Supporting disclosure of genetic information to family members: professional practice and timelines in cancer genetics

Abstract

Disclosure of genetic information within families is one of the longstanding questions under scrutiny in the field of genetics. Most of the probands entrusted with family disclosure succeed in this task, but there are still many problematic cases where it proves difficult. How can professionals help probands disclose this information? What levers can they activate to foster the diffusion of genetic information within families? In the context of a new legal framework concerning this question in France, this paper offers a comprehensive view of the process of genetic counselling in a cancer genetics department. Based on an ethnographic study, it focuses on the interactions between professionals and probands during each step of the testing procedures in order to identify key times when the issue can be addressed. The results show that the question of family disclosure needs to be addressed before, during and after the test. Greater awareness of this continuum among professionals could help them foster family disclosure by supporting the probands at each stage of the testing procedure.

When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals’ views regarding disclosure of BRCA genetic cancer risk

“…Patient autonomy, confidentiality and/or the law can also contribute to the reluctance to facilitate disclosure 10. Follow-up calls/appointments to address disclosure are considered worthwhile to revisit the topic of disclosure with families, particularly when legislative changes occur,28 yet resource and time constraints can make this impracticable 29…”

Familial disclosure by genetic healthcare professionals: a useful but sparingly used legal provision in France

“…The observations made during consultations suggested a marked preference among probands (persons tested) to personally inform family members about a deleterious genetic variant. This preference was clearly expressed when signing the consent after the initial information consultation 18. In France, the legal framework governing familial disclosure requires HCPs to ask probands to state, in writing, their preferred method for disclosing genetic information to relatives.…”

“…During the consultations observed in oncogenetics, we noted the HCPs’ considerable efforts to provide information and raise awareness about the importance of familial disclosure 18. Considerable time (10–15 min in an initial consultation lasting on average 45 min) was spent explaining the genetic mechanisms by which the risk is transmitted and the implications for the family, but the question of how familial disclosure should take place was only briefly addressed.…”

Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic

“…Whilst there is much debate about the emergence versus forcing of data using a grounded inductive approach (Kelle, ), the initial analysis was undertaken without referring to the literature and was presented at two conferences, although KFK was familiar with previous studies in this field. In the later stages of analysis and writing, the literature review was updated and the findings were discussed in relation to studies on family communication about genetics (Atkinson, Featherstone, & Gregory, , Forrest Keenen et al ; Metcalfe et al, ; van den Nieuwenhoff, Mesters, Gielen, & Vries, ) and the role of genetic health professionals in this area (Derbez et al, ; Eisler et al, ; Mendes et al, ; Ulph et al, ). In addition, KFK reread the whole dataset during the writing stage to review and readjust the initial presentation of results.…”

“…Whilst a small body of work has begun to develop interventions to help facilitate parent/child communication about inherited conditions (Eisler et al 2016;Peshkin et al, 2010;Werner-Lin et al, 2018), there is a need to understand more about how genetic health professionals actually support and assist parents in clinical genetics practice. This is important given ongoing debates about whose responsibility it is to disclose sensitive genetic risk information to relatives and a move in some countries toward increasing the responsibility and involvement of genetic health professionals (Derbez, Pauw, Stoppa-Lyonnet, & Montgolfier, 2017;Dheensa, Fenwick, & Luassen, 2016). For example, in France there have been recent changes to the law which may increase the obligation of professionals to ensure that genetic risk information has been passed on to family members (Clarke & Wallgren-Pettersson, 2019).…”