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

Tag: genetic risk information (Page 1 of 2)

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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How about personally optimized treatment?

Pär SegerdahlIt is well known that patients who are asked to participate in cancer trials are tempted by the therapeutic misconception. They believe they are offered a newer and better treatment, when in fact it is about research into an untested treatment. When researchers use genetic tests to develop personalized oncology, even more misconceptions can arise. I will soon explain. But first, what is personalized cancer treatment? Here is an example.

Patients whose tumor is to be operated may undergo preparatory radiation or chemotherapy. Since the preparatory therapy has severe side effects, one wants to avoid giving it to patients whose tumors do not respond to it. The challenge is to distinguish patients who respond to treatment from patients who do not. This is to be accomplished through, among other things, genetic tests on the tumor cells. If this works, you can develop personalized cancer treatment. Patients with the “right” tumor cell genetics receive the preparatory therapy, while patients who, according to the genetic tests, only get the side effects, with no effect on tumor growth, do not receive the therapy.

What are the misconceptions that can arise in patients who are asked to participate in research on personalized cancer treatment? Here are some examples.

Patients who are told that the researchers will do genetic tests can feel a genetic responsibility to participate, considering their children and grandchildren. They believe the test results may be relevant to close relatives, who may have the same disease genes. However, the tests are done on mutated tumor cells and therefore say nothing about inherited cancer risk. A sense of genetic responsibility can thus be triggered by the word “genetics” and create a genetic misconception of research in personalized oncology.

Other misconceptions have to do with the positive language used to describe personalized medicine. One talks about personally “optimized” treatments, about “tailored” treatments, about treatments that are adapted “to the individual.” This language use is not intended to mislead, but it is easy to see how words such as “optimization” can cause patients to believe that research participation means special treatment benefit.

The biggest challenge is perhaps to explain the research purpose behind the positive language. The aim is to be able in the future to distinguish between patients, to “stratify” them, as it less positively is called. Personally optimized care actually means that some patients do not receive certain treatments. This is, of course, reasonable if genetic tests can show that they have no benefit from the treatments but only get the side effects. However, what do cancer patients themselves say about stratified cancer treatment, where some patients are identified as non-responders and therefore are not offered the same treatment as other patients? Finally, do participants understand that “tailored treatment” is a future goal of the study and not something they are offered to try?

Communication with patients recruited for studies in personalized oncology faces many challenges, as patients are tempted by even more misconceptions than just the well-known therapeutic misconception.

Do you want to know more? Read the German study that inspired this blog post.

Pär Segerdahl

Perry, J., Wöhlke, S., Heßling, A.C., Schicktanz, S. 2017. Why take part in personalised cancer research? Patients’ genetic misconception, genetic responsibility and incomprehension of stratification—an empirical‐ethical examination. Eur J Cancer Care. https://doi.org/10.1111/ecc.12563

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Genetic risk information: lines and stage directions

Pär SegerdahlOutside of their practical contexts, simple messages quickly lose their meaning. Recall what it is like to find an old Post-it Note: “Don’t forget the disk!” – What disk? The risk is great that we invent a context. Incomprehensible messages awaken our imagination.

Similarly, messages about genetic risk need practical contexts that make the information meaningful and prevent nightmarish imaginations. The information needs to become part of a larger drama. Otherwise, we begin to fantasize: “Greatly increased risk of breast cancer.” – What do they mean, “greatly increased”? What do they mean, “breast cancer”? What do they mean, “risk”?

The difficulty of understanding and benefitting from genetic risk information is probably partly due to lack of context. The potential for generating risk information is growing rapidly. All this information is waiting for its dramas: contexts where people can ask concrete questions and get practical advice. Educational methods for explaining percentages cannot replace the loss of context. People who get genetic risk information need to know more about the disease they are at risk of developing. They may want to know if they should notify the employer of the risk. They may want to know if something can be done to reduce the risk. They may want to know what it is like to live with the disease, or with the risk of getting it. How is the family affected? Can you work having the disease? Should one worry or is it reasonable to hope that one will not get the disease? And so on.

In short, well-functioning genetic risk information has two dimensions. First, an individual dimension: “You have a greatly increased risk of…” Secondly, a general dimension: Practical instructions on a wide variety of issues that people need to know more about, and about which they otherwise begin to fantasize.

To speak the language of the theater: The individual dimension (the simple risk message) is the lines. The general dimension is the stage directions. Genetic risk information consists of both lines and stage directions.

When we discuss whether genetic risk information empowers people to influence their future health or just worries them, when we discuss the difficulty of understanding risk information, we should be clearly aware of these two dimensions of the information. Are we discussing the lines or the stage directions? Or are we discussing the lines together with the stage directions?

Which dimension of genetic risk information is most relevant to the individual? Perhaps the lines are merely a reason for moving on to the stage directions. The dramatic risk lines may speak mainly to the healthcare staff, while the individual above all needs the stage directions.

One could not work at a theater without distinguishing between lines and stage directions. Perhaps something similar applies to genetic risk information.

Pär Segerdahl

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Genetic risk entails genetic responsibility

Pär SegerdahlIntellectual optimists have seen genetic risk information as a human victory over nature. The information gives us power over our future health. What previously would have been our fate, genetics now transforms into matters of personal choice.

Reality, however, is not as rosy as in this dream of intellectual power over life. Where there is risk there is responsibility, Silke Schicktanz writes in an article on genetic risk and responsibility. This is probably how people experience genetic risk information when they face it. Genetic risk gives us new forms of responsibility, rather than liberates us from nature.

Silke Schicktanz describes how responsibility emerges in situations where genetic risk is investigated, communicated and managed. The analysis exceeds what I can reproduce in a short blog post. However, I can give the reader a sense of how genetic risk information entails a broad spectrum of responsibilities. Sometimes in the individual who receives the information. Sometimes in the professional who provides the information. Sometimes in the family affected by the information. The examples are versions of the cases discussed in the article:

Suppose you have become strangely forgetful. You do a genetic test to determine if you have a gene associated with Alzheimer’s disease. You have the gene! The test result immediately makes you responsible for yourself. What can you do to delay or alleviate the disease? What practical measures can be taken at home to help you live with the disease? You can also feel responsibility for your family. Have you transferred the gene to your children and grandchildren? Should you urge them to test themselves? What can they do to protect themselves? The professional who administered the test also becomes responsible. Should she tell you that the validity of the test is low? Maybe you should not have been burdened with such a worrying test result, when the validity so low?

Suppose you have rectum-colon cancer. The surgeon offers you to participate in a research study in which a genetic test of the tumor cells will allow individualized treatment. Here, the surgeon becomes responsible for explaining research in personalized medicine, which is not easy. There is also the responsibility of not presenting your participation in the study as an optimization of your treatment. You yourself may feel a responsibility to participate in research, as patients have done in the past. They contributed to the care you receive today. Now you can contribute to the use genetic information in future cancer care. Moreover, the surgeon may have a responsibility to counteract a possible misunderstanding of the genetic test. You can easily believe that the test says something about disease genes that you may have passed on, and that the information should be relevant to your children. However, the test concerns mutations in the cancer cells. The test provides information only about the tumor.

Suppose you have an unusual neurological disorder. A geneticist informs you that you have a gene sequence that may be the cause of the disease. Here we can easily imagine that you feel responsibility for your family and children. Your 14-year-old son has started to show symptoms, but your 16-year-old daughter is healthy. Should she do a genetic test? You discuss the matter with your ex-partner. You explain how you found the genetic information helpful: you worry less, you have started going on regular check-ups and you have taken preventive measures. Together, you decide to tell your daughter about your test results, so that she can decide for herself if she wants to test herself.

These three examples are sufficient to illustrate how genetic risk entails genetic responsibility. How wonderful it would have been if the information simply allowed us to triumph over nature, without this burdensome genetic responsibility! A pessimist could object that the responsibility becomes overpowering instead of empowering. We must surrender to the course of nature; we cannot control everything but must accept our fate.

Neither optimists nor pessimists tend to be realistic. The article by Silke Schicktanz can help us look more realistically at the responsibilities entailed by genetic risk information.

Pär Segerdahl

Schicktanz, S. 2018. Genetic risk and responsibility: reflections on a complex relationship. Journal of Risk Research 21(2): 236-258

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Thesis on reproductive ethics

Pär SegerdahlOn Thursday, February 28, Amal Matar defends her thesis in the field of reproductive ethics.

As genetic tests become cheaper and more reliable, the potential use of genetic tests also expands. One use could be offering preconception genetic screening to entire populations. Prospective parents could find out if they are carriers of the same recessive autosomal genetic condition, and could plan future pregnancies. Carriers of such genetic conditions can be healthy, but if both parents have the same predisposition, the risk is 25 percent that their child will have the disease.

Preconception genetic screening is not implemented in Sweden. Would it be possible to do so in the future? What would the ethical and social implications be? Is it likely that preconception genetic screening will be implemented in Sweden? These are some of the questions that Amal Matar examines in her thesis.

Amal Matar’s interviews with Swedish healthcare professionals and policymaking experts indicate that preconception genetic screening will not be implemented in Sweden. The interviewees expressed the opinion that such screening would not satisfy any medical need, would threaten important values ​​in Swedish society and in the healthcare system, and require excessive resources.

Amal Matar defends her thesis in the Uppsala University Main Building (Biskopsgatan 3), room IV, on Thursday, February 28 at 13:00. You find an earlier interview with Amal Matar here. If you want to read the thesis, you find a link below.

Pär Segerdahl

Matar, Amal. 2019. Considering a Baby? Responsible Screening for the Future. Uppsala: Acta Universitatis Upsaliensis

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Why do we pay for genetic information that we do not use?

Pär SegerdahlAbout half a million people around the world have purchased direct-to-consumer genetic tests. A large majority say that they are willing to pay for the genetic information, even if the results do not reveal anything of clinical value. If so, why do they want to buy genetic information about themselves?

Many say they want health-relevant information. One can guess that they want information that helps them to live healthier: How should a person with my genes eat and exercise? However, the test results do not seem to motivate any changed behavior. Thus, people pay for genetic information, but they do not use it.

Alessandra Gorini and Gabriella Pravettoni reflect on the psychology behind consumers’ seemingly strange behavior. What makes so many buy genetic information that they will not use? In addition to the difficulty of understanding statistical information, they suggest that consumers may want to signal to themselves that everything is fine. People are generally optimists when it comes to risk. Most people think that they themselves are at less risk than others are to suffer from disease or other adverse events. Most also have a tendency to interpret information as confirming what they already believe.

What consumers of genetic tests pay for, then, is a positive signal to themselves. When they read the test results, optimistic and self-confirming cognitive processes are immediately activated: Look, I’m safe!

Gorini and Pravettoni argue that this self-signaling consumption of genetic information is problematic. The information is not used effectively. What can we do about it?

Rather than regulating the market of direct-to-consumer genetic tests, the authors propose that we should increase consumers’ knowledge and awareness, to help them use genetic information more effectively. However, if consumers are satisfied with the positive signal they sought and bought, are they motivated to acquire knowledge that can interfere with the signal?

Pär Segerdahl

Alessandra Gorini and Gabriella Pravettoni. 2016. Why do we pay for information that we won’t use? A cognitive-based explanation for genetic information seeking. European Journal of Human Genetics 24: 625. doi:10.1038/ejhg.2015.188

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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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Communicating risk in human terms

Pär SegerdahlThe concept of risk used in genetics is a technical term. For the specialist, risk is the probability of an undesired event, for example, that an individual develops some form of cancer. Risk is usually stated as a percentage.

It is well known that patients have difficulties to access the probability notion of risk. What do their difficulties mean?

Technical notions, which experts use in their specialist fields, usually have high status. The attitude is: this is what risk really is. Based on such an attitude, people’s difficulties mean: they have difficulties to understand risk. Therefore, we have to help them understand, by using educational tools that explain to them what we mean (we who know what risk is).

We could speak of communicating risk in the experts’ terms (and on their terms). Of course, one tries to communicate risk as simply and accessibly as possible. However, the notion of ​​what to communicate is fixed. Anything else would disturb the attitude that the expert knows what risk really is.

In an article in Patient Education and Counseling, Jennifer Viberg Johansson (along with Pär Segerdahl, Ulrika Hösterey Ugander, Mats G. Hansson and Sophie Langenskiöld) makes an inquiry that departs from this pattern. She explores how people themselves make sense of genetic risk.

How does Viberg’s study depart from the pattern? She does not use the technical notion of risk as the norm for understanding risk.

Viberg interviewed healthy participants in a large research project. She found that they avoided the technical, probability notion of genetic risk. Instead, they used a binary concept of risk. Genetic risk (e.g., for breast cancer) is something that you have or do not have.

Furthermore, they interpreted risk in three ways in terms of time. Past: The risk has been in my genome for a long time. When symptoms arise, the genetic risk is the cause of the disease. Present: The risk is in my genome now, making me a person who is at risk. Future: The risk will be in my genome my entire life, but maybe I can control it through preventive measures.

These temporal dimensions are not surprising. People try to understand risk in the midst of their lives, which evolve in time.

It is not the case, then, that people “fail” to understand. They do understand, but in their own terms. They think of genetic risk as something that one has or does not have. They understand genetic risk in terms of how life evolves in time. A practical conclusion that Viberg draws is that we should try to adapt genetic risk communication to these “lay” conceptions of risk, which probably help people make difficult decisions.

We could speak of communicating risk in human terms (and on human terms). What does genetic risk mean in terms of someone’s past, present and future life?

When you talk with people with lives to live, that is probably what the risk really is.

Pär Segerdahl

J. Viberg Johansson, et al., Making sense of genetic risk: A qualitative focus-group study of healthy participants in genomic research, Patient Educ Couns (2017), http://dx.doi.org/10.1016/j.pec.2017.09.009

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What is the risk?

Pär SegerdahlTo communicate about genetic risk with patients, we need to know how people think about risk and that experts and people in general often think differently.

A common feature, however, is this: Risk has to do with future adverse events. We talk about the risk of getting sick. But we rarely talk about the risk of getting well. We must then imagine people who value their disease (perhaps to avoid enrollment in an occupation army).

The expert’s concept of risk presupposes the negative value, but does not delve into it. It focuses on the probability that the unwanted event will happen (and how certain/uncertain the probability is).

For patients, however, the value aspect probably is more in focus. A couple learning about a 25% risk of having a child with a certain disability probably considers how bad such impairment would be: for the child and themselves. Maybe it isn’t so bad? Perhaps there is no great “risk” at all! They evaluate the risk scenario rather than calculate the probability.

How can we understand this value aspect, which risk presupposes and patients ponder? Ulrik Kihlbom at CRB asks the question in an article in the Journal of Risk Research.

Kihlbom describes two common ways of understanding value. The first is in terms of preferences. People have different preferences. Most prefer health before sickness, but occasionally someone may prefer disease. Value lies in satisfying these preferences, whatever they are. There is then only one value: preference satisfaction. The problem is that we can object that these preferences are not always reasonable or well informed. Additionally, patients can adapt to their illness and prefer their lives as much as healthy persons prefer their lives. Is it valuable to satisfy even such preferences?

Not surprisingly, the other way of understanding value is more objective. Here one assumes that value depends on how well certain basic human capabilities are supported. Such as being able to use one’s senses, imagine, think, play, be healthy, etc. Here there is a more objective measure of value. The problem is the authority the measure is given. May not a person lack some of these capabilities and still live a full and dignified life? Who decides which capabilities should belong to the measure?

Actually, I would say that both proposals impose a measure of value. Preference satisfaction is, of course, a general measure too.

Kihlbom proposes a third way of understanding value. No measure of value is imposed and value is not separated from that which has value. If someone gets cancer, the negative value lies already in the disease, so to speak. A person who knows what cancer is does not ask: “Why is it bad to get cancer?” And hardly anybody would answer: “Because it frustrates my preferences” or “Because it prevents me from flourishing as a human being.”

Knowing what disease is means knowing that it is bad. It is part of the point of the word. To exclaim, “I’m so sick!” is to complain (not to rejoice). The value lies in the phenomenon itself and in the word. If some people still value their disease (perhaps to avoid military service), the value lies in the situation where the disease can appear as a good thing.

This is probably how people approach genetic risk information: What does this mean in my life? How bad is it? They immerse themselves in the value aspect, which the numerical probability presupposes. The 25-percent risk of having a child with a certain disability leads to concerns over what such a life might turn out to be like; how it can be described; how it can be valued.

So what should we keep in mind in genetic risk communication? The novelty about genetic risk information is not only that patients get difficult to interpret percentages of probability. The scenarios are new. These scenarios can involve time perspectives that extend throughout one’s future life, even to future generations. They can be about diseases and treatments that we do not know what it means to live with.

We evaluate risks daily (like the risk of missing the train), but here patients encounter novel risk scenarios that are difficult to evaluate. If I understand Kihlbom right, he thinks that the challenge is not only to explain probabilities to patients. The challenge is not least that of talking with patients about these new risk scenarios: about how they react to them in terms of value, how they describe them as “catastrophic” or “not so bad.”

Patients need support to evaluate genetic risk scenarios reasonably; not only to understand probabilities.

Pär Segerdahl

Kihlbom, U. 2016. “Genetic Risk and Value.” Journal of Risk Research, DOI: 10.1080 / 13669877.2016.1200653

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Laboratories interpret genetic test results differently

Pär SegerdahlA new study suggests that the results of genetic tests are not always as reliable as we want to believe. A comparison between laboratories providing these tests shows that the same genetic variant can be interpreted differently.

A single gene variant can thus be interpreted as an increased risk of breast cancer by one laboratory, but as no increased risk by another.

Given that the results of genetic tests can motivate a person to undergo, or not undergo, preventive surgery, this is quite alarming.

Genetic risks are not literally written in our genes. They require interpreting the significance of different genetic variants. The interpretation requires research that can show whether the variant is associated with increased risk of disease or not.

Most variants cannot be interpreted at all. Many are so rare that there is no data to even begin interpreting their meaning.

If I understand correctly, interpretations differ partly because laboratories do not always share their data. Their interpretations are based on limited studies using their own data. Such studies may point in different directions.

In addition to emphasizing the importance of open data, all this shows that we cannot take genetic tests or effective healthcare for granted. They require ongoing research work with large amounts of data.

We easily neglect this: how research continuously underpins healthcare.

But even with better interpretations of genetic tests, it will be difficult to interpret what the results mean for the individual.

Genetic risk continues to be a complex concept.

Pär Segerdahl

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