Connecting patients, researchers and clinical genetics services: the experiences of participants in the Australian Ovarian Cancer Study (AOCS)

Abstract

Population-based genetic research may produce information that has clinical implications for participants and their family. Researchers notify participants or their next of kin (NoK) about the availability of genetic information via a notification letter; however, many subsequently do not contact a family cancer centre (FCC) to clarify their genetic status. Therefore, the purpose of this study was to examine research participants' experience of receiving a notification letter and the factors that influenced contact with an FCC. Twenty-five semi-structured interviews were conducted with research participants (n ¼ 10) or their NoK (n ¼ 15) who had received a notification letter following participation in the Australian Ovarian Cancer Study. There were a number of factors which impacted participants' access to genetic counselling at an FCC. Some participants had unmet information and support needs, which were addressed by their participation in this psychosocial interview study. Recruitment and participation in this study therefore inadvertently increased a number of participants' intention to contact an FCC. For others, participation in this study facilitated access to an FCC. Recommendations are proposed regarding future notification as well as implications for clinical practice. An approach that also provides opportunity to address research participants' support and informational needs before contacting a clinical genetics service as well as practical guidance for accessing genetic services would facilitate timely and smooth access for research participants who are interested in following up clinically relevant genetic test results.

Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review

“…The financial cost of genetic testing and concerns around future insurability or financial discrimination were often reported (17,24,25,31,37,44,46). The time and travel required to attend an appointment were also stated as barriers (24,28,29,31,33,37,45,47). Other logistical barriers that deterred people from attending were: GC not being recommended by a health professional (11,21), organisational barriers (26,28), or simply being unaware of the service or their eligibility for GC (11,28,45).…”

Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer

“…In reality, however, many women are still unable to access genetic testing. In Australia, geographical barriers are particularly pertinent, with approximately one-third of the population residing outside of metropolitan areas [10]. Even those living in major cities can face long wait times for appointments at overburdened familial cancer centres [10,11].…”

“…In Australia, geographical barriers are particularly pertinent, with approximately one-third of the population residing outside of metropolitan areas [10]. Even those living in major cities can face long wait times for appointments at overburdened familial cancer centres [10,11]. These access barriers are particularly critical for women with HGSOC, where treatment is potentially available based on their genetic status and timeliness of access is fundamental due to the high risk of mortality from the malignant disease.…”

Timing and context: important considerations in the return of genetic results to research participants

“…Following receipt of a notification letter, research participants may require even more support and information. This could take a number of forms including a more targeted conversation with professionally trained genetics staff who have links to the research team (Crook et al 2014).…”

“…A perception of 'genetic responsibility' has been found to be a significant factor in whether individuals opt to have genetic testing in both clinical and research populations, with those having a greater sense of responsibility and having children more likely to undergo testing (Dancyger et al 2010;Geer et al 2001;Etchegary et al 2009;Hallowell et al 2003;Hallowell 1999). Other barriers observed in Australian research populations include: a lack of understanding of the notification letter, unmet information and support needs, systemic barriers making access to clinical genetics services difficult and a time delay between giving research consent until genetic information becomes available (Wakefield et al 2011;Wakefield et al 2013;Crook et al 2014).…”