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


Unhappy approach behind policy for incidental findings

April 24, 2013

Should individual research participants be informed if biobank researchers incidentally discover increased genetic disease risks through analysis of their samples?

At a seminar, Jennifer Viberg recently discussed a well-known recommendation for when participants should be informed about incidental findings:

During the seminar it became increasingly clear how the authors of the recommendation were proceeding. They started out from how one already handles incidental findings in a more familiar field, namely, imaging studies of the internal organs of the human body. They then generalized that policy to the less familiar case of genomic biobank research.

When researchers produce images of the internal organs of the human body they may accidentally discover, for example, tumors in individual research participants. It is obvious that participants should be contacted about such findings so that action can be taken.

The problem when one generalizes from a field with developed policy to a less familiar field, however, is the risk that false analogies govern the generalized policy. By treating imaging studies as paradigm case of individual findings, it might look as if biobank researchers produce images; images of the genome that incidentally reveal individual divergences against which action can be taken – like when a tumor is operated.

The article does not emphasize the fact that incidental findings in biobank research more typically would concern highly complex and difficult to interpret information about increased individual genetic disease risks.

If I have a tumor, it exists within my body and it can be surgically removed. But if I have an increased genetic disease risk, what do I have and in what sense can it be removed? Does “actionability” have the same meaning for diseases and for increased disease risks?

These and related questions about differences are not emphasized in the article. On the contrary, one seems to be in a hurry to generalize a familiar routine to a new field.

Transferring lessons from familiar to less familiar fields seems reasonable. If one neglects the one-way nature of the approach, however, it easily inflicts blindness to essential differences. In her dissertation work, Jennifer Viberg wants to avoid this pitfall.

Pär Segerdahl

We challenge habits of thought : the Ethics Blog


Two PhD positions at the Centre for Research Ethics and Bioethics

March 27, 2013

We are recruiting two new PhD students:

1. PhD position in the field of Research Ethics/Bioethics. This position has two possible research focuses:

2. PhD position in the field of bioethics/philosophy of mind. This position has the following possible research focuses:

  • (a) Conceptual and empirical analyses of the nature and function of consciousness in the light of modern neuroscience and philosophy of mind.
  • (b) How consciousness can be accessed neurotechnologically.
  • (c) Clinical studies of consciousness of patients with disorders of consciousness and ethical analyses of the results.

Read more about the PhD projects and the application in the links above. If you are interested we look forward to receiving your application no later than April 22, 2013.

Pär Segerdahl

We transgress disciplinary borders - the Ethics Blog


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