Transmitting balanced translocation carrier information within families: A follow‐up study

Abstract

Approximately 1 of 500 individuals is a carrier of a balanced chromosome translocation. Since many translocations are inherited, many (but not all) relatives of carriers have a need to be informed of their potential carrier status. Presently, no data are available as to what extent individuals identified as balanced carriers inform at-risk relatives of the problem. We interviewed 12 balanced translocation carriers to learn whether such information had been transmitted to relatives. The 12 propositi had 36 surviving sibs and 21 surviving parents. Of the 36 sibs, 32 were informed of their risk. The four sibs not informed were from two families. Only 16 of the 32 informed sibs had subsequent carrier testing. Of the 21 surviving parents, 14 were told by their children of their carrier status; subsequently, three parent couples were tested. This survey provides data showing that individuals do not always disclose genetic risk information to relatives. Therefore, genetic professionals need to determine if they have a duty to transmit such information to at-risk relatives in light of the harm that may occur when information is withheld.

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

“…In relation to telling second and third degree relatives our research supports other work (Suslak et al 1985, van Rijn et al 1997, Julian-Reynier et al 2000, Hughes et al 2002, Claes et al 2003 in that participants were more selective about who they told, mainly choosing to disclose to family members they felt emotionally close to or had some contact with. For example, one woman felt a particular responsibility to tell a certain cousin about the newly discovered risk of HD in their family, and although she was viewed as 'outside of the [close] family' she clearly felt some obligation to her:…”

“…Future studies would benefit from gaining access to the potentially differing accounts of different groups. Nevertheless, research relating to communication in families affected by balanced translocations (Suslak et al 1985, Wolff et al 1989, Ayme et al 1993 and recessive conditions such as cystic fibrosis (Denayer et al 1992a, 1992b, Fanos and Johnson 1995, Duster 1999, Ormond et al 2003 also suggests that complex communication issues are not limited to late-onset disorders.…”

“…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).…”

Parental Attitudes and Beliefs regarding the Genetic Testing of Children

“…In all focus groups, respondents acknowledged secrecy regarding illness in families, a finding that is widely reported in other studies regarding intrafamilial disclosures of genetic conditions [56,57,58,59,60,61] Likewise, most thought they would be willing to share this information with family members, but they based their decision to disclose on their relationship with the particular relatives and not on the basis of genetic risk [56,57,58,59,60, 62. ]…”

Two siblings with unbalanced t(10;21) translocations and non-neuropathic neuropathic bladder

“…Unbalanced translocations can either be inherited or occur do novo, with neither parent having balanced rearrangement. However, many individuals may not be aware of their actual or potential carrier status as the decision to inform relatives is left to the known carrier individual 3. In a large retrospective review of 16 749 pregnant women undergoing midtrimester amniocentesis Chang et al 4 reported reciprocal translocation in 0.44%, the commonest type being balanced translocation (76%).…”