Adapting to Life with the Risk or Reality of Genetic Disease: Genetic Counselors Suggest Ways to Help Patients Cope

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If you are afflicted with a genetic disease -- or at risk of developing one -- how do you handle it? Do you tell your loved ones? What is the best way to cope? If your loved one has a genetic disorder, how do you best adapt?

If you are afflicted with a genetic disease -- or at risk of developing one -- how do you handle it? Do you tell your loved ones? What is the best way to cope? If your loved one has a genetic disorder, how do you best adapt?

New research funded by the National Human Genome Research Institute of the National Institutes of Health and presented here at the 27th Annual Education Conference of the National Society of Genetic Counselors, suggests that those who discuss their condition with friends and families, and caregivers who feel some measure of control, adapt best.

-To tell or not to tell a dating partner    
In-depth interviews conducted with 15 women and 16 men with cystic fibrosis (CF) found that adults overwhelmingly disclosed their diagnosis to their dating partners, although they selectively chose certain information to disclose.

The first disclosure often was limited to the immediate medical aspects of the condition. As patients grew closer to the partners, they often shared their fears or concerns, positive aspects, financial aspects or reproductive implications of having CF.

Telling a partner was often motivated by a desire to be honest, and influenced by the seriousness of the relationship. After talking about their diagnosis, many patients described feeling closer to their partners.

Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system.

The research was presented by Jaclyn Douyard, ScM, a genetic counselor at Tufts Medical Center, Boston.

-How caretakers adapt to caring for loved ones with a genetic disorder
A survey of 324 caregivers of children with autism spectrum disorders (ASD) found that caregivers who felt some measure of control over the disorder adapted best to the children's condition. The findings of the study offer potential insight into how genetic counselors can help caregivers.

As a group, the caregivers felt they had a high level of control over a child's medical care and treatment. Caregivers cited their ability to choose the providers they wanted to work with, and their feeling of a sense of partnership with those health care providers in making decisions regarding their child, as two important aspects of this type of control.

One of the most important predictors of a caregiver's level of adaptation was their sense of long-term control over their child's ASD. Two elements that may be important in enhancing long-term control are reducing uncertainty and enhancing optimism about the future.

The authors noted that genetic counselors can play an important role in minimizing uncertainty by helping their clients have an accurate understanding of what scientists know -- and don't know -- about autism. This can reduce the uncertainty caused when caregivers do their own research and worry that there are treatments or cures of which they are unaware.

Caregivers with a feeling of optimism often cited their ability to focus on small, day-to-day progress in order to avoid feeling overwhelmed by the uncertainties that the future may hold. This research illustrates the ways in which genetic counselors can play a critical role in helping clients adapt to having a child with a chronic condition, even when much remains to be learned about the genetics of that condition.

The research was presented by Katie Voss, ScM, clinical services coordinator, Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore.

-Huntington's disease -- how do people adapt to living at risk?
In a study of 191 individuals at risk for Huntington's disease (HD) (55 had tested positive for HD and 136 were at risk because of family history), individuals, on average, disclosed their status to nearly 84 percent of the people in their social network, while more than 15 percent had not disclosed their status to anyone.

Telling others about their status and the number of years an individual had known his or her status were factors that had a positive effect on adaptation to living at risk for the disease.

Huntington's is an inherited, degenerative disease that damages nerve cells in the brain. As the disease progresses, patients experience uncontrolled movements, emotional disturbances and a gradual loss of mental abilities.

The research was presented by Jessica Young Adcock, ScM, a genetic counselor with the Harvey Institute for Human Genetics, Greater Baltimore Medical Center. Co-researchers are from the National Human Genome Research Institute and the Johns Hopkins University Bloomberg School of Public Health and School of Medicine. This research was supported by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health.

About the National Society of Genetic Counselors
NSGC is the leading voice, authority and advocate for the genetic counseling profession. Membership represents more than 2,300 masters-level health professionals, most of whom provide direct patient care (totaling over one million visits per year). Members are employed in a wide range of clinical care, academic, research and biotechnology settings, and are located in every state of the U.S. and internationally. The organization is committed to ensuring that the public has access to genetic counseling and genetic testing. Visit NSGC at

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