A blog from the Centre for Research Ethics & Bioethics (CRB)

Tag: biobanks (Page 1 of 9)

Better evidence may solve a moral dilemma

More than 5 million women become pregnant in the EU every year and a majority take at least one medication during pregnancy. A problem today is that as few as 5% of available medications have been adequately monitored, tested and labelled with safety information for use in pregnant and breastfeeding women. The field is difficult to study and has suffered from a lack of systematically gathered insights that could lead to more effective data generation methodologies. Fragmentation and misinformation results in confusing and contradictory communication and perception of risks by both health professionals and women and their families. For the doctor who prescribes the medicine, a genuine moral dilemma arises. In order not to expose the child to risks, the lack of good scientific evidence in many cases means that, for precautionary reasons, the drug treatment is discontinued or the mother is advised not to breastfeed. At the same time, the mother benefits most from the prescribed medicine and we know that breastfeeding is good for both the newborn and the mother.

Within the project ConcePTION, several studies are underway to investigate the effect of drugs both during pregnancy and during breastfeeding. Based on the need to meet regulatory requirements, procedures have been established for breast milk collection, informed consent, shipping, storage and analysis of pharmacokinetic properties (how drugs are metabolized in the body). Five demonstration studies are conducted. The University of Oslo is doing such a study on a drug called Levocetirizine, the University Hospital of Toulouse is studying Amoxicillin and the University Hospital of Lausanne is studying the drug Venlafaxine.

In Sweden, in two demonstration studies, we will collect breast milk and blood samples from the mother and the child for two drugs: metformin, which is used in the treatment of type 2 diabetes and prednisolone, which is used in the treatment of for example rheumatoid arthritis. In both cases, there is limited data, which is partly old, from the 1970s, and partly analyzed with outdated methods. Both studies are approved by The Swedish Medical Product Authority (MPA) as low intervention clinical trials (see below). 

The studies are a collaboration between Uppsala University and several clinical centers: Sahlgrenska University Hospital/East in Gothenburg, Örebro University Hospital, Center for Clinical Children’s Studies, Astrid Lindgren Children’s Hospital in Stockholm, Södra Älvsborgs Hospital in Borås and Umeå University Hospital, with adjacent biobanks. Breast milk from the woman and blood samples from both woman and child will be transported to Uppsala Biobank for storage and analyzed with mass spectrometric methods at the Department of Pharmacy at Uppsala University. Informed consent is obtained both for the sampling and for the possibility of conducting future research on the stored samples. Collaborating biobanks are: Uppsala Biobank, Biobank West in Gothenburg, Örebro Biobank, Stockholm Medical Biobank and Biobank North in Umeå. 

Through these two studies, research biobanks with breast milk and associated blood samples are established for the first time in Sweden. In the long run, doctors and women who become pregnant can get better information for their recommendations and decisions regarding the use of medicines. 

ConcePTION is funded by the Innovative Medicines Initiative (IMI), which is a collaboration between the European Commission and the European Medicines Federation. 

Approvals by the Swedish Medical Product Authority (MPA): Dnr: 5.1.1-2023-090592 and 5.1.1-2023-104170.

Mats G. Hansson, photo by Mikael Wallerstedt

Written by…

Mats G. Hansson, senior professor of biomedical ethics at Uppsala University’s Centre for Research Ethics & Bioethics.

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Part of international collaborations

Participation in biomedical research with dynamic consent

Imagine that you are asked to participate in a biomedical research project and to provide biological samples and health data to the project. Imagine also that this research project is meant to be long-term and that you will be invited, occasionally, to provide more data and samples. If you decide to participate, you will be asked to sign an informed consent, which is a sort of social contract between you and the research study. Through this document, you consent to the use of your data and samples in scientific research, and your rights as a participant are defined. In this situation, which kind of informed consent would make you feel at ease? What would be the most appropriate consent, balancing the researchers’ need to maximize the use of data and samples against the respect for your values and rights to make autonomous decisions? Would it be an acceptable option to sign the consent form and never be contacted again? Or would you expect researchers to communicate with you and keep you updated on what is happening with the data and samples you provided? If so, you might want to feel engaged and reasonably aware of what is happening in the research, but not overwhelmed by continuous communication with the project. But how much would the “right amount” of communication be? And which ways of communicating with you would you find the easiest and most appropriate?

Ethicists, philosophers, and law experts have debated the most suitable informed consent model for biobanking research. Among the different types of consent, such as specific, broad, and meta-consent, dynamic consent has been proposed as an apt solution in the context of biomedical research, especially in long-term research endeavors such as biobanking and longitudinal studies, where research participation is foreseen to be long-lasting and require repeated participant engagement over the years.

What characteristics of dynamic consent make it particularly relevant in such a context? Participants are regularly informed about the research being conducted with their data and samples and can change their choices on participation over time. Information technology plays a central role in dynamic consent: through an online interface, participants can access and review their informed consent and obtain information about the research in which they participate. In dynamic consent, communication between researchers and participants is thus an integral part of the informed consent process. Communication ensures that participants can make autonomous decisions about their participation throughout the time they are involved in the research. Dynamic consent thus acknowledges that participants’ values and life circumstances may change over the years and that their decision on research participation may differ at a later point in life, or depending on the further development of the research. Dynamic consent makes it possible to combine broad research aims with specificity of information in long-term projects, and ongoing communication is key to this.

What might dynamic consent look like in practice? An example of a study that uses dynamic consent is Cooperative Health Research in South Tyrol (CHRIS), a longitudinally designed study conducted in Italy. Our ELSI research team is led by Deborah Mascalzoni and is located at Eurac Research. In an article, we describe crucial aspects of dynamic consent as developed in the CHRIS study. We discuss the ten years of experience of dynamic consent in the study and what we have learned so far through observations and empirical evidence. I would like to point out two elements that that we found particularly important and what the participants in our studies thought about them. One concerns the possibility of changing choices over time and the other is about the communication.

First, CHRIS participants can change their choices about the level of participation and the amount of information they want. For example, they can change their choice regarding the return of research results, decide whether they wish to be re-contacted for research and communication purposes, or want their data and samples to be shared with other research institutions. Although the overall rate of change was low, CHRIS participants appreciated being able to change choices and having detailed options, because these options were important for them and made them feel comfortable.

Second, CHRIS communication uses multiple tools and media, adapting to the socio-cultural context and aiming for accessibility. For example, the study uses both traditional and online strategies, it engages the local press, and it uses both German and Italian. The introduction of a film about the study during the consent process shortened the enrollment time because the film was perceived to provide answers to the questions participants had previously asked CHRIS study assistants. CHRIS participants appreciated the multimedia strategy, which enhanced their understanding of the study, and they valued the communication from the study.

Our studies of CHRIS participants’ experience with dynamic consent thus gave us relevant insights into the issues discussed in this blog post. If you want to read more, you can find the above-mentioned article here: Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process. A general lesson from our work is that researchers can learn from the experiences of research participants to refine the informed consent process and adapt it to the needs of participants and researchers while meeting ethical and legal requirements.

Roberta Biasiotto

Written by…

Roberta Biasiotto is a research fellow at the Department of Biomedical, Metabolic and Neural Sciences of the University of Modena and Reggio Emilia and a researcher at the Institute for Biomedicine at Eurac Research, Italy.

Mascalzoni D, Melotti R, Pattaro C, Pramstaller PP, Gögele M, De Grandi A, Biasiotto R. Ten years of dynamic consent in the CHRIS study: informed consent as a dynamic process. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01160-4

Approaching future issues

Data sharing in genomics: proposal for an international Code of Conduct

In genomics, not only individual genes are studied, but the entire genome. Such studies handle and analyse large amounts of data and are becoming increasingly common internationally. One of the challenges is managing the sharing of data between countries around the world. In addition to data protection legislation varying internationally, there are concerns that researchers and research participants from low- and middle-income countries may be exploited or disadvantaged in these exchanges.

Lawyers and bioethicists have therefore called for an international Code of Conduct for data sharing in genomics. A proposal for such a code was recently published in an article in Developing World Bioethics. The article, written by Amal Matar and nine co-authors, describes the process of developing the Code of Conduct and concludes with a nearly 4-page proposal.

The Code of Conduct is intended for researchers and other actors responsible for data management in international genomic research. The code lists ten ethical principles of direct relevance to data sharing. Next, best practices are described in 23 Articles covering seven areas: Data governance system; Data collection; Data storage; Data sharing, transfer and access; Compelled disclosure; Data handling from low- and middle-income countries; Public and community engagement.

Read the article with the proposal for a Code of Conduct here: A proposal for an international Code of Conduct for data sharing in genomics.

Pär Segerdahl

Written by…

Pär Segerdahl, Associate Professor at the Centre for Research Ethics & Bioethics and editor of the Ethics Blog.

Matar, A., Hansson, M., Slokenberga, S., Panagiotopoulos, A., Chassang, G., Tzortzatou, O., Pormeister, K., Uhlin, E., Cardone, A., & Beauvais, M. (2022). A proposal for an international Code of Conduct for data sharing in genomics. Developing World Bioethics, 1– 14. https://doi.org/10.1111/dewb.12381

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Safeguards when biobank research complies with the General Data Protection Regulation

The General Data Protection Regulation (GDPR) entails a tightening of EU data protection rules. These rules do not only apply to the processing of personal data by companies. They apply in general, also to scientific research, which in many cases could entail serious restrictions on research. However, the GDPR allows for several derogations and exemptions when it comes to research that would otherwise probably be made impossible or considerably more difficult.

Such derogations are allowed only if appropriate safeguards, which are in accordance with the regulation, are in place. But what safeguards may be required? Article 89 of the regulation mentions technical and organizational measures to ensure compliance with the principle of data minimization: personal data shall be adequate, relevant and limited to what is necessary in relation to the purposes for which they are processed. Otherwise, Article 89 does not specify what safeguards are required, or what it means that the safeguards must be in accordance with the GDPR.

Biobank and genetic research require large amounts of biological samples and health-related data. Personal data may need to be stored for a long time and reused by new research groups for new research purposes. This would not be possible if the regulation did not grant an exemption from the rule that personal data may not be stored longer than necessary and for purposes not specified at data collection. But the question remains, what safeguards may be required to grant exemption?

The issue is raised by Ciara Staunton and three co-authors in an article in Frontiers in Genetics. The article begins by discussing the regulation and how to interpret the requirement that the safeguards should be “in accordance with the GDPR.” Then six possible safeguards are proposed for biobank and genetic research. The proposal is based on a thorough review of a number of documents that regulate health research.

Here, I merely want to recommend reading to anyone working on the issue of appropriate safeguards in biobank and genetic research. Therefore, I mention only briefly that the proposed safeguards concern (1) consent, (2) independent review and oversight, (3) accountable processes, (4) clear and transparent policies and processes, (5) security, and (6) training and education.

If you want to know more about the proposed safeguards, you will find the article here: Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research.

Pär Segerdahl

Written by…

Pär Segerdahl, Associate Professor at the Centre for Research Ethics & Bioethics and editor of the Ethics Blog.

Ciara Staunton, Santa Slokenberga, Andrea Parziale and Deborah Mascalzoni. Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research. Frontiers in Genetics. 18 February 2022 doi: 10.3389/fgene.2022.719317

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Dynamic consent: broad and specific at the same time

The challenge of finding an appropriate way to handle informed consent to biobank research is big and has often been discussed here on the Ethics Blog. Personal data and biological samples are collected and saved for a long time to be used in future research, for example, on how genes and the environment interact in various diseases. The informed consent to research is for natural reasons broad, because when collecting data and samples it is not yet possible to specify which future research studies the material will be used in.

An unusually clear and concise article on biobank research presents a committed approach to the possible ethical challenges regarding broad consent. The initial broad consent to research is combined with clearly specified strong governance and oversight mechanisms. The approach is characterized also by continuous communication with the research participants, through which they receive updated information that could not be given at the time of the original consent. This enables participants to stay specifically informed and make autonomous choices about their research participation through time.

The model is called dynamic consent. This form of consent can be viewed as broad and specific at the same time. The article describes experiences from a long-term biobank study in South Tyrol in Italy, the CHRIS study, where dynamic consent is implemented since 2011. The model is now used to initiate the first follow-up phase, where participants are contacted for further sampling and data collection in new studies.

The article on dynamic consent in the CHRIS study is written by Roberta Biasiotto, Peter P. Pramstaller and Deborah Mascalzoni. In addition to describing their experiences of dynamic consent, they also respond to common objections to the model, for example, that participants would be burdened by constant requests for consent or that participants would have an unreasonable influence over research.

I would like to emphasize once again the clarity of the article, which shows great integrity and courage. The authors do not hide behind a facade of technical terminology and jargon, so that one must belong to a certain academic discipline to understand. They write broadly and specifically at the same time, I am inclined to say! This inspires confidence and indicates how sincerely one has approached the ethical challenges of involving and communicating with research participants in the CHRIS study.

Pär Segerdahl

Written by…

Pär Segerdahl, Associate Professor at the Centre for Research Ethics & Bioethics and editor of the Ethics Blog.

Biasiotto, Roberta; Pramstaller, Peter P.; Mascalzoni, Deborah. 2021. The dynamic consent of the Cooperative Health Research in South Tyrol (CHRIS) study: broad aim within specific oversight and communication. Part of BIOLAW JOURNAL-RIVISTA DI BIODIRITTO, pp. 277-287. http://dx.doi.org/10.15168/2284-4503-786

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We care about communication

Global sharing of genomic data requires perspicuous research communication

To understand how our genes affect health and disease, drug reactions, and much more, researchers need to share vast amounts of data from people in different parts of the world. This makes genomic research dependent on public trust and support.

Do people in general trust research? Are we willing to donate DNA and health information to researchers? Are we prepared to let researchers share the information with other researchers, perhaps in other parts of the world? Even with researchers at for-profit companies? These and other issues were recently examined in the largest study to date about the public’s attitudes to participating in research and sharing genetic information. The questionnaire was translated into 15 languages ​​and answered by 36,268 people in 22 countries.

The majority of respondents are unwilling or unsure about donating DNA and health information to research. In general, the respondents are most willing to donate to research physicians, and least willing to donate to for-profit researchers. Less than half of the respondents say they trust data sharing between several users. The study also reveals differences between countries. In Germany, Poland, Russia and Egypt, for example, trust in data sharing between several users is significantly lower than in China, India, the United Kingdom and Pakistan.

The study contains many more results that are interesting. For example, people who claim to be familiar with genetics are more willing to donate DNA and health data. Especially those with personal experience of genetics, for example, as patients or as members of families with hereditary disease, or through one’s profession. However, a clear majority say they are unfamiliar with the concepts of DNA, genetics and genomics. You can read all the results in the article, which was recently published in The American Journal of Human Genetics.

What practical conclusions can we draw from the study? The authors of the article emphasize the importance of increasing the public’s familiarity with genomic research. Researchers need to build trust in data collection and sharing. They need to participate in dialogues that make it clear why they share large amounts of data globally. Why is it so important? It also needs to become more understandable why not only physicians can carry out the research. Why are collaborations with for-profit companies needed? Moreover, what significance can genetic techniques have for future patients?

Well-functioning genomic research thus needs well-functioning research communication. What then is good research communication? According to the article, it is not about pedagogically illustrating the molecular structure of DNA. Rather, it is about understanding the conditions and significance of genomic research for healthcare, patients, and society, as well as the role of industry in research and development.

Personally, I want to put it this way. Good research communication helps us see things more perspicuously. We need continuous overviews of interrelated parts of our own societies. We need to see our roles and relationships with each other in complex societies with different but intertwined activities, such as research, healthcare, industry, and much more. The need for perspicuous overviews also applies to the experts, whose specialties easily create one-sidedness.

In this context, let me cautiously warn against the instinctive reaction to believe that debate is the obvious form of research-communicative exchange of thoughts. Although debates have a role to play, they often serve as arenas for competing perspectives, all of which want to narrow our field of view. This is probably the last thing we need, if we want to open up for perspicuous understandings of ourselves as human beings, researchers, donors, entrepreneurs, healthcare professionals and patients. How do we relate to each other? How do I, as a donor of DNA to researchers, relate to the patients I want to help?

We need to think carefully about what it means to think freely, together, about common issues, such as the global sharing of genomic data.

Pär Segerdahl

Written by…

Pär Segerdahl, Associate Professor at the Centre for Research Ethics & Bioethics and editor of the Ethics Blog.

Middleton A., Milne R. and Almarri M.A. et al. (2020). Global public perceptions of genomic data sharing: what shapes the willingness to donate DNA and health data? American Journal of Human Genetics. DOI:https://doi.org/10.1016/j.ajhg.2020.08.023

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We like broad perspectives

Broad and deep consent for biobanks

Pär SegerdahlA new article on consent for biobanks manages to surprise me. How? By pointing out what ought to be obvious! If we want to judge what kind of consent works best for biobanks, then we should look at today’s biobanks and not look back at more traditional medical research.

The risks in traditional medical research are mainly physical. Testing new substances and interventions on human subjects can harm them. Potential research participants must therefore be informed about these physical risks, which are unique to each specific project. For this reason, study-specific informed consent is essential in traditional medical research.

In biobank research, however, the risks are primarily informational. Personal data may end up in the wrong hands. The risks here are not so much linked to the specific projects that use material from the biobank. The risks are rather linked to the biobank itself, to how it is governed and controlled. If we want to give biobank participants ethical protection through informed consent, it is information about the biobank they need, not about specific projects.

In the debate on consent for biobanks, study-specific consent figured as a constant requirement for what informed consent must be. However, in the context of biobanks, that requirement risks placing an irrelevant demand on biobanks. Participants will receive the wrong protection! What to do?

Instead of looking back, as if study-specific consent were an absolute norm for medical research, the authors formulate three requirements that are relevant to today’s biobanks. First, potential participants should be informed about relevant risks and benefits. Second, they should be given an opportunity to assess whether research on the biobank material is in line with their own values. Finally, they should be given ethical protection as long as they participate, as well as opportunities to regularly reconsider their participation.

In their comparison of the various forms of consent that have figured in the debate, the authors conclude that broad consent particularly well satisfies the first criterion. Since the risks are not physical but concern the personal data that the biobank stores, information to participants about the biobank itself is more relevant than information about the specific projects that use the services of the biobank. That is what broad consent delivers.

However, the authors argue that broad consent fails to meet the latter two criteria. If potential participants are not informed about specific projects, it becomes difficult to judge whether the biobank material is used according to their values. In addition, over time (biobank material can be saved for decades) participants may even forget that they have provided samples and data to the biobank. This undermines the value of their right to withdraw consent.

Again, what to do? The authors propose a deepened form of broad consent, meant to satisfy all three requirements. First, the information provided to participants should include a clear scope of the research that is allowed to use the biobank material, so that participants can judge whether it is consistent with their own values, and so that future ethical review can assess whether specific projects fall within the scope. Secondly, participants should be regularly informed about the activities of the biobank, as well as reminded of the fact that they still participate and still have a right to withdraw consent.

Ethical reasoning is difficult to summarize. If you want to judge for yourself the authors’ conclusion that broad and deep consent is best when it comes to biobanks, I must refer you to the article.

In this post, I mainly wanted to highlight the originality of the authors’ way of discussing consent: they formulate new relevant criteria to free us from old habits of thought. The obvious is often the most surprising.

Pär Segerdahl

Rasmus Bjerregaard Mikkelsen, Mickey Gjerris, Gunhild Waldemar & Peter Sandøe. Broad consent for biobanks is best – provided it is also deep. BMC Medical Ethics volume 20, Article number: 71 (2019)

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In-depth critique of dynamic consent

Pär SegerdahlBiobanks are getting bigger and the human biological samples that are stored in the freezers have increasingly long-term utility for research. The samples can be used not only in one study, but also in several different studies. Not only in today’s research, but also in future research. This creates research ethical tensions.

Ethics requires that research participants are informed about and consent to the specific purpose of the project they are asked to participate in. However, when a large-scale biobank is being constructed, such specific information cannot be provided. Future research purposes do not exist yet and cannot be specified. Not until researchers in the future design new studies. How then can biobank research be conducted ethically?

In recent years, a technical solution has been launched: Transform research participants into users of new information and communication technologies (ICT)! Through their computers, tablets or cell phones, they can continuously be informed about new research projects. Sitting in front of their screens, they can give specific consent, or refrain from it, as new projects take shape and researchers apply for access to the biobank’s collected samples. The solution is named dynamic consent.

Dynamic consent certainly seems like an ingenious technical solution to the ethical tensions surrounding today’s increasingly long-term and large-scale biobanks. Moreover, is it not also democratic and politically progressive? Does it not give research participants greater power over the research? Is it not as if all these hundreds of thousands of donors of biological material voted on the direction of future research? Simply by deciding on the use of their own samples.

I recently read an in-depth critique of this belief in a technical solution to the ethical problem. The article is written by Alexandra Soulier at CRB, and focuses on ethical and political consequences of turning research participants into ICT users. Here are some comments that I want to highlight:

The public good that we associate with research is not the sum of isolated individuals’ private preferences in front of their computer screens. Dynamic consent is in tension with the collective and long-term nature of biobank research, and with the notion of the public good which research aims at.

If individual ICT users’ private decisions replace the joint discussions, considerations and functions of ethical committees, the governance of biobanks can be impaired. This, in turn, poses a risk to the participants themselves.

Dynamic consent might transform research participants into seducible audiences. Researchers may want to sell their projects to these audiences through clever communication strategies. Research participants are then treated as manipulable rather than as a rational public to be convinced.

Dynamic consent is not a referendum. Research participants do not vote on research policy issues. They only express their private preferences about their own research participation, project by project, without regard to any research policy implications for the long-term activities of the biobank.

Research participants who do not want to spend years in front of the screen in order to make decisions in real time about their participation in biobank research may feel forced to choose the option (through their technical device) to give exactly the open consent to future research that originally was considered problematic. How can what was considered to be the ethical problem be allowed to be included in the seemingly smart solution?

In summary, the proposed individual-centered technical solution to the ethical challenges of biobank research short-circuits the possibility of jointly taking political and ethical responsibility for these challenges.

I regret that I cannot do justice to Alexandra Soulier’s subtle discussion. I have not read such in-depth criticism in a long time. Read it!

Pär Segerdahl

Soulier, Alexandra. Reconsidering dynamic consent in biobanking: ethical and political consequences of transforming research participants into ICT users. IEEE Technology and Society Magazine, June 2019: 62-70

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People want to be able to influence the risk

Pär SegerdahlWe need to do research to know what people think is important in genetic risk information. What they prefer to know. But how do we find out? One way is to ask people to answer questionnaires.

One problem with questionnaires is that they ask one thing at a time. Do you prefer a hotel room with a sea view when you are on vacation? You probably answer yes. But do you prefer the sea view even if the room is above the disco, or costs 500 EUR per night? If you only ask one thing at a time, then it is difficult to know how different factors interact, how important they are relative to each other.

One way to get past this limitation is to ask people to choose between two alternatives, where the alternatives have several different attributes.

  • Hotel room A: (1) View: sea (2) Price: 200 EUR per night (3) Distance to the center: 30 minutes walk (4) Sound level: high.
  • Hotel room B: (1) View: parking (2) Price: 100 EUR per night (3) Distance to the center: 40 minutes bus ride (4) Sound level: low.

Which room do you choose, A or B? The choice tasks are repeated while the attributes are varied systematically. In this way, one can learn more about what people prefer, than through a regular questionnaire. One can see how different attributes interact and which attributes are more important than others are. One can also calculate how much more important an attribute is over another.

The same kind of study can be done about genetic risk information instead of hotel rooms. Jennifer Viberg Johansson at CRB recently did such a study. Four attributes of the risk information were varied in the choice tasks:

  • (1) Type of disease (2) Probability of developing disease (3) Preventive opportunities (4) Effectiveness of the preventive measure.

Which of the attributes was most important to the people who participated in the study? How much more important was it?

It turned out that the most important attribute was the effectiveness of the preventive measure. If the information contained an effective preventive measure, the respondents clearly preferred that information. The effectiveness of the preventive measure was twice as important to know, compared to the probability of developing the disease.

Apparently, it is important for people to be able to influence the risk. One conclusion in the study is that when risk information says that there is an effective preventive measure, then risk communication can focus more on the preventive measure than on the probability of developing disease.

The method is called, “Discrete Choice Experiment.” If you want to look more closely at the method and get more results, read Jennifer Viberg Johansson’s article in Genetics in Medicine.

Pär Segerdahl

Viberg Johansson, J., Langenskiöld, S., Segerdahl, P., Hansson, M.G., Hösterey Ugander, U., Gummesson, A., Veldwijk, J. Research participants’ preferences for receiving genetic risk information: a discrete choice experiment. Genetics in Medicine, 2019

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Genetic risk: Should researchers let people know?

Should researchers inform research participants if they happen to discover individual genetic risks of disease? Yes, many would say, if the information is helpful to the participants. However, the value of complex genetic risk information for individuals is uncertain. Jennifer Viberg Johansson suggests that this uncertainty needs to be acknowledged by both geneticists and ethicists.

One reason people want to participate in large genetic studies is the comprehensive health checks researchers often offer to collect data. In the future, people could also be offered information about genetic risks. According to Jennifer Viberg Johansson, there are some factors researchers should consider before offering these kinds of results.

Providing genetic risk information may not be as helpful to individuals as one may think. Knowing your genetic make-up is not the same as knowing your own probability for disease. In addition, the genetic risk information from research is not based on symptoms or personal concerns, as it would be in the healthcare system. It is thus less “personalised” and not connected to any symptoms.

Genetic risk information is complex and can be difficult to understand. To the research participants interviewed by Jennifer Viberg Johansson, risk information is something that offers them an explanation of who they are, where they are from, and where they may be heading. To them, learning about their genetic risk is an opportunity to plan their lives and take precautions to prevent disease.

Whether research participants want genetic risk information or not is more complex. Research participants themselves may change their answer depending on the way the question is asked. Risk research shows that we interpret probabilities differently, depending on the outcome and consequences. Jennifer Viberg Johansson’s work points in the same direction: probability is not an essential component of people’s decision-making when there are ways to prevent disease.

People have difficulties making sense of genetic risk when it is presented in the traditional numeric sense. It is hard to interpret what it means to have a 10 per cent or 50 per cent risk of disease. Instead, we interpret genetic risk as a binary concept: you either have risk, or you don’t. Based on her results, Jennifer Viberg Johansson suggests we keep this in mind for genetic counselling. We need to tailor counselling to people’s often binary perceptions of risk.

Communicating risk is difficult, and requires genetic counsellors to understand how different people understand the same figures in different ways.

Jennifer Viberg Johansson defended her dissertation September 21, 2018.

Anna Holm

Viberg Johansson J., (2018), INDIVIDUAL GENETIC RESEARCH RESULTS – Uncertainties, Conceptions, and Preferences, Uppsala: Acta Universitatis Upsaliensis

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