“For All My Family's Sake, I Should Go and Find Out”: An Australian Report on Genetic Counseling and Testing Uptake in Individuals at High Risk of Breast and/or Ovarian Cancer

Abstract

Current guidelines regarding notifying individuals discovered to be at increased risk in a research, rather than clinical setting, take a largely nondirective approach. However, this study demonstrates that individuals who receive a single letter notifying them of their risk may not understand/value the information they receive.

A systematic review of factors that act as barriers to patient referral to genetic services

“…This may explain why there is significant research investigating appropriate access to cancer genetic services by all those eligible and whether the outcomes of these services are producing favourable results such as prevention of cancer. 13,15,[25][26][27][28][29][30][31][32][33][34][35][36] It was not surprising that the majority of studies focused on the role or practice of HCPs in patients' access to genetic services. The translation of new genetic information and technology into medical care is challenged by several factors, including lack of adequate genetic workforce and increased demand of specialist care in genetics, which was also reported as a barrier in this review.…”

Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer

“…We reported this as a contributing factor in a recent qualitative study including a small number of kConFab participants. 25 These findings are also echoed in international research. 26 Poor health literacy, and poor genetic literacy specifically, is an important problem.…”

“…There may be a significant time lag between when individuals become aware of their risk and when they attend clinic, with atrisk individuals commonly not attending clinic until there is a trigger (e.g., new family diagnoses/deaths and other significant events such as starting a family). 40 These triggers may, however, present too late to prevent adverse outcomes for some. It was also not possible to ascertain what proportion of nonresponsive at-risk individuals are well-informed (and making an active decision not to undergo testing) as compared with the proportion who may be making an ill-informed decision about their risk and its management.…”

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

“…9,10 Although overall uptake of receiving results was high in the Colon CFR study, Australia had the lowest uptake (56%) compared with other participating centres in the USA and Canada, where uptake was 72-86%. 8 Wakefield et al 11 found that many Australian research participants do not necessarily understand, value or act upon the information they received in the notification letter. 11 Alternatively, the lower uptake rated witnessed in Australia may be due to economic and geographical factors, such as misconceptions about the costs of genetic testing, concerns about insurance implications or the fact that clinics may be geographically distant and, therefore, difficult to attend.…”

“…8 Wakefield et al 11 found that many Australian research participants do not necessarily understand, value or act upon the information they received in the notification letter. 11 Alternatively, the lower uptake rated witnessed in Australia may be due to economic and geographical factors, such as misconceptions about the costs of genetic testing, concerns about insurance implications or the fact that clinics may be geographically distant and, therefore, difficult to attend. 8,12,13 Concern that few participants pursued genetic counselling after receiving a notification letter regarding the identification of a BRCA1/2 mutation led the Australian Kathleen Cunningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab) to implement an intensive notification system to ensure participants were adequately informed about the available genetic information.…”