Does genetic testing affect psychosocial health?

Ever since the Human Genome Project, 25 years ago, scientists have argued whether making genetic information available to patients does them good or harm. A recent report from the Hastings Center brings out evidence for the first time that knowing about one’s increased genetic risk for diseases such as obesity, cancer and Alzheimer’s can actually alter one’s functioning negatively.

This is a significant piece of learning about the social and ethical implications of genetic testing information. While earlier researchers in this field have suggested it increases anxiety, puts social pressure on the patient, strains social relationships, and induces depression, others deny these associations. The ethical, legal and social implications of such testing are thus a matter of continuing debate, consuming much time and energy.

Image Credit: Dusan Petkovic / Shutterstock
Image Credit: Dusan Petkovic / Shutterstock

With many new and powerful genetic testing tools being released to meet the growing demand for genomic information, this question is becoming increasingly relevant. From babies whose prenatal ultrasound show unexpected findings, to cancer patients who are candidates for gene-based therapy, routine genomic screening is well on the way to being perceived as an inevitable part of health care in the not-so-distant future. In fact, many scientists want to think of genetic testing as just one of many medical tests, without the need for an informed consent beforehand.

The question is therefore, how does genetic testing affect people mentally, emotionally and socially? The simple reply is, we don’t yet know enough to provide a readymade answer.

The current report considers how much genetic testing has widened since its early days, and evidence-based outcomes of making this information available to patients. It also explores some factors that affect the impact of this type of knowledge.

The report comes from a 2018 conference at Columbia University, named “Looking for the Psychosocial Impacts of Genetic Information,” and looks at three aspects of genetic testing: its historical background, evidence for lack of harm to psychosocial health from genetic testing, and evidence that supports the need for more research into such harms.

The first section describes how humans deal with the knowledge of their genetic makeup. One such mindset is described as genetic essentialism – believing that we are the result of deep, hidden, internal genetic interactions, rather than active agents in our own destinies. This promotes discrimination, and reduces the understanding of the even greater importance of other factors in human behavior. Strategic essentialism is another way humans deal with such information, twisting genetic data to suit one’s preformed agenda.

In the second section, author Scott Roberts discusses findings from a study on ApoE gene testing, a risk marker for Alzheimer’s disease. He points out that people who knew they had tested positive for the gene did not show elevated signs of depression or anxiety, and any harm was transient and mild. However, he says, the testing involved only one gene whose effects were well known, and this group was carefully prepared by pretest counseling and education. This means that the observation is not a generalizable conclusion to other populations. We still don’t know how other groups would handle this knowledge, especially those who don’t seek such information, and if the consequences of the ‘abnormal’ gene are not clearly known.

Moreover, Roberts notes that people who knew they tested positive for the ApoE gene did more poorly on memory tests. This is a negative impact on quality of life and functioning, though not as obvious as anxiety or depression. The point the author makes is that straightforward objective testing and statistical analysis are not enough to investigate the real, more subtle and subjective effects of genetic testing in a varied population.

The third section considers evidence of negative impacts of genetic testing in some groups. For instance, a pregnant woman may be told that the baby has some genetic variations but their significance is unknown as of now. In this situation, many mothers developed anxiety about the child which continued even after birth, and even when the child showed no signs of illness. This affects the parenting styles and the life outcomes of the child, and forces overuse of medical care facilities and school resources.

Some factors that influence the effect of the genetic testing data on the recipient include:

  • the type and objective of the test; to diagnose a symptomatic illness, predict risk of future illness, help prevent or treat disease, or for early abortions of ‘defective’ children.
  • the number of conditions tested for and the type of illnesses or traits, whether fatal or mild
  • the reliability of prediction based on the test results
  • ethical factors such as the testing of fetuses or children who cannot consent on their own behalf, and public screening vs selective family or individual screening
  • the type of impact measured, whether overt or more subtle, objective or subjective, and immediate or long-term measures, and the measurement techniques

Overall, the report says, single gene testing seems not to have produced significantly poor outcomes on the psychosocial health of individuals who wanted to know this information. On the other hand, the authors caution, this is not necessarily true about people who come to know about more general genetic test results, or who have not requested such testing. The negative impacts in this group could be much higher. As author, Matthew Lebowitz, puts it, “Pronouncements about the supposed failure to find negative psychosocial effects of personalized genetic health information seem premature.”

The authors sum it up: “It is surely not the case that, because we see few negative psychosocial impacts in people who choose testing for informational purposes, we should expect to see equally few negative impacts among all people.’ The bottom line is that, as Parens and Appelbaum say, “we have an extraordinary amount more to learn about the psychosocial implications of sharing genetic information.”

Journal references:
Dr. Liji Thomas

Written by

Dr. Liji Thomas

Dr. Liji Thomas is an OB-GYN, who graduated from the Government Medical College, University of Calicut, Kerala, in 2001. Liji practiced as a full-time consultant in obstetrics/gynecology in a private hospital for a few years following her graduation. She has counseled hundreds of patients facing issues from pregnancy-related problems and infertility, and has been in charge of over 2,000 deliveries, striving always to achieve a normal delivery rather than operative.


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The opinions expressed here are the views of the writer and do not necessarily reflect the views and opinions of News Medical.
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