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What do we know about the psychology of genetic testing?

A recent report discusses the current understanding of the psychological effects of genetic screening.

Since the inception of the Human Genome Project in 1990, there has been ceaseless controversy surrounding research into human genetics. Ethicists, psychologists, and doctors have been warning of the potential for negative consequences that may come with increased genetic knowledge.

These days, genetic testing is unlike any other medical testing procedures. Doctors are required to educate patients of the potential results, the potential uncertainty that comes with them, the choices they may require one to make, as well as the potential for psychosocial consequences. No such process of informed consent is required before a doctor orders any other type of blood test.

As genetic testing becomes more commonplace in medical settings, researchers began asking whether such precautions are truly necessary? Are humans truly susceptible to such negative psychological effects upon finding out their genetic susceptibilities? Were scientists and ethicists right in warning that genetic information can bring about such psychological detriments as depression, anxiety, stigmatization, etc.?

Current debaters are divided into two camps

To examine our current understanding of the psychology of genetic screening, a series of essays discussing the ongoing debates have been compiled in the Hastings Center Report. These essays demonstrate scientists’ somewhat conflictual standpoints regarding the psychological effects of genetic screening.

On the one end of the spectrum, the authors explain, are researchers who seem more optimistic regarding such psychological effects. Their research seems to suggest that people tend to view genetic information with less of an “essentialist” mindset. That is, they do not believe that genes are our human essence, nor is such genetic information the most crucial piece of knowledge about ourselves.

On the other side of the spectrum, are scientists who continue to see genetic essentialism as a present-day problem. Thus, their research suggests that people do retain some negative psychosocial effects from genetic testing. This overall divide, then, suggests that our understanding of the psychology of genetic screening is far from perfect. The authors nevertheless suggest that even becoming aware of the knowledge we lack, is an improvement in our understanding.

Human nature and genetic essentialism

According to the authors, some scientists believe that the way humans react psychologically depends on the way humans use genetic information. On the one hand, there are those who argue that humans will inevitably consider genetic information as a way to “simplify” our world. Thus, the resulting effects of genetic testing will inevitably lead us to consider genetics as a way to classify others, explain behaviors, or even discriminate against.

Other scientists believe that genetic information will, in fact, be used more strategically. Thus, if a person is already prone to judge or discriminate, based on some notion or other, they will use newly discovered (genetic) information to support their cause. These experts suggest that it isn’t the information, per se, that will influence psychological effects. Rather, human interpretation will influence how genetic information is accepted and used.

Uncertainty, type, measurements, and number of disorders, combine to create complexity

The authors suggest several issues that can influence whether psychological effects do indeed ensue following genetic screening. For instance, researchers determined that information about genetic predisposition for one disease, such as Alzheimer’s, would not lead to long-term affective detriments. Nevertheless, it is difficult to generalize from these results.

For one, such a test only measures one specific disorder. As genetic screening becomes more commonplace, it is likely that people will receive information about multiple potential predispositions. It is more likely that many genes will be responsible, each to a smaller degree, for multiple dispositions. Such ambiguity in the probability of developing the disease might also play a role in the resulting psychological effects. How would we respond to finding out that we have predispositions for several diseases? Will we be able to accurately react to probabilistic information? In any case, it is clear that such results can produce varying psychological effects.

Humans do not tend to be very good at calculating probabilities intuitively. The authors indeed suggest that uncertainty can lead to more serious psychological effects. For example, women who discovered that their child was predisposed to genetic variants of unknown clinical significance experienced marked anxiety.

In addition, would all predispositions affect us the same way? Would learning about a predisposition to, say, cancer, affect us the same as learning about predisposition to conditions like Autism Spectrum disorder? Would it, then, be the same as learning about our genetic likelihood for educational attainment?

Furthermore, it is not enough to measure the psychological effect as a mere increase in stress, depression, or preoccupation with the results. When given information about predisposition to Alzheimer’s disease, the participants of one study did not demonstrate any such affective problems. However, when measuring their performance on several cognitive tests, results were significantly worse than for participants who were not aware of their predisposition.

Similarly, information about predispositions to mental illnesses can lead to complex results. Researchers found that, on the one hand, such information helps reduce the blame patients experience for their mental illness. On the other hand, it was also more likely that patients would see their chances of recovery in more pessimistic terms.

Could education attenuate these effects?

Many of the researchers included in this publication have recognized the importance of properly informing people about the tests. For instance, those who were properly briefed about the meaning of genetic results experienced less psychological distress, when told of a predisposition for Alzheimer’s disease. Such education, pre- and post-test, can become even more important when measuring multiple genetic predispositions. It is also likely that, given the potential negative effects of results with unknown clinical significance, at least some will resolve not to undergo such tests.

It is thus clear that, while researchers are still far from understanding the full scope of the psychological effects of genetic screening, the informed consent process should not be abandoned. Additionally, while it seems that experts are strongly conflicted on the resulting effects of genetic information, it is important to remember that this is not due to a lack of progress. Quite the contrary, the authors note: with increased understanding often comes increased complexity.

Written by Maor Bernshtein

Reference: Parens, E., & Appelbaum, P. S. (2019). On What We Have Learned and Still Need to Learn about the Psychosocial Impacts of Genetic Testing. Hastings Center Report, 49. doi:10.1002/hast.1011

Image by Arek Socha from Pixabay

Maor Bernshtein
Maor Bernshtein
Maor is currently working on his BSc in psychology from York University in Toronto, Canada. He is interested in psychological research and likes to analyze results and apply them to everyday life. Maor has previously volunteered for The Centre for Addiction and Mental Health and is passionate about bringing psychological knowledge back to the people. He hopes that others can benefit from psychological insights through his work and improve their overall life and well-being.


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