Letting people choose isn’t always the same as respecting them

May 5, 2015

Jennifer Viberg, PhD Student, Centre for Research Ethics & Bioethics (CRB)Sequencing the entire genome is cheaper and faster than ever. But when researchers look at people’s genetic code, they also find unexpected information in the process. Shouldn’t research participants have access to this incidental information? Especially if it is important information that could save a life if there is treatment to offer?

The personal benefits of knowing genetic information can vary from individual to individual. For one person, knowledge might just cause anxiety. For another, genetic risk information could create a sense of control in life. Since different people have different experiences, it could seem tempting to leave it for them to decide for themselves whether they want the information or not.

Offering participants in genetic research a choice to know or not to know is becoming more common. Another reason for giving a “freedom of choice” has to do with respecting people by allowing them to make choices in matters that concern them. By letting the participant choose, you acknowledge that he or she is a person with an ability to make his or her own choices.

But when researchers hand over the decision to participants they also transfer responsibility: A responsibility that could have consequences that we cannot determine today. I recently wrote an article together with colleagues at CRB about this in Bioethics. We argue that this freedom of choice could be problematic.

Looking at previous psychological research on how people respond to probabilities, it becomes clear that what they choose depends on how the choice situation is presented. People choose the “safe” outcome before taking a risk in cases where the outcome is phrased in a positive way. But they are more prone to taking a risk when the result is phrased in a negative way, despite the fact that the outcome is identical. If a participant is asked if he or she wants information that could save their life, there is a risk that they could be steered to answering “yes” without considering other important aspects, such as having to live with anxiety or subjecting themselves to medical procedures that might be unnecessary.

The benefit of incidental findings for individual participants is hard to estimate. Even for experienced and knowledgeable genetic researchers. If we know how difficult the choice situations are, even for them, and if we know how psychological processes probably will steer the participants’ choices, then it seems that it is hardly respectful to give the participants this choice.

There are good intentions behind giving participants freedom to choose, but it isn’t respectful if we can predict that the choices won’t be free and well grounded.

If you want to learn more, you find further reading on CRB’s web, and here is a link to our article: Freedom of choice about incidental findings can frustrate participants’ true preferences

Jennifer Viberg

We like real-life ethics : www.ethicsblog.crb.uu.se


How do people live with genetic risk?

December 3, 2014

PÄR SEGERDAHL Associate Professor of Philosophy and editor of The Ethics BlogFor the doctor, the patient’s disease is a virus infection, a non-functioning kidney, a mutation. The disease is a disorder within the patient’s body.

But for the patient, the disease is not least a disorder of his or her life and of how the body functions in daily life. The disease disrupts the patient’s plans and direction of life. This can be experienced with grief as a loss of what was “one’s life.”

The concept of disease is ambiguous. It has one meaning in medicine; another in the patient’s own life and experience. Also the diseased body is ambiguous. The doctor’s conception of the patient’s bodily disorder is something else than the patient’s experience of the disorder of the body.

At one of our seminars, Serena Oliveri (see below) discussed how people experience genetic risk of disease.

Also genetic risk is ambiguous I believe Oliveri wants to say. Genetic risk has one meaning in genetics (hard to grasp even for geneticists and physicians). But what happens in people’s own lives when they get to know the risk? How does one live with the risk of developing breast cancer or Alzheimer’s disease in the future? How does one live as “someone who is at risk?”

Oliveri indicates that the challenge here isn’t only that of informing people in more comprehensible ways. No matter how well the doctor explains the disease or the genetic risk to the patient, disease and genetic risk continue to be ambiguous. Disease and genetic risk continue to have different meanings in the medical setting and in people’s own lives.

The ambiguity is inevitable. For we do not cease to live and to experience life just because some medical or genetic issue was explained to us in very comprehensible ways. So how does life change when it becomes a life with genetic risk? That question needs to be investigated.

The ambiguity is a responsibility. Today, it is becoming increasingly easy and cheap to provide people with genetic risk information. You can even buy your own genetic test online! That aspect of genetics develops more rapidly today than the methods of treating or giving advice to people at risk.

Through genetic tests, then, it has become very easy to create people who “live at risk” without us really knowing yet what it means in those people’s lives. And without us really knowing yet what they should do with the risk in the form of treatments or changes in lifestyle.

We are dealing with ambiguous concepts, Oliveri points out, and therefore we face double challenges.

Pär Segerdahl

  • Serena Oliveri, PhD, is a Post-Doc researcher in Cognitive Psychology and Decision-Making processes at the University of Milan and a member of the Applied Research Unit for Cognitive and Psychological Science at the European Institute of Oncology (IEO). Her research interests focus on medical decision making, risk analysis related to genetic information, effects on cognitive functions of cancer treatments and cognitive enhancement. She is author of several scientific papers published on indexed peer-reviewed international journals. She participates in the project “Mind the risk” at CRB, which among other issues investigated the questions in this post.

In dialogue with patients


Direct to consumer genetic tests: soon history?

November 5, 2014

PÄR SEGERDAHL Associate Professor of Philosophy and editor of The Ethics BlogMore and more companies are selling genetic tests directly to consumers. You don’t need a prescription. Just go online and order a test and you’ll get a cotton swab with which you scrape the inside of your cheek.

You then send the cotton swab to a laboratory and await the answer: What do your genes have to say about your disease risks?

These tests may seem harmless. It’s only a bit of information. No one can be harmed by some information, it may seem.

But the information is sensitive and can have consequences. For example, the test can provide information about genetic predispositions that you can transfer to your children. Paternity can be determined. You can get information that you are at risk for a certain form of cancer or can suffer side effects from the drug that your doctor prescribed. In addition, information about risk of disease can cause you to begin to exhibit symptoms prematurely!

Are the tests reliable? How should the information be interpreted in your case? What should you do with it? – Can one really market such tests directly to consumers as any commercial product?

No, it looks like it soon will be impossible. The US Food and Drug Administration (FDA) recently informed a number of companies that sell genetic tests directly to consumers that the tests will from now on be treated as medical devices. Such devices must meet specific quality requirements and be approved product by product.

Also in Europe a change is underway, going even further. The European Parliament is proposing a regulation that would more or less ban selling genetic tests directly to consumers.

This EU proposal is described and discussed in an article in Science, written by Louiza Kalokairinou, Heidi Howard (from CRB) and Pascal Borry:

From having been regarded as harmless, the authors write, genetic tests are now proposed to be classified as medical devices on risk level C (on a scale from A to D). In addition, a medical prescription will be required to get a genetic test, and the test must be ordered by a physician. Genetic counseling must also be given.

Genetic tests are here to stay, but presumably in a different context than today. The proposed EU regulation requires a medical context for genetic testing, the authors write: a patient-doctor relationship.

The article ends asking: Will doctors’ waiting rooms soon to be filled by people who want prescriptions for genetic tests? Can doctors keep up with the rapid development of the field, which is required to interpret new genetic tests and assess how these can benefit individual users?

Whereupon I ask: If it is unclear if even doctors can manage the genetic tests, how could one have assumed that individual consumers could do it?

Pär Segerdahl

Approaching future issues - the Ethics Blog


Genetic compatibility as a new dimension of partnership?

April 9, 2014

JULIA INTHORN is associated researcher and working on genetic risk information and pre-conceptional genetic screeningPreconception genetic carrier tests can inform a person if he/she is carrier of a recessive disease. In case the partner is also a carrier of the same disease, the couple has an increased risk (usually a 1 in 4 risk) to have a child with this disease. Current research in genetics works on developing tests for up to 600 of such recessive inherited diseases. Couples can use this test when planning a pregnancy and check if they are both carriers of the same disease.

In case a couple who are both carriers wants to rule out the risk of having an affected child they have different options: Medical options range from using IVF and preimplantation genetic tests to prenatal test (and the option of abortion in case the child is affected) to using donor gametes. Non-medical options are refraining from having children, adopting children or changing partner.

Preconception genetic carrier screening adds a new dimension to the question of family planning and partnership. In the rhetoric about partnerships – in online tests, horoscopes and questionnaires of online dating services – compatibility of partners is already a great issue connected to questions like matching in taste and interests but also similarity of background.

Genetic (in)compatibility is a new hitherto undiscussed aspect of partnership and marriage. While the idea of testing the genetic compatibility of partners might seem very unromantic to some the question of raising a seriously ill child together poses some important questions: questions of how partners imagine to be parents together, how they envision responsibility for a child and what kind of medical and non medical measures they think are acceptable.

Thinking about integrating genetic information into our concepts of family will challenge our ideas of responsible parenthood. We need not only to make decisions carefully but also to understand how decisions influence possible future plans: Building on a partnership irrespective of genetics leads to other questions and options in family planning than checking genetic compatibility during dating.

Discussions about integrating new genetic information into our concepts of family planning should address what options are most important and how to open up rooms of choices.

Julia Inthorn

Approaching future issues - the Ethics Blog


The risk with knowing the risk

March 5, 2014

PÄR SEGERDAHL Associate Professor of Philosophy and editor of The Ethics BlogInforming individuals about their genetic risks of disease can be viewed as empowering them to make autonomous decisions about their future health.

But we respond to risk information not only as rational decision makers, but also with our bodies, feelings and attitudes.

An American study investigated elderly people whose genetic test results showed a predisposition for Alzheimer’s disease. One group was informed about the risk; the other group was not.

In subsequent memory tests, those who were informed about the risk performed markedly worse than those who weren’t informed.

Knowing the genetic risk thus increased the risk of a false positive diagnosis of dementia. The informed participants performed as if they already were on the verge of developing Alzheimer’s.

The risk with knowing the risk is thus a further complication to take into consideration when discussing biobank researchers’ obligation to return incidental genetic findings to individual participants.

Returning information about genetic risks cannot be viewed only as empowering participants, or as giving them valuable information in exchange for contributing to research.

It can also make people worse, it can distort research results, and it can lead to false diagnoses in clinical care.

Pär Segerdahl

We like challenging findings - The ethics blog


Direct-to-consumer genetic testing: empowering people to hurt themselves?

December 4, 2013

There are two tempting pictures of the human. One is that we (ideally) are autonomous individuals who make rational choices on the basis of information. The other picture is that our individuality is coded in our DNA.

These pictures work in tandem in the marketing of direct-to-consumer genetic testing. The website of the personal genomics company, 23andMe, features their DNA “spit kit.” On the half-open lid you can read: Welcome to you.

That’s the DNA picture: Your DNA contains the information about you. For 99 dollars and a saliva sample you’ll get to know who you are.

If you click Order now, you encounter the other picture: Knowledge is power. By buying this product, you’ll be empowered to better manage your health and wellness. You’ll get information about diseases you risk developing and diseases you are less likely developing, and can plan your life accordingly.

That’s the autonomy picture: You are the driver of your life. For 99 dollars and a saliva sample, you are empowered as rational decision-maker about your health.

The combination of the two pictures is a powerful marketing campaign that can be followed on YouTube.

The US Food and Drug Administration (FDA) recently sent a warning letter to 23andMe, urging them to immediately stop marketing the test. The device isn’t just any commercial product, but is to be seen as medical technology. This implies certain quality standards:

  • “…we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses…”

FDA also expresses concern about public health consequences if the test doesn’t work reliably. A false positive risk assessment for breast or ovarian cancer “could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.”

Another concern is that patients who receive assessments of their personal drug responses may begin to self-manage their doses or abandon their therapies.

Genetic tests will no doubt play significant roles in the future. But genetic risk information is tremendously complex and its predictive value difficult to assess. The danger is that the deceptively simple marketing rhetoric of empowering individuals to take charge of their lives currently rather might empower people to hurt themselves.

The Swedish Foundation for Humanities and Social Sciences decided this autumn to support a joint European research program on genetic risk information. The program is led by Mats G. Hansson at CRB. Click the link below for a summary of the program:

FDA’s warning letter to 23andMe underlines the timeliness of the new program. More on this in the future!

Pär Segerdahl

Following the news - the ethics blog


Idling biobank policy?

October 9, 2013

If you allow researchers to do brain imaging on you for some research purpose, and they incidentally discover a tumor, or a blood vessel with thin walls, you probably want them to inform you about this finding. There are no doubts about the finding; the risks are well-known; it is actionable.

Suppose instead that you donate a blood sample to a biobank. Suppose that researchers studying the sample discover a genetic variant that, depending on a number of interacting factors, might result in disease in three years’ time, or in thirty years, or not at all. It is difficult to predict! Do you still want to know?

How should these incidental findings be handled that increasingly often will be made in genetic biobank research? We are all different, so finding variants with some statistical relation to disease is more or less expected.

A common approach to this question within attempts to develop a policy for incidental biobank findings is to formulate general conditions for when researchers should inform participants. Like: if the finding is analytically valid; if it has clinical significance; if it is actionable – then participants should be informed.

The problem is: we already knew that. We know what these conditions mean in imaging studies when a tumor or a damaged blood vessel is discovered. In these cases, the conditions can be assessed and they make it reasonable to inform. But what about genetic risk information, which often is more multidimensional and has unclear predictive value?

This question is discussed in a recent article in the European Journal of Human Genetics, written by Jennifer Viberg together with Mats G. Hansson, Sophie Langenskiöld, and me:

Viberg argues when we enter this new and more complex domain, we cannot rely on analogies to what is already known in a simpler domain. Nor can we rely on surveys of participants’ preferences, if these surveys employ the same analogies and describe the findings in terms of the same general conditions.

Time is not yet ripe for a policy for incidental genetic findings, Viberg and colleagues conclude. Formulating a policy through analogies to what is already known is to cover up what we do not know. The issue requires a different form of elucidation.

That form of elucidation remains to be developed.

Pär Segerdahl

We participate in debates - the Ethics Blog


%d bloggers like this: