Abstract
Rare chromosome conditions (RCCs) are conditions for which molecular diagnostic methods exist, but little else is known in terms of prognosis, recurrence risk and therapy. Lipinski et al. (2006) explored the feelings of uncertainty and loss of control that parents of children with a RCC experience, and found a significant negative correlation between parent’s level of uncertainty and their perception of helpfulness of the genetic counselor. The aim of our study was to expand on Lipinski et al. by surveying genetic counselors with clinical pediatric experience to understand the current practices of the genetic counseling community and the challenges faced by them when counseling RCC cases. We recruited genetic counselors with clinical pediatric work experience through the NSGC listserve to participate in an online, anonymous survey. Genetic counselors were eligible to participate in this study if they have worked in a clinical pediatric setting within the last 5 years. The survey consisted of 39 multiple-choice, Likert scale and open-ended questions. A total of 112 surveys were completed. A majority (92.66%, n=101) of the respondents indicated that counseling a RCC case was challenging. The respondents identified the top three reasons for feeling challenged: minimal prognostic information available to provide to the families; lack of information about the RCC, and lack of resources available to provide to the family. However, the majority (93.58%, n=102) of respondents indicated that they are comfortable counseling RCC cases and generally address the lack of information directly during their session with families. Our findings indicate that there is a need for increased awareness of the resources available to the counselors for their own use and to provide to these families. There is also a need for practice guidelines to provide uniform care to families of children with RCCs.