spain and Mexico and Portugal and Brazil. China and Russia are less closely aligned with other countries in terms of the value of the measures presented. Conclusions Our findings highlight the importance of transparency about data use and about the goals and potential benefits associated with data sharing, including to whom such benefits accrue. They show that members of the public value knowing what benefits accrue from the use of data. The study highlights the importance of locally sensitive measures to increase trust as genomic data sharing continues globally.
This paper reports findings from Germany-based participants in the "Your DNA, Your Say" study, a collaborative effort among researchers in more than 20 countries across the world to explore public attitudes, values and opinions towards willingness to donate genomic and other personal data for use by others. Based on a representative sample of German residents (n = 1506) who completed the German-language version of the survey, we found that views of genetic exceptionalism were less prevalent in the German-language arm of the study than in the English-language arm (43% versus 52%). Also, people's willingness to make their data available for research was lower in the German than in the English-language samples of the study (56% versus 67%). In the German sample, those who were more familiar with genetics, and those holding views of genetic exceptionalism were more likely to be willing to donate data than others. We explain these findings with reference to the important role that the "right of informational self-determination" plays in German public discourse. Rather than being a particularly strict interpretation of privacy in the sense of a right to be left alone, the German understanding of informational self-determination bestows on each citizen the responsibility to carefully consider how their personal data should be used to protect important rights and to serve the public good.
Whole genome and exome sequencing (WGS and WES) raise numerous ethical, legal and social issues (ELSI), such as related to informed consent and usage of sequencing data in research. These concerns may be amplified when genomic sequencing is offered direct-to-consumer (DTC) bypassing the traditional heathcare system. This thesis discusses ELSI related to WES/WGS and DTC genetic testing, provides an overview of current DTC genetic testing market, and analyses the impact of the recently adopted Regulation of the European Parliament and of the Council on in vitro diagnostic medical devices on DTC genetic testing.
To provide insights into how ethical issues are addressed in DTC offer of WES/WGS, content analysis of websites of relevant DTC companies was conducted; the results were compared to relevant recommendations of expert groups. The analysis revealed the following concerns: lack of pre-test counselling, inadequate informed consent documents for genetic testing and/or for research activities on consumers’ samples and data, lack of relevant information and/or presence of potentially misleading descriptions in some of the companies studied. Consequently, consumers might not be aware of all the implications of undergoing WGS/WES, and their informed consent may be compromised.
Another study presented in this thesis evaluated readability of informed consent forms for clinical WGS and WES using the SMOG and the Flesch-Kincaid formulas. All 36 forms studied failed to meet the average recommended reading grade level for informed consent forms, indicating that the content of the forms may not be comprehensible to many patients.
In order to respect patients/consumers, the compliance with ethical standards when offering genetic testing should be strived for, also in the commercial DTC offer of WES and WGS. The findings presented herein indicate specific areas in which practices should be improved and provide reference and guidance for well-informed and potentially policy-relevant discussions between various stakeholders.
High throughput approaches such as whole genome sequencing (WGS) and whole exome sequencing (WES) create an unprecedented amount of data providing powerful resources for clinical care and research. Recently, WGS and WES services have been made available by commercial direct-to-consumer (DTC) companies. The DTC offer of genetic testing (GT) has already brought attention to potentially problematic issues such as the adequacy of consumers' informed consent and transparency of companies' research activities. In this study, we analysed the websites of four DTC GT companies offering WGS and/or WES with regard to their policies governing storage and future use of consumers' data and samples. The results are discussed in relation to recommendations and guiding principles such as the "Statement of the European Society of Human Genetics on DTC GT for health-related purposes" (2010) and the "Framework for responsible sharing of genomic and health-related data" (Global Alliance for Genomics and Health, 2014). The analysis reveals that some companies may store and use consumers' samples or sequencing data for unspecified research and share the data with third parties. Moreover, the companies do not provide sufficient or clear information to consumers about this, which can undermine the validity of the consent process. Furthermore, while all companies state that they provide privacy safeguards for data and mention the limitations of these, information about the possibility of re-identification is lacking. Finally, although the companies that may conduct research do include information regarding proprietary claims and commercialisation of the results, it is not clear whether consumers are aware of the consequences of these policies. These results indicate that DTC GT companies still need to improve the transparency regarding handling of consumers' samples and data, including having an explicit and clear consent process for research activities.
