Communication about carrier testing within hemophilia A families

Abstract

Genetic diseases are family diseases. Although there is considerable research on how individuals decide to have genetic testing and their individual reactions to testing, there is limited research on the familial context of genetic testing. In the present study, we focus on three aspects of the family context of genetic testing for hemophilia A carrier status among women at risk to be carriers. We look at the extent to which there was discussion of carrier testing for hemophilia before we offered DNA-based carrier testing to these at-risk women; with which family members these tested women communicated the results of their carrier testing; and concerns these women had about communicating their carrier test results with relatives, including their children. Data suggest that members of families with hemophilia discussed carrier testing prior to study participation, that the communication of testing information within families was selective, not universal, largely following gender lines for this X-linked disorder, and that there was limited concern about communicating carrier status information to children and other relatives. These data reinforce observations that families are social systems, and within these systems information is selectively communicated. A more complete understanding of how families communicate genetic test information will enable providers to develop more effective means of assisting individuals in handling the familial communication aspects of genetic testing.

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

“…Some studies have reported that siblings show transient anxiety and depression after carrier testing. [20][21][22][23] Most studies assessing adolescent or childhood carrier testing are small and address individuals with a family history of X-linked conditions (e.g., Duchenne muscular dystrophy, hemophilia, and fragile X syndrome) and autosomal-recessive conditions; Borry et al provide a summary of some of the early literature in this area. 18,24 These small studies documented high short-term recall and a number of potentially beneficial psychosocial outcomes, including relief in those who are non-carriers, relief from uncertainty in both carriers and non-carriers, and positive reappraisal of self-esteem and self-image.…”

Disclosure of Genetic Information Within Families

“…Among women at risk for hereditary breast and ovarian cancer or X-linked hemophilia A, disclosure of genetic information is largely influenced by sex, with a greater number disclosing to female than to male relatives, reflecting a common misperception that these conditions concern only women 7-11. Many people do not realize that men—especially those with a relevant family history—can develop breast cancer and would, like women, benefit from genetic counseling and testing.…”

‘It's their blood not mine’: Who's responsible for (not) telling relatives about genetic risk?

“…In addition, many of these present exploratory or tentative results based upon small sample sizes, or data collection only a short time after testing (Wilson et al 2004). These studies mainly focus upon late-onset disorders such as Huntington's disease (Shakespeare 1992, Skirton 1998, Cox 1999, Bruce et al 2003, Forrest et al 2003, hereditary breast or ovarian cancer (Julian-Reynier et al 1996, Green et al 1997, Lerman et al 1998, Julian-Reynier et al 2000, d'AgincourtCanning 2001, Hughes et al 2002, Smith et al 2002, Adelsward and Sachs 2003, Claes et al 2003, Costalas et al 2003, Forrest et al 2003, Hallowell et al 2003, Miesfeldt et al 2003 and hereditary nonpolyposis colorectal cancer (HNPCC) , families with balanced translocations 1 (Suslak et al 1985, Wolff et al 1989, Ayme et al 1993, and recessive and sex-linked disorders such as cystic fibrosis (Denayer et al 1992a, 1992b, Fanos and Johnson 1995, Duster 1999, Ormond et al 2003, haemophilia (Varekampf et al 1992, Sorenson et al 2003 and Duchenne muscular dystrophy (Fitzpatrick and Barry 1990).…”