Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing

TLDR

Early experience shows that very few adults with cystic fibrosis or their siblings take advantage of population screening, and similar low utilization is seen among adult CF siblings. This study aimed to identify factors that motivate or hinder adult cystic fibrosis siblings from pursuing carrier testing. Eighty‑four adult CF siblings and their spouses were interviewed for about an hour, and the qualitative data were coded into thematic categories. The study identified eight structural and psychological barriers—including difficulty accessing information, parental guilt, lack of sibling discussion, patient/parent reluctance, myths, diminished meaning of odds, fear of losing desirability, and the protective function of remaining unaware—that influence siblings’ decisions to seek carrier testing. © 1995 Wiley‑Liss, Inc.

Abstract

Abstract Early experience in centers offering population screening for cystic fibrosis (CF) has shown that few of the public are taking advantage of the offer [Miller, 1993: New Scientist 139:6]. There is similar low utilization among adult CF sibs [Fanos and Johnson, 1993: Am J Hum Genet 53:A51]. The purpose of this study was to identify factors motivating or interfering with the pursuit of carrier testing in adult CF sibs. Eighty‐four adult CF sibs and their spouses, drawn from Children's Hospital, Oakland, CA, and Children's Hospital, Boston, MA, were interviewed for about an hour, and qualitative material was coded on various themes. Structural and psychological barriers to the transmission of genetic information were identified: 1) sibs encountered difficulty in obtaining information concerning availability of testing; 2) parental guilt and blame prevents parents from discussing genetic issues with the sib; 3) sibs rarely discuss testing with each other; 4) the CF patient or parent often has difficulty with the implications of the sib seeking carrier testing; 5) family and individual myths about carrier status influence the sib's decision to seek testing; 6) statistical odds have lost meaning in families where the rare has already occurred; 7) the sib fears loss of interpersonal desirability; and 8) carrier status can serve an important function in binding guilt. Remaining unaware of their carrier status may serve significant psychological functions for individuals at risk. © 1995 Wiley‐Liss, Inc.