Impact of genetic testing for Huntington disease on the family system

Abstract

The psychological impact of DNA predictive testing on asymptomatic individuals at risk for Huntington disease (HD) has received considerable attention since the advent of the procedure in 1993. This study examined the impact of such testing on families from the families' perspective. Individuals asymptomatic at the time of testing, together with their families, were interviewed in their homes with a semi-structured interview. Eighteen families with a total of 55 individuals participated. Defining the family as the unit of analysis was consistent with Systems Theory that links interactions of individuals, families, and the social environment. Areas of affected family functioning noted by the respondents included: 1) family membership; 2) family patterns of communication; and 3) future care giving concerns as they influenced current relationships. Eighty-one percent of families experienced changes in family membership. Members in 50% of families experienced changes in patterns of communication, and 56% percent of persons reported changes in current relationships in response to test results and their implications for future caregiving. The data support the conclusion that genetic testing is a family, as opposed to an individual, matter and that family involvement in the decision making process should be strongly encouraged in order to help families adjust. The data imply that families will benefit in pre-test sessions from an examination of their patterns of dealing with illness issues, both past and present.

The Effect of BRCA Gene Testing on Family Relationships: A Thematic Analysis of Qualitative Interviews

“…In the current study, some family members who did not share the mutation felt left out or less connected to their family. To my knowledge, this has not been found previously in BRCA families, however, it has been noted in individuals testing negative for the gene for HD (Sobel and Cowan, 2003;Sobel and Cowan, 2000).…”

“…This has been seen several times before in BRCA families (Phelps et al, 2007;Speice et al, 2002) and in families with HD or FAP (Sobel and Cowan, 2000;Sobel and Cowan., 2003;Duncan et al, 2008). Specifically, the current study highlights that individuals who are the only ones in their family to test positive may be especially at risk of feeling isolated since their family may not be able to empathize and provide the support needed.…”

Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease

“…Although changes in family relationships have previously been noted to occur after predictive testing for HD, 25 this report highlights the fact that individuals link disrupted interactions and patterns of behavior within the family with discrimination. Although discriminatory experiences have not been typically linked to family interactions, this form of GD needs to be considered along with more obvious forms of GD related to insurance and employment.…”

Experiences of predictive testing in young people at risk of Huntington’s disease, familial cardiomyopathy or hereditary breast and ovarian cancer

“…While most studies and reviews report an overall adjustment in the first couple of years post predictive testing, [5][6][7][8] distress levels may start to rise again later, presumably as the time approaches to possible disease onset. 9 Further, individuals may experience difficulties in specific areas of their lives such as family communication 10,11 and discrimination at home and in the work place or with insurance. 12 How young adults choosing to test early cope with such challenges and to what extent pretest counselling provides adequate support and preparation, has not been fully explored.…”