Eighty-six percent of study participants chose to have genetic testing

WASHINGTON, D.C., Nov. 4 – Women with a family history of breast and ovarian cancer who chose to undergo genetic testing appear to experience no significant psychological distress about their decision to be tested, even when an increased cancer risk was discovered. Results of a NIH study on the topic are being presented this week at the 20th Annual Education Conference of the National Society of Genetic Counselors.

The study was co-funded and conducted by the National Human Genome Research Institute and the National Cancer Institute of the National Institutes of Health

All women are born with breast cancer genes BRCA1 and BRCA2. The risk of  developing breast and/or ovarian cancer significantly increases when these genes are damaged, or mutated.  About 50 to 60 percent of women with inherited BRCA1 or BRCA2 mutations will develop breast cancer by the age of 70,  according to the American Cancer Society (ACS).

In the study, 212 relatives from 13 hereditary breast and ovarian cancer families with known BRCA1 and BRCA2 mutations completed questionnaires. The questionnaires were administered prior to testing and between six and nine months after genetic test results were given, or would have been given had the at-risk family member chosen to undergo testing. Psychological well-being was assessed using measures for depression, self-esteem, intrusive thoughts, cancer worries and family relationship characteristics.

More than 8 in 10 (86 percent) of the at-risk family members chose to be tested, of which more than 1 in 4 (26 percent) were found to carry a familial gene mutation.  Six to nine months after the test results were given, no difference in psychological well-being was found between the testing versus non-testing groups.  In addition, there were no differences between those who tested positive and those who tested negative in terms of depression, self-esteem and intrusive thoughts.

Psychological Well-Being Remains Intact for Women who Choose Genetic Testing – Page 2

Women who chose to undergo genetic testing were more likely to be age 40 and older, to have relatively low levels of optimism about their cancer risk going into the test, and to report higher levels of cohesiveness in their family.

“Research seems to suggest that people cope and adapt pretty well with the decision to undergo genetic testing,” said Aideen McInerney-Leo, co-author of the NIH study, genetic counselor and assistant director of the Johns Hopkins University and National Humane Genome Genetic Counseling Training Program.

The results of the NIH study are consistent with the findings of other studies assessing the psychological effects of genetic testing, according to Kathy Schneider, incoming president of the National Society of Genetic Counselors (November 2001), and author, Counseling About Cancer: Strategies for Genetic Counseling. “Several studies affirm that making the decision to be tested is empowering,” Schneider said.  “Over time, all of the resources of the person who was tested and learned that they have a strong predisposition to cancer can go towards that issue.  The person who decides against testing is left with the uncertainty of not knowing.”

Breast cancer genetic testing typically involves three steps: 1) pre-test counseling to explain the benefits and risks of the test and the types of results that will be achieved so that the consumer can decide whether she wants to proceed; 2) blood test and analysis; and 3) post-test counseling/results discussion. Most genetic testing is anonymous, whereby results are identified and accessed by number rather than the patient’s name.

Co-authors of the paper on the topic being presented by McInerney-Leo are B. Bowles Biesecker, T.R. Giambarresi, R.G. Kase, D. Hadley, C. Lerman and J.P. Struewing.

The National Society of Genetic Counselors (NSGC) is the leading voice, authority and advocate for the genetic counseling profession. Approximately 2,000 genetic counselors are members of the NSGC. Genetic counselors are health professionals who have specialized graduate degrees and experience in medical genetics and counseling. 

TO FIND A GENETIC COUNSELOR:
Consumers can locate a genetic counselor in the U.S. or abroad by visiting http://www.nsgc.org and clicking on Resource Link.  Searches are available by geography, last name or institution.

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For more information, go to the Public Health Perspective Page on Breast and Ovarian Cancer Susceptibility