Analysis of patient reports on the referral process to two NSW cancer genetic services

Abstract

To evaluate trends and associations surrounding patient referral to cancer genetics services in NSW. The specific aims of the questionnaire used to collect information were to: (1) quantify the types of cancers being referred, (2) identify the source of referral for the patients, (3) categorise the referral as being either sought by the patient or suggested by the doctor, (4) quantify how often family history was asked, (5) determine who first raised the topic of family history, (6) identify any discouragement faced by patients, (7) clarify the cancer status of patients referred. A comparative patient-reported study was carried out using a questionnaire as the data collection tool in structured short interviews. The questions were aimed at eliciting the patient's understanding of why they were referred to the clinic, whether family history was discussed at the time of referral and who raised the issue via a series of YES/NO and open response questions. Data were collected from March 2012 to August 2012 from two different clinics, St Vincent's Hereditary Cancer Clinic, Sydney and the Hunter Family Cancer Service, Newcastle-both in New South Wales, Australia. Written consent was obtained. The study found that specialists were responsible for the majority of the 150 referrals and were more likely to be proactive in referring, as opposed to GPs (Phi and Cramer's V test). Patients reported that at the time of referral their family history was not asked in 13.5 % of cases, despite being significant. In the 131 cases where family history was discussed, it was the patient on approximately 2 in 5 occasions that brought up the topic. The most common types of cancer seen were breast cancer and colorectal. At both services GP referrals were more common then specialist referrals. On three occasions patients sought referral after being notified that the bloods they had collected by their GP for genetic testing were held by the laboratory due to failure to follow protocol. Six patients reported being discouraged to attend when seeking a referral. At the time of referral 58.7 % of patients were considered to be without cancer. Overall, 20 % of patients requested their referral to the cancer genetics clinics. The discussion of family history in the context of familial cancer is key to accurate risk assessment and management advice. Further education of doctors is required as evidenced by the number of patients where family history was not asked and in those patients who had bloods collected by their GP without counselling.

Factors associated with genetic counseling and BRCA testing in a population-based sample of young Black women with breast cancer

“…On the other hand, in contrast to a recent study [31], family history of cancer does not appear to strongly influence referral practices of healthcare providers in our study. Despite this conflicting finding, our results are consistent with studies that suggest inadequate elicitation and documentation of cancer family history in medical records [16,32,33]. Our finding that those patients with a college education were more likely than those without a college education to report receiving a referral for genetic counseling is consistent with findings from other studies [24,34] and could be the result of several possibilities including: 1) healthcare providers may be more likely to refer college educated patients than those with lower educational attainment, 2) healthcare providers who treat more highly educated patients may be more likely to refer their patients compared to those healthcare providers who treat patients with lower educational attainment, and 3) patients with higher education may be more aware of HBOC and/or more likely to bring this up with their healthcare provider and request a referral even though all of the women in this study would have been eligible for GC based on national guidelines.…”

Factors influencing uptake of familial long QT syndrome genetic testing

“…Given access is largely dependent upon referral from cardiologists or general/primary care practitioners, greater professional education may be needed and may improve the issues of access described in this cohort, as has been shown in the setting of familial cancer syndromes [Butel‐Simoes and Spigelman, ; Teng and Spigelman, ]. In cardiac genetics, van Langen et al [] showed knowledge of Dutch cardiologists moving into the genomics era was insufficient and proposed improvements through advancement of education and professional guidelines.…”

Adherence to referral guidelines

“…However, there is no cost for genetic services for those with a BRCA mutation risk of ⩾10 per cent in Australia, which includes all guideline-eligible patients, contributing to higher rates of uptake. Other identified barriers to physician referral include variability in referral guidelines or recommendations over time, however, in our cohort the odds for referral were unaffected by the guideline change in 2016 (Teng and Spigelman, 2014; Butel-Simoes and Spigelman, 2014; Hampel, 2004).…”

“…Although a definite under-referral rate exists in the cohort examined in this study, referral rates to genetic counselling services were more promising than that observed in the literature. Barriers to referral have been enumerated in previous studies, with financial cost consistently mentioned (Teng and Spigelman, 2014; Butel-Simoes and Spigelman, 2014; Rolnick et al , 2011; Kne et al , 2017). However, there is no cost for genetic services for those with a BRCA mutation risk of ⩾10 per cent in Australia, which includes all guideline-eligible patients, contributing to higher rates of uptake.…”

“…Rates of genetic testing for high risk individuals more broadly have been examined in America, with similarly low results reported, ranging from 24 to 44 per cent (Stuckey et al , 2016; Brown et al , 2005; Ruddy et al , 2010). Although there are both physician and patient-related barriers to referral, such as perceived psychological distress, lack of benefit and discrimination, physician referral remains one of the most important factors in patient compliance for genetic testing (Rapiti et al , 2017; Teng and Spigelman, 2014; Butel-Simoes and Spigelman, 2014). It is upon this understanding and the paucity in data evident in the Australian setting, that this study aims to examine the adherence to referral guidelines for BRCA gene testing in the TNBC cohort.…”