Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma

Abstract

Background Germline genetic testing currently is recommended for patients with pancreatic ductal adenocarcinoma (PDAC). In the current study, the authors assessed how often results are communicated to first‐degree relatives within 3 months and the emotional impact of testing on patients. Methods A total of 148 patients who were newly diagnosed with PDAC and who had undergone testing of 32 cancer susceptibility genes at 3 academic centers were selected; 71% participated. Subjects completed the Multidimensional Impact of Cancer Risk Assessment (MICRA) and a family communication survey. The results of both surveys were assessed at 3 months according to the genetic test result (positive, negative, or variant of unknown significance [VUS]) and whether a patient met criteria for genetic testing. Results A total of 99 patients completed the MICRA survey and 104 completed the family communication survey. The average age of the patients was 67 years, 47% were female, 29% had stage III/IV (AJCC 8th edition) disease, and 42% met genetic testing criteria. Approximately 80% of patients told at least 1 first‐degree relative about their result. There was a trend toward greater disclosure among patients who tested positive (93% vs 77% for those with a VUS result [P = .149] and 74% for those who tested negative [P = .069]). Patients not meeting genetic testing criteria were less likely to disclose results (69% vs 93%; P = .003). MICRA scores did not differ by test result, age, stage of disease, or sex. Conclusions The rate of result communication was high, although it was lower among patients who did not meet genetic testing criteria, those who tested negative, or those who had a VUS result. Testing‐associated distress was similar across patient groups, and was comparable to that reported by other patients with cancer. Improved communication for all patients is crucial given the prognosis of PDAC, which limits time for disclosure.

Motivation and family communication in hereditary prostate cancer genetic testing: Survey of patients from a US tertiary medical center

“…Our research demonstrates that most patients share their genetic test results with at least one relative, which is consistent with previous literature (Cheung et al, 2010; Peters et al, 2019; Stoffel et al, 2008). Similar to Peters et al (2019), the current study found that patients aged ≤65 years shared their genetic test results with at least one relative at a higher rate than older adults (>65 years), but the difference did not reach significance in either study (Peters et al, 2019).…”

“…Participants were asked to select which categories of relatives they shared information about their cancer diagnosis and genetic test results with, including first‐, second‐, and third‐degree relatives. The survey items were developed by the study team based on the existing literature and their collective clinical experience as genetic counselors (Balmaña et al, 2004; Bouhnik et al, 2017; Katz et al, 2016; Manchanda et al, 2019; Peters et al, 2019; Stoffel et al, 2008).…”

“…A variety of factors are associated with decision‐making about genetic testing and the subsequent communication of genetic test results to family members. Such factors include the demographics of both the proband and relatives (age, sex, marital status, ethnicity, race, and education level), family dynamics (communication patterns, degree of relation, geographic barriers, and emotional connection), health status of the proband and relative, as well as the supportive role of healthcare providers (Armstrong et al, 2000; Balmaña et al, 2004; Bradbury et al, 2012; Cheung et al, 2010; Chivers Seymour et al, 2010; Elrick et al, 2017; Fehniger et al, 2013; Finlay et al, 2008; Hallowell et al, 2002, 2005; Hesse‐Biber & An, 2017; Leenen et al, 2016; Liede et al, 2000; McGivern et al, 2004; Metcalfe et al, 2000; Patenaude et al, 2006; Peters et al, 2019; Wiseman et al, 2010; Young et al, 2019).…”

Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing

“…Although probands may be reluctant to share their GT results due to perceived stigma or lack of understanding, we found that GT results were transmitted to 84% of FDRs. This rate is similar to that reported by Peters et al ,37 who found that among patients with PGAs, GT results were disclosed to 79% of FDRs. In contrast, only 31% of informed FDRs subsequently underwent GT, and there was minimal uptake of cascade testing among second-degree relatives (n=4).…”

Cancer surveillance awareness and practice among families at increased risk for pancreatic adenocarcinoma

“…In high‐risk families identified through a proband with PDAC, the surveillance status of at‐risk relatives was unknown 45% of the time, compared with 18% unknown status in families identified through an unaffected proband, highlighting potential communication challenges for this group. A recent study of patients with PDAC who underwent genetic testing found that 57% shared their genetic test results with first‐degree relatives, and that patients not meeting prior genetic testing criteria based on cancer family history were less likely to disclose a positive result (69% vs 93%) 30 . A study of communication between patients with cancer and family members found that more than half of patients identified a different family member as the main communicator of health information in their family, suggesting that assisting cancer patients in identifying and empowering a family health informant may be a useful step to improving communication interventions 31 .…”