Elvira Zilliacus

Getting to the Point: What Women Newly Diagnosed With Breast Cancer Want to Know About Treatment-Focused Genetic Testing

PURPOSE/OBJECTIVES To identify young womens information preferences regarding treatment-focused genetic testing (TFGT) and to develop and evaluate a novel educational resource. RESEARCH APPROACH Qualitative interview study and pilot testing of a novel resource. SETTING Two familial cancer services and one outpatient oncology clinic in Sydney and Melbourne, Australia. PARTICIPANTS 26 women with breast cancer aged 50 years and younger who either previously had TFGT (n = 14) or had a diagnosis of breast cancer within the previous 6-12 months. METHODOLOGIC APPROACH Participants were asked about their views of TFGT in semistructured interviews. A brief pamphlet on TFGT then was developed and pilot tested with 17 of the 26 women. MAIN RESEARCH VARIABLES Womens attitudes and preferences with regard to timing, mode of delivery, and amount and format of information regarding TFGT were explored. FINDINGS Most women wanted to be informed about TFGT at or around the time of their cancer diagnosis via a face-to-face consultation. No clear preference existed for which type of healthcare professional should provide information on TFGT. Brief written information about TFGT was viewed as important supporting material. The educational resource developed was well received. CONCLUSIONS The potential for more widespread TFGT in the future indicates a need for patient educational materials that enable women to make informed choices about TFGT. This pilot study has provided timely initial evidence on the efficacy of a brief written resource in preparing women for decision making about TFGT. INTERPRETATION The resource developed in this study will assist oncology nurses to make important genetic risk information available to women newly diagnosed with breast cancer at a stressful time.

The virtual consultation: Practitioners' experiences of genetic counseling by videoconferencing in Australia

OBJECTIVE Videoconferencing for clinical genetics services, or telegenetics, is becoming an increasingly utilized method of delivering genetic counseling to rural areas; however, there has been little qualitative exploration of the practitioners experience, particularly for hereditary breast/ovarian cancer counseling. METHODS Semistructured interviews were conducted with genetic practitioners (n=15) delivering telegenetics services in New South Wales, Australia. Interviews explored experiences, perceived aims of the service, satisfaction, and the advantages and disadvantages of the technology. Interviews were audiotaped, transcribed, and thematically analyzed. RESULTS All practitioners were highly satisfied with telegenetics. They perceived the advantages of videoconferencing as primarily increased efficiency and convenience for genetic clinicians, minimized travel for the patient, reduced costs, and increased access to rural areas. Disadvantages included the inhibition of rapport building between genetic clinician and patient and the difficulty in detecting nonverbal cues. Telegenetics was seen as a structured interaction that allowed less time for emotional exploration than a traditional face-to-face consultation. Technical disadvantages involved visual resolution, connection speed, and interruptions to voice transmission. CONCLUSION Practitioners were satisfied with telegenetics and perceived the advantages as outweighing the disadvantages.

To know or not to know: an update of the literature on the psychological and behavioral impact of genetic testing for Alzheimer disease risk.

Alzheimer disease (AD) is a genetically heterogenous disorder; in rare cases autosomal dominantly inherited mutations typically cause early-onset familial AD (EOAD), whereas the risk for late-onset AD (LOAD) is generally modulated by genetic variants with relatively low penetrance but high prevalence, with variants in apolipoprotein E (APOE) being a firmly established risk factor. This article presents an overview of the current literature on the psychological and behavioral impact of genetic testing for AD. The few studies available for presymptomatic testing for EOAD showed that only a very small proportion of individuals had poor psychological outcomes as a result. Initial interest in testing for EOAD decreases significantly after identification of a specific mutation in a kindred, suggesting that interest and potential for knowledge may not translate into actual testing uptake. The majority of individuals from both the general population and those with a family history of AD had positive attitudes towards, and were interested in, susceptibility testing for APOE. Motivations for genetic testing included to provide information for future planning and to learn about ones own and ones childrens risks of developing AD. Although susceptibility testing for APOE genotype is not currently recommended due to the lack of clinical utility, this review demonstrates that there is interest in testing and no obvious adverse psychological effects to those who have been tested.

A Balancing Act—Telehealth Cancer Genetics and Practitioners’ Experiences of a Triadic Consultation

Telehealth is increasingly used for outreach service in cancer genetic counseling; however what occurs during the consultation and the roles practitioners adopt is largely unknown. Fifteen practitioners participated in semi-structured interviews that explored their roles within telehealth, compared to face-to-face consultations, and the relationship between practitioners during telehealth. As they were not physically present with the patient, most participants felt that telehealth altered the genetic clinician’s role to one of a ‘visiting specialist’. Genetic counselors described undertaking multiple roles during the telehealth process. Two models of interaction were observed. The medical model reduced the interaction to a dyadic consultation by having the genetic counselor off-screen and included minimal clinician meetings and supervision. The triadic co-facilitation model incorporated a high level of information exchange, counselor autonomy and included the counselor onscreen. The co-facilitation model offers a useful framework for telehealth genetic counselling, offering complementary roles between practitioners and efficient service delivery.

Supporting patients with low health literacy: what role do radiation therapists play?

PurposeHealth literacy plays a key role in a patient’s ability to use health information and services, and can affect health outcomes. This study aimed to explore radiation therapists’ perspectives on how they support people with lower health literacy who are undergoing radiotherapy.MethodsSemi-structured interviews were conducted with 25 radiation therapists working in radiation oncology departments in New South Wales, Australia.ResultsThe four key themes were (1) the process of identifying a patient with low health literacy, (2) the perceived consequences of low health literacy, (3) managing and responding to the needs of different health literacy groups and (4) recommendations to address low health literacy in radiotherapy. Radiation therapists appeared to make an informal, intuitive judgment about a patient’s health literacy, using a variety of verbal and non-verbal cues as well as impromptu conversations with the multi-disciplinary team. Patients perceived to have lower health literacy were described as having greater difficulties assimilating knowledge and engaging in self-care. Although participants reported communicating to patients at a basic level initially, they subsequently tailored their communication to match a patient’s health literacy. Strategies reported to communicate to low health literacy groups ranged from using lay language with minimal medical terminology, using visual aids (photos), using analogies, reiterating information and asking family members with higher literacy to attend consultations.ConclusionA more structured approach to supporting patients with low health literacy and integrating health literacy training in radiation oncology departments may help to minimise the adverse outcomes typically experienced by this population.

Perceptions of melanoma risk among Australian adolescents: barriers to sun protection and recommendations for improvement

Objectives: To explore adolescents’ perceptions of melanoma risk, sun protection intervention preferences and perceived barriers to sun protection recommendations.