Stacy Gray, M.D.
As more people receive genetic testing to help them understand their risk for developing a wide range of cancers and other diseases, there is an urgent need to understand the psychological effects a person might experience after receiving test results.
A National Institutes of Health-funded study, which was led by City of Hope’s Stacy W. Gray
, M.D., examined a person’s anxiety and depression levels before and after they received test results in a clinical office. Researchers found that anxiety and depression did not increase significantly following genetic test result disclosure.
Anxiety, Depression Actually Decreased
Anxiety levels decreased by approximately 20% and depression decreased by about 10%, according to the article published recently in Genetics in Medicine
, a Nature journal.
“In general, if individuals had any anxiety or depression at baseline, after they received their test results the anxiety and depression actually went down rather than up,” said Gray, associate clinical professor with City of Hope’s Division of Clinical Cancer Genomics
in the Department of Population Sciences
. “That was extraordinarily reassuring.”
The meta-analysis, which examined the psychological assessments of about 1,300 people across seven Clinical Sequencing Exploratory Research Consortium studies, also found an overall trend for a decrease in participants’ anxiety and low levels of test-related distress and perceptions of uncertainty in some populations, and a wide range of positive responses.
'Steps Patients Can Take'
There are various reasons why anxiety and depression decreased after people received test results, Gray said.
“People tend to be very resilient and assimilate the information quickly after receiving test results,” she said. “Further, often there are steps patients can take to deal with genetic risk. For example, when people find out that they are at risk for a disease, such as colon cancer, they can take steps to help prevent it, such as having a colon cancer screening. Similarly, in the rare case that people find out that they are at high risk of sudden death from a cardiac genetic defect, they can get an implantable defibrillator to help ensure that they don’t suffer a fatal cardiac event.”
Test-related uncertainty and distress were lower among healthy adults, intermediate among adults with known disease and greatest among children with known disease.
While pediatric patients reported more distress, they also had more positive emotional responses. This type of apparently “contradictory” response can happen if parents of very ill children are both relieved to get a diagnosis (because it explains a child’s symptoms) but are also upset to learn that the condition is hereditary and that other family members may be at risk.
Among participants who received primary findings of a disease, meaning they were seeking care for the disease that resulted from the genetic finding, there also was higher test-related distress and uncertainty than among participants who were disease carriers but did not have a disease.
The study can help researchers and clinicians to prospectively identify individuals who may be at highest risk of clinically significant distress following testing. Individuals at high risk for test-related distress may need additional genetic counseling and support through the testing process to minimize harm.
Positive response to Genetic information
“The first step in this line of work was to ensure that patients respond well to genetic information, which this study successfully demonstrated,” Gray added. “The next step is to develop a novel approach to genomic information-sharing that not only provides patients with the data but also helps them to understand the meaning of the information so that they can take actions to improve their health and cancer outcomes.”
Gray also notes that the results might have differed if people had received results from direct-to-consumer testing (such as 23andme or Pathway Genomics). Patient psychological outcomes may have been different because they wouldn’t have access to medical professionals, such as genetic counselors, who can explain the results to them and recommend preventive screenings. Gray published previous research
related to this topic.
Gray recently was one of six physicians to receive an inaugural “Genomic Innovator Award” from the National Human Genome Institute, part of the National Institutes of Health, for her genetics research. The award supports the early careers of researchers studying genome biology, genomic medicine, technology development and societal implications of genomic advances. Gray will receive more than $500,000 per year over a five-year project period — $2.65 million in total.
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