Genetic screening before pregnancy?

June 20, 2016

Pär SegerdahlGenetic diseases can arise in strange ways. So-called recessive diseases require that both parents have the gene for the disease. The parents can be healthy and unaware that they are carriers of the same non-dominant disease gene. In these cases, the risk that the child develops the disease is 25 percent.

In families with a history of some recessive disease, as well as in communities where some serious recessive disease is common, genetic screening before pregnancy is already used – to determine whether couples that are planning a child are, so to speak, genetically compatible.

As these genetic tests have become more reliable and affordable, one has begun to consider offering preconception genetic screening to whole populations. Since one doesn’t know then exactly which genes to look for, it’s not just about screening more people, but also about testing for more recessive traits. This approach has been termed expanded carrier screening (ECS).

In the Netherlands, a pilot project is underway, but the ethical questions are many. One concerns medicalization, the risk that people begin to think of themselves as being more or less genetically compatible with each other, and feel a demand to test themselves before they form a couple and plan children.

Sweden has not yet considered offering expanded carrier screening to the population and the ethical issues have not been discussed. Amal Matar, PhD student at CRB, decided to start investigating the issues in advance. So that we are prepared and can reason well, if preconception expanded carrier screening is suggested.

The first study in the PhD project was recently published in the Journal of Community Genetics. Interviews were made with clinicians and geneticists, as well as with a midwife and a genetic counselor, to examine how this type of genetic screening can be perceived from a Swedish health care perspective.

Ethical issues raised during the interviews included medicalization, effects on human reproductive freedom, parental responsibility, discrimination against diseased and carriers, prioritization of resources in health care, as well as uncertainties about what to test for and how to interpret results.

The study serves as an empirical exploration of the ethical issues. Some of these issues will be examined philosophically further on in Amal Matar’s project.

(Read more about Amal Matar and her work at CRB here.)

Pär Segerdahl

Matar, A., Kihlbom, U., Höglund, A.T. Swedish healthcare providers’ perceptions of preconception expanded carrier screening (ECS) – a qualitative study. Journal of Community Genetics, DOI 10.1007/s12687-016-0268-2

This post in Swedish

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Gene editing: a threat to the moral ecosystem?

January 13, 2016

Pär SegerdahlA few years ago it was discovered that bacteria can protect themselves against viruses by cutting the viruses’ DNA at specific positions. The discovery is the basis for new, easier and more precise ways to make changes in the genome. Researchers have begun to talk about “cutting and pasting” in the genome; about “editing” the genome.

The new gene-editing technique has been applied to plant breeding. But it can, of course, be applied elsewhere too. And as often is the case, the issues appear extra controversial when applications to humans are considered.

I read an intellectual debate between a proponent of therapeutic use of the technique on humans (Julian Savulescu), and an opponent (Margaret Somerville). (You find it here.) The opponent used an analogy to summarize her position, which I cannot resist commenting upon here on the Ethics Blog. Here is the analogy (as I render it):

  • Today we are acutely aware that we must take responsibility for our environment, for the physical ecosystem. But the same can be said of our metaphysical or moral ecosystem. We must care about our values, beliefs, attitudes, principles and narratives. Genetically editing a human embryo, perhaps to remove a disease gene, may have good consequences from an individual perspective. But it threatens the moral ecosystem at its roots: it contradicts the respect for human life.

Say what you want, but it is a dramatic analogy! Maybe a little too dramatic. For essentially the same threat has been depicted many times before, when new forms of biotechnology appeared on the horizon. If this kind of threat was real, morality should lie in ruins since long ago. But we quickly forget and it is always only the latest techniques that Threaten Morality at its Foundation.

I believe that the idea of ​​a major technological threat to morality is based on intellectualizing both technology and morality. One attaches enormous significance to the fact that aspects of the technology can be described with certain words, such as “editing” or “designing.” The description, ​​”designing a child,” sounds like it logically clashed with another intellectualization – of morality as a system of propositions about what a “person” is, about what “respect” is, and about what is “right and wrong.”

The idea of an apocalyptic threat is thus based on reading the new technique and morality literally, so that it sounds as if the technique contradicted the basic tenets of morality.

Is there nothing to worry about, then? Should we not care about important values? Of course we should. My point is that in practice this looks differently than it verbally sounds like.

When new biotechnologies are implemented in society and put to use, this occurs in specific practical contexts where there are recognized problems that one wants to solve or treat. These applications are regulated, ethically and legally.

In vitro fertilization (IVF), another technique, is embedded in its specific contexts. Within these contexts, the technique solves problems for people. But it hardly threatens morality by, on some general and verbal level, contradicting the basic tenets of a moral system – such as “the respect for human life.” Rather, the technology has become a new way to concretely respect people and take their problems seriously.

The practical aspects disappear in the intellectualization of the issues, with its focus on words and theses. But it is the living contexts we have to take responsibility for. That is where we find the respect and the disrespect. That is where the problem lies.

Some moral problems are just false readings, overinterpretations of words.

Pär Segerdahl

This post in Swedish

We like real-life ethics :

Openness as an ethical ritual

August 3, 2015

Pär SegerdahlBarbara A. Koenig wrote last year about how informed consent has acquired a “liturgical feel” in biomedical research ethics. Each time the protection of research participants is challenged by new forms of research, the answer is: more consent!

The procedure of informing and asking for consent may feel like assuming a priestly guise and performing an ethical ritual with the research participant.

The ritual is moreover sometimes practically impossible to implement. For example, if one is to inform participants in genetic research about incidental findings that might be made about them, so that they can decide whether they want to be re-contacted if researchers happen to discover “something” about them.

If it takes one hour to inform a patient about his or her actual genetic disease, how long would it take to inform a research participant of all possible kinds of genetic disease risks that might be discovered? Sorry, not just one participant, but hundreds of thousands.

How then can research participants be respected as humans, if informed consent has become like an empty ritual with the poor participant? (A ritual that in genetic research sometimes is impracticable.)

In the August issue of Nature, Misha Angrist suggests a solution: we treat participants as partners in the research process, by being open to them. How are we open to them? By offering them the researchers’ genetic raw data, which can be handed over to them as an electronic file.

Here we are not talking about interpreted genetic disease risks, but of heaps of genetic raw data that are utterly meaningless for research participants.

Openness often has important functions. Making scientific articles openly accessible so that everyone can read them has a function. Making researchers’ data available to other researchers so that they can critically review research, or use already collected data in new research, has a function.

But offering files with genetic raw data to research participants, what is its function? Is it really the beginning of a beautiful partnership?

Openness and partnership seem here to become yet another ethical ritual; yet another universal solution to ethical difficulties.

Pär Segerdahl

We think about bioethics :

Laboratories interpret genetic test results differently

June 15, 2015

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

Following the news - the ethics blog

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 :

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

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