Parents Often Tell Children of Genetic Test Results Before It's Necessary

CHICAGO, Aug. 17 -- Many parents who undergo genetic testing disclose the results to their children long before preventive interventions are indicated, investigators here reported.

More than half of a group of adult carriers of the BRCA gene mutation discussed hereditary cancer risk with at least one child, according to a study reported online and in the Aug. 20 issue of the Journal of Clinical Oncology.

But seldom did those parents consult physicians or genetic counselors before talking to their children about the test results or their risks, Christopher K. Daugherty, M.D., of the University of Chicago, and colleagues stated.

The impact and consequences of such disclosures are unclear, they noted, but the potential exists for negative fallout.

"[S]ome offspring may not fully understand the information shared and . . . there is a potential for initial adverse reactions among offspring in response to parent disclosures," Dr. Daugherty and colleagues stated.

More research into the long-term psychological impact on children is needed to help define the role of health care professionals and genetic counselors in communicating information about genetic testing, they concluded.

The discovery of the BRCA1 and BRCA2 cancer genes thrust genetic testing to the forefront of cancer risk assessment. Carriers of the mutation are counseled to consider risk-reducing interventions, such as prophylactic surgery and intensive surveillance.

Because interventions generally do not need to occur before age 25, most professional societies have recommended against genetic testing of minors for conditions that are unlikely to arise before adulthood and for which preventive or therapeutic measures are not indicated until adulthood.

Even so, previous studies have indicated that half of BRCA carriers inform their minor children of their mutation status.

"None of the studies to date have provided great insight into parent experiences with disclosure, how parents make the decision to disclose, and the role of health care professionals in the decision and process of disclosing," the authors stated.

To address some of the unanswered questions, the investigators analyzed data from interviews with 42 parents from 32 families with a total of 86 children. Each parent completed a 31-item semi-structured interview administered by trained research assistants.

The parents' mean age was 45, and all but five of the participants were women. Two-thirds of the interviewees had the BRCA1 mutation. The authors reported that 23 participants (55%) had a personal history of BRCA-associated cancer. All but six of the women had undergone prophylactic oophorectomy, and 17 had had prophylactic mastectomies.

Most of the parents had two or more children, whose median age was 12 at the time of their parents' genetic tests. A third of the children were younger than 10 at the time of testing, and 31% were 18 to 25.

The survey revealed that 23 (55%) of the parents had discussed hereditary risk of cancer with at least one child, and 21 (50%) had disclosed their genetic test results to one or more children. Of those who discussed the testing with their children, 70% did so immediately after receiving the results but some delayed the disclosure for as long as six years.

Factors associated with disclosure of test results were older age of the child, female parent, parent history of prophylactic surgery, and lower educational level of parent. Those associations remained significant in a multivariate analysis (P=0.040 to P<0.0005). Neither the child's gender nor the parent's history of cancer was associated with disclosure.

When asked to identify the most important person who assisted in the decision to discuss the test results with the child, 45% of parents cited themselves and 43% said their spouse. Only 5% said a health care professional.

If a health care professional was involved in the decision, 21% said it was a genetic counselor and 14% reported a physician's involvement.

Almost two thirds of parents (61%) said they did not believe that a meeting between their children and a genetic counselor would be helpful.

Parents' perceptions of their children's response to the disclosure were mixed. Of those who addressed their children's reactions, half said their child or children did not appear to understand the significance of the information.

Almost half (48%) of the parents described negative reactions that ranged from concern or anxiety to strong emotional reactions such as fear or crying.

Two-thirds of the parents said disclosure of the genetic test results had no effect on their relationship with their children.

The authors stated that the findings emphasize the need for more research and information about the impact of disclosure on children.

"This represents a critical gap in the field of cancer genetics and counseling, with little information available to health care professionals who counsel carriers of the BRCA mutation about the impact of discussing genetic risk with their children before the recommended age of medical screening or intervention," they said.