Genetic risk: Should researchers let people know?

September 24, 2018, Uppsala University
Credit: CC0 Public Domain

Should researchers inform research participants, if they discover genetic disease risks in the participants? Yes, many would say, if the information is helpful to the participants. However, the value of complex genetic risk information for individuals is uncertain. In a Ph.D. thesis from Uppsala University, Jennifer Viberg Johansson suggests that this uncertainty needs to be acknowledged by both geneticists and ethicists.

One of the reasons people participate in large genetic studies is the comprehensive health check that researchers often include to collect data. These studies inform participants about their blood pressure, lung function and the results of different blood tests. In the future, people could also be offered information about genetic risks. Jennifer Viberg Johansson's Ph.D. thesis explores factors that researchers should consider before offering these kinds of results.

According to Jennifer Viberg Johansson, providing information may not be as helpful to individuals as one may think. Knowing your genetic make-up is not the same as knowing your own probability for disease. In addition, the kind of genetic information you would get when participating in research is less "personalised" than results from a genetic test you would do in a hospital to confirm suspicions that you might be at risk, or have a genetic disorder. Instead, you are given results that are not connected to any symptoms.

Genetic risk information is complex and can be difficult to understand. Jennifer Viberg Johansson has studied how participants in the Swedish population study, SCAPIS, understand genetic risk information, and what kind of information they would like to receive. It turns out that participants think of genetic risk as something that could explain who they are, or where they are from, but also as affecting their future life. To them, learning about genetic risk represents an opportunity to plan their lives and take appropriate precautions to prevent disease.

Answering whether research participants want genetic risk information or not is more complex. Jennifer Viberg Johansson found that people's willingness to receive genetic risk could be influenced by the way the question is asked. Risk research has shown that people interpret probabilities in different ways, depending on the outcome and consequences. Her work points in the same direction: probability is not an essential component in peoples' decision-making in cases where there are ways to prevent disease.

Jennifer Viberg Johansson found that people have difficulties making sense of genetic risk when it is presented in the traditional numeric sense. Having a 10% or 50% risk of developing a condition is hard to interpret. Instead, people tend to understand genetic risk as a binary concept: you either have risk, or not. She suggests that we need to keep this in mind when conducting genetic counselling. According to her, genetic counselling needs to be tailored to people's often binary perceptions of risk.

"Communicating risk is difficult, and requires that genetic counsellors understand how different people understand the same figures in different ways," says Jennifer Viberg Johansson.

Facts about SCAPIS: The SCAPIS (Swedish CArdioPulmonary bioImage Study) research programme is a population study involving extensive measurements of 30,000 Swedes aged 50–64. The aim of the project is to find risk markers that allow prediction of who is at risk of cardiopulmonary disease, and prevention of this disease before it occurs. The study is a collaboration among six university hospitals in Sweden, funded primarily by the Swedish Heart-Lung Foundation.

Explore further: Colorectal cancer—combined analysis enhances risk prediction

More information: Individual Genetic Research Results: Uncertainties, Conceptions, and Preferences. uu.diva-portal.org/smash/recor … 3A1236203&dswid=8386

Related Stories

Colorectal cancer—combined analysis enhances risk prediction

February 27, 2018
First-degree relatives affected by colorectal cancer comprise a patient's elevated risk of developing bowel cancer. The same holds true for people who have large numbers of genetic risk markers in their genome. Both factors ...

New study proves double trouble of high genetic risk and poor lifestyle for the development of cardiovascular disease

June 28, 2018
A new study by researchers at the University Medical Center Groningen (UMCG) finds that irrespective of the genetic makeup, a poor lifestyle is linked to development of cardiovascular disease and diabetes.

Physical activity helps fight genetic risk of heart disease, study finds

April 9, 2018
Keeping fit, even if you're born with a high genetic risk for heart disease, still works to keep your heart healthy, according to a study led by researchers at the Stanford University School of Medicine.

Genetic screening could reveal hidden high risk for coronary heart disease

May 20, 2013
Finnish researchers have shown that genetic marker information can improve risk evaluation of coronary heart disease. The study comprised over 24,000 Finnish subjects and was led by Professor Samuli Ripatti. The results revealed ...

Genetic effects are influenced by lifestyle

September 6, 2017
The risk for developing obesity is influenced by our lifestyle as well as our genes. In a new study from Uppsala University, researchers show that our genetic risk for obesity is not static, but is influenced by our lifestyle. ...

Making sense of genetic testing for heart disease

April 28, 2014
(Medical Xpress)—A new study by academics at The University of Nottingham looks at how patients respond to genetic testing for risk of coronary heart disease (CHD).

Recommended for you

Scientists identify method to study resilience to pain

December 14, 2018
Scientists at the Yale School of Medicine and Veterans Affairs Connecticut Healthcare System have successfully demonstrated that it is possible to pinpoint genes that contribute to inter-individual differences in pain.

Researchers uncover molecular mechanisms linked to autism and schizophrenia

December 13, 2018
Since the completion of the groundbreaking Human Genome Project in 2003, researchers have discovered changes to hundreds of places in the DNA, called genetic variants, associated with psychiatric diseases such as autism spectrum ...

CRISPR joins battle of the bulge, fights obesity without edits to genome

December 13, 2018
A weighty new study shows that CRISPR therapies can cut fat without cutting DNA. In a paper published Dec. 13, 2018, in the journal Science, UC San Francisco researchers describe how a modified version of CRISPR was used ...

Noncoding mutations contribute to autism risk

December 13, 2018
A whole-genome sequencing study of nearly 2,000 families has implicated mutations in 'promoter regions' of the genome—regions that precede the start of a gene—in autism. The study, which appears in the December 14 issue ...

New method for studying ALS more effectively

December 13, 2018
The neurodegenerative disease ALS causes motor neuron death and paralysis. However, long before the cells die, they lose contact with muscles as their axons atrophy. Researchers at Karolinska Institutet in Sweden have now ...

Paternal grandfather's high access to food may indicate higher mortality risk in grandsons

December 12, 2018
A paternal grandfather's access to food during his childhood is associated with mortality risk, especially cancer mortality, in his grandson, shows a large three-generational study from Stockholm University. The reason might ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.