Genetic Testing and the Psychological Implications for Children

In order to offer the most helpful genetic services, researchers have spent a great deal of time not only improving the quality of the gene test, but also evaluating the psychological and social effects of testing. The use of genetic testing in children remains controversial, yet lacks research on which to base recommendations and guidelines. In 1995, the American Society of Human Genetics and the American College of Human Genetics concluded that predictive testing (testing for a condition that has not occurred) in children is justified if the test result is of timely medical benefit to the child, if there are treatment options for children who test positive, and if a reduction in surveillance is warranted in children who test negative.¹

Familial adenomatous polyposis (FAP) is an autosomal-dominant hereditary colorectal cancer syndrome, meaning that people with FAP have a 50% chance of passing the condition to each of their children. FAP results in the formation of hundreds to thousands of adenomatous polyps in the colon that will eventually develop into colorectal cancer if left untreated. Individuals who inherit this condition will most likely develop colorectal cancer by the age of 40.²It is recommended that children at risk for FAP begin annual sigmoidoscopy screening around age 10, and when polyps appear, to undergo colon removal to prevent colorectal cancer.Because there is life-saving treatment available for people with FAP, the American Gastroenterological Association recommends that children at risk for FAP undergo genetic counseling and consider genetic testing.³ Children who test positive and receive the appropriate surveillance and surgery have the chance of a normal life expectancy, while children who test negative may reduce their screenings.

In 1996, psychologist Dr. Ann Marie Codori, along with other researchers at the Johns Hopkins Hospital, published a report of the short-term psychological effects of gene testing for FAP in children.⁴This study examined the effect of gene test results on symptoms of depression and anxiety, as well as on measures of child behavior problems and competencies. After evaluating data collected before testing and 3 months later, the authors concluded that in the short-term, there were no clinically significant increases in distress after gene testing. Regardless of their own test results, however, the children whose mothers were affected with FAP showed statistically significant increases in depression and anxiety scores. These were considered subclinical increases, meaning the scores did not reach levels indicative of psychological problems needing professional treatment. Nonetheless, the findings indicated the need to examine the long-term psychological effects of testing.

The results of Dr. Codori’s long-term follow-up will most likely be available in the scientific literature within the next year, but a brief summary of the findings is reported here. The long-term follow-up analysis included 48 children from 28 different families. In addition to the data collection mentioned above, the same measures of depression, anxiety, behavior problems, and behavior competencies were measured again at 12 months and at 23-55 months (termed the long-term follow-up) after test results were revealed. Twenty-two children tested positive for the FAP causing mutation and 26 children tested negative. As in the first report, there were no clinically significant changes in anxiety, depression, behavior problems, or behavior competency scores regardless of the child’s gene test results. Some interesting and thought-provoking findings related to the children and the test results of their family members, however, were uncovered.

Regardless of their own gene test results, children with one or more mutation-positive siblings tended to experience increases in depression and anxiety symptoms. Depression scores of mutation-positive children with mutation-positive siblings were significantly higher at the one-year follow-up than before gene testing, while the depression scores of mutation-positive children without mutation-positive siblings were significantly lower at long-term follow-up than before gene testing. As a whole, depression scores for these children remained in the subclinical range. However, a small number of children did experience clinical elevations in anxiety scores. Five children, four of whom had mutation-positive siblings, scored within the normal range for anxiety symptoms before testing but had clinically elevated scores at one or more of the follow-ups. Despite these increases in depression and anxiety scores, children with a mutation-positive sibling tended to have fewer overall behavior problems than children without a positive sibling. Collectively, these findings suggest that in some cases, the child’s psychological responses to testing may depend on the test results of other family members, and perhaps, the children’s attempts to cope with their own and their siblings’ results.

The results of Dr. Codori’s long-term follow-up study show that most children adapt to their own gene test results, and that in most children, testing is not associated with clinically significant increases in average scores on tests of depression/anxiety symptoms, or behavior problems, or decreases in behavior competencies. Despite the overall favorable results, the findings of increased anxiety and depression symptoms among children with positive siblings should not be overlooked. These findings are relevant in the clinical setting, as families’ psychological needs after testing appear to depend upon the test results of the entire family.

These conclusions are based on a relatively small sample size and should be confirmed in larger populations of children and families. The evaluation of predictive testing in other childhood cancer syndromes may also contribute substantially to this body of knowledge. Hopefully, future inquiry and research in this area of genetic testing will lead to evidence-based clinical guidelines and recommendations for children and families undergoing genetic testing.

Kristin L. Zawacki MSN, RN, is a doctoral candidate at the Johns Hopkins University School of Nursing. Ann Marie Codori, PhD, is Assistant Professor at the Department of Psychiatry and Behavioral Sciences and a consultant to MACGN.

1 ASHG/ACMG (1995).Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am J Hum Genet 57:1233-1241.

2 Giardiello FM. (1997). Genetic testing in hereditary colorectal cancer. JAMA 278:1278-1281.

3 Winawer SJ, Fletcher RH, Miller L, et al.(1997). Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 112: 594-642.

4 Codori A, Petersen GM, Boyd PA, Brandt J, & Giardiello FM (1996). Genetic testing for cancer in children short term psychological effects. Arch Pediatr Adolesc Med 150:1131- 1138.