How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

Abstract

Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) INTRODUCTIONSupporting consultands of genetic services to effectively communicate information about genetic risks with their relatives is key to obtaining the full benefits of genetic health care. 1 Genetic health practitioners typically rely on the proband (or, for child probands, the parents) to inform relatives about their potential at-risk status. Passing on such information can be problematic, which may prevent relatives from making informed choices regarding risk management of the disease and life planning decisions. 2 Individual characteristics and patterns of family behaviour and relationships, disease characteristics and cultural factors may withhold or delay disclosure of genetic information to atrisk relatives, even when consultands see this as their personal responsibility. [3][4][5][6][7] Although guidelines recommend that professionals should not contact family members directly, that also state that professionals should actively encourage consultands to transmit relevant risk information to relatives and support them throughout the communication process; however, there is lack of clarity regarding how this should be done. 8,9 There has been some discussion on how to cascade information about genetic health risks to the relatives of patients with familial hyper-cholesterolaemia, including the active contacting of relatives directly by professionals, although this depends entirely upon information provided by the proband. 10 With genetic diseases increasingly treatable and preventable, some recommend a more proactive role of genetic professionals. 11,12

Counsellee’s experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information

“…Having the mutation in common seemed to strengthen the bonds in some families. This has been supported elsewhere (Forrest et al 2008) and genetic counsellors are well aware of the importance of addressing the family communication with counselees (Mendes 2015).…”

Communication of Information about Genetic Risks: Putting Families at the Center

“…Indeed, the reflective process commonly used by professionals when supporting consultands through predictive testing will not always address the communication processes operating within the family. Consistent with this, interventions aimed at facilitating communication to relatives are mainly centered on the need of the patient to disclose information about him/herself, so that relatives may come to know their own risks (Mendes et al., ). Information is typically delivered as a single transaction, often in a transmitter–receiver fashion, highlighting what is communicated and with whom.…”

“…GHPs work mostly with individuals or nuclear families, and often have limited access to the wider family network. Help offered by these professionals is usually information based and focuses predominantly on the individual, rather than the family unit (Mendes, Paneque, Sousa, Clarke, & Sequeiros, 2016). GPHs also indicate they do not always address issues of family communication in their practice (Forrest, Delatycki, Curnow, Skene, & Aitken, 2010).…”

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.…”

“…As a consequence, patients may seek support and assistance from genetic health professionals about how and when to tell their children (Eisler et al ; Metcalfe et al, ). Given that a key aspect of genetics healthcare is to support and encourage family communication, it is expected that genetic health professionals will have these discussions with parents (McCarthy Veach, Bartels, & Leroy, ; Mendes, Paneque, Sousa, Clarke, & Sequeiros, ). However, there can be professional uncertainty about what disclosure advice to give parents, and concerns about the ethics of sharing genetic information with affected or at‐risk children and young people (BMA ; Eisler et al, ; Ulph, Leong, Glazebrook, & Townsend, ).…”