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

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Research ethics is not only protection ethics

June 6, 2016

Pär SegerdahlSystems for ethical review of research would never have been developed if it were not for the need to protect research participants from being exploited, exposed to excessive risks, or injured.

Considering how several research scandals strengthened this protection motive, it is easy to believe that protection is the sole aim of research ethics. This is not the case.

The starting point has always been that research is something worthwhile; something ethically important. Medical research provides knowledge that can lead to better diagnoses and more effective treatments. The humanities and social sciences can provide knowledge that supports more informed debates and more thoughtful political decisions.

Ethics review is about striking a balance between ethical values. Are the risks in proportion to the value of the research? Are the risks minimized, or can the research questions be examined more safely? Are research participants properly informed about the research purpose and the risks that participation might entail? Do they get the opportunity to freely decide whether to participate or not?

The “novelty” of research ethics is thus the balancing of ethical values. It’s not that ethical values are turned against research, for research itself is regarded as an ethical value. Also researchers are learning to balance values when they plan their research. The balancing is done not only in the review system, then, but pervades research itself more and more.

Doing the balancing is rarely easy. Moreover, as already mentioned, it is easy to overlook the starting point: that research is regarded as a value. This invites interpreting research ethics as pure protection ethics, which threatens to make ethics review one-sided.

For these reasons, well-written manuals are needed for members of ethical review boards, and for researchers. Manuals that not only inform about regulations and legislation, but also discuss the difficulties of balancing ethical values, and highlight how research ethics is “balance ethics” and not just protection ethics (except when protection law applies).

A new book, Balanced Ethics Review (Springer 2016), by Simon N. Whitney, is such a manual. It is written from within the American review system. But by openly discussing the difficulties of balancing ethical values, and by bringing to the fore how research ethics functions as “balance ethics,” the book has greater universality. – Perhaps precisely where the need for guidance is greatest.

Pär Segerdahl

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