The different facets of "culture" in genetic counseling: A situated analysis of genetic counseling in Hong Kong.

In this article, we problematize the concept of "culture" in genetic counseling. With globalization and increased mobility of both genetic professionals and clients, there is an increased acknowledgement of the impact of "culture" on a counseling process. There is, however, little agreement on what "culture" is. The essentialist understanding that has long been dominant in the medical literature views culture as a set of shared beliefs, attitudes and practices among a group of people. Such an approach does not account for the individual differences and the dynamic nature of genetic counseling encounters. Following Zayts and Schnurr (2017), we use the distinction between two orders of culture: culture1 that refers to the static, generalized understanding of culture that is external to the specific context, and culture2 , an analytic concept that denotes dynamic enactments of culture, emerging in the interaction. We use empirical data from genetic counseling sessions to illustrate these different facets of culture and to consider how and why speakers draw on them. The clinical implications of the study include highlighting the importance of cultural awareness among counselors, including cultural self-awareness, and demonstrating how authentic interactional data could be used to enhance cultural training in genetic counseling.

New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.

BACKGROUND: Over recent years genetic testing for germline mutations in BRCA1/BRCA2 has become more readily available because of technological advances and reducing costs. OBJECTIVE: To explore the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (EOC). METHODS: Between 1 July 2013 and 30 June 2015 women newly diagnosed with EOC were recruited through six sites in East Anglia, UK into the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study. Eligibility was irrespective of patient age and family history of cancer. The psychosocial arm of the study used self-report, psychometrically validated questionnaires (Depression Anxiety and Stress Scale (DASS-21); Impact of Event Scale (IES)) and cost analysis was performed. RESULTS: 232 women were recruited and 18 mutations were detected (12 in BRCA1, 6 in BRCA2), giving a mutation yield of 8%, which increased to 12% in unselected women aged <70 years (17/146) but was only 1% in unselected women aged ≥70 years (1/86). IES and DASS-21 scores in response to genetic testing were significantly lower than equivalent scores in response to cancer diagnosis (p<0.001). Correlation tests indicated that although older age is a protective factor against any traumatic impacts of genetic testing, no significant correlation exists between age and distress outcomes. CONCLUSIONS: The mutation yield in unselected women diagnosed with EOC from a heterogeneous population with no founder mutations was 8% in all ages and 12% in women under 70. Unselected genetic testing in women with EOC was acceptable to patients and is potentially less resource-intensive than current standard practice.

Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access.

Decreasing costs of genetic testing and advances in treatment for women with cancer with germline BRCA1/BRCA2 mutations have heralded more inclusive genetic testing programs. The Genetic Testing in Epithelial Ovarian Cancer (GTEOC) Study, investigates the feasibility and acceptability of offering genetic testing to all women recently diagnosed with epithelial ovarian cancer (universal genetic testing or UGT). Study participants and staff were interviewed to: (i) assess the impact of UGT (ii) integrate patients' and staff perspectives in the development of new UGT programs. Semi-structured interviews were conducted with twelve GTEOC Study participants and five members of staff involved in recruiting them. The transcripts were transcribed verbatim and analyzed using Interpretative Phenomenological Analysis. There are two super-ordinate themes: motivations and influences around offers of genetic testing and impacts of genetic testing in ovarian cancer patients. A major finding is that genetic testing is contextualized within the broader experiences of the women; the impact of UGT was minimized in comparison with the ovarian cancer diagnosis. Women who consent to UGT are motivated by altruism and by their relatives' influence, whilst those who decline are often considered overwhelmed or fearful. Those without a genetic mutation are usually reassured by this result, whilst those with a genetic mutation must negotiate new uncertainties and responsibilities towards their families. Our findings suggest that UGT in this context is generally acceptable to women. However, the period shortly after diagnosis is a sensitive time and some women are emotionally overburdened. UGT is considered a 'family affair' and staff must acknowledge this.

Family Communication in Inherited Cardiovascular Conditions in Ireland.

Over 100,000 individuals living in Ireland carry a mutated gene for an inherited cardiac condition (ICC), most of which demonstrate an autosomal dominant pattern of inheritance. First-degree relatives of individuals with these mutations are at a 50 % risk of being a carrier: disclosing genetic information to family members can be complex. This study explored how families living in Ireland communicate genetic information about ICCs and looked at the challenges of communicating information, factors that may affect communication and what influence this had on family relationships. Face to face interviews were conducted with nine participants using an approved topic guide and results analysed using thematic analysis. The participants disclosed that responsibility to future generations, gender, proximity and lack of contact all played a role in family communication. The media was cited as a source of information about genetic information and knowledge of genetic information tended to have a positive effect on families. Results from this study indicate that individuals are willing to inform family members, particularly when there are children and grandchildren at risk, and different strategies are utilised. Furthermore, understanding of genetics is partially regulated not only by their families, but by the way society handles information. Therefore, genetic health professionals should take into account the familial influence on individuals and their decision to attend genetic services, and also that of the media.

Accounts of consent: Orienting to self-other relations regarding motivations to participate in cancer bio-banking.

The motivations of those who give consent to bio-banking research have received a great deal of attention in recent years. Previous work draws upon the notion of altruism, though the self and/or family have been proposed as significant factors. Drawing on 11 interviews with staff responsible for seeking consent to cancer bio-banking and 13 observations of staff asking people to consent in routine clinical encounters, we investigate how potential participants are oriented to, and constructed as oriented to, self and other related concerns (Sarangi 2007). We adopt a rhetorical discourse analytic approach to the data and our perspective can be labelled as 'ethics-in-interaction'. Using analytic concepts such as repetition, extreme case formulation, typical case formulation and contrast structure, our observations are three-fold. Firstly, we demonstrate that orientation to 'general others' in altruistic accounts and to 'self' in minimising burden are foregrounded in constructions of motivation to participate in cancer bio-banking across the data corpus. Secondly, we identify complex relational accounts which involve the self as being more prominent in the consent encounter data where the staff have a nursing background, whereas 'general others' feature more when the staff have a scientific background. Finally, we suggest implications based on the disparities between how participants are oriented during interviews and consent encounters, which may have relevance for developing professional reflective practice.

On the limits of genetic responsibility: communication and consent for tumour testing for Lynch syndrome.

Testing cancers for mismatch repair (MMR) gene defects assists selection of families for genetic testing for cancer predisposing Lynch syndrome. Performing MMR tumour testing without consent is debated, though little empirical work has been undertaken. We address this by examining the significance of testing for those who have consented without prior genetic counselling particularly their 'accounts' of testing via displays of knowledge and responsibility. Semi-structured interviews were conducted with participants recruited from a UK genetics service. Participants had difficulties in formulating the benefits of testing when consent was facilitated by a relative or by mail. Discourse analysis revealed that in the absence of specific or accurate understandings of tumour testing participants displayed responsibility towards themselves and others by generalising and diminishing the implications of testing. Within the framework of 'genetic responsibility', MMR tumour testing seems less important in participants' accounts compared to more definitive genetic testing. If facilitating genetic knowledge and responsibility are goals of genetic testing then developing appropriate consent procedures for MMR tumour testing is an important consideration. Further research is required to differentiate whether genetic counselling is a precondition for enacting genetic responsibility or whether intrinsic differences between types of testing make the concept less relevant.