CDH1 variants leading to gastric cancer risk management decision‐making experiences in emerging adults: ‘I am not ready yet’

Abstract

Pathogenic/likely pathogenic variants (PLPV) in CDH1 are associated with a significantly increased lifetime risk for diffuse gastric cancer, with an average age of onset of 47 years. CDH1 PLPV carriers are recommended to have prophylactic total gastrectomy (PTG) or routine endoscopy surveillance. Emerging adults (EAs) may have unique circumstances that affect their medical management decision‐making about PTG versus endoscopy. The study aim was to use qualitative interpretative phenomenological analysis method to understand the lived experience and medical management decision‐making process for EAs carrying a CDH1 PLPV. Eligible participants were unaffected CDH1 PLPV carriers, ages 18 to 29, who had not undergone PTG and had discussed CDH1 medical management with a health provider. Semi‐structured telephone interviews were transcribed verbatim and analyzed for major themes. Results show EAs wanted to avoid developing diffuse gastric cancer, but most do not feel they are ready for PTG. They had worries about PTG related to their identity exploration, financial stability, and careers. Most did not want to pass the PLPV to their children; however, the cost of preimplantation genetic testing with in vitro fertilization was a concern. Family medical history and self‐understanding of endoscopy and PTG highly influenced medical management decision‐making. Understanding of diffuse gastric cancer detection rate using endoscopy was inconsistent among participants. Body image was not a concern for most, but they worry about dietary restrictions after PTG. Lastly, connection to peers having the same experience was important. These findings increase our understanding of the medical management decision‐making challenges for EA CDH1 carriers. EAs may take an extended time to decide what option is right for them. Thus, genetic counseling for CDH1 PLPV EA carriers requires long‐term support and education.

Young people’s experiences of a CDH1 pathogenic variant: Decision‐making about gastric cancer risk management

“…For some, the decision to undergo PTG was simple; their lived and familial experience of gastric cancer and gastric cancer-related deaths caused a high degree of risk aversion, and PTG was the only option they considered. This finding is incongruent with recently published findings in a similarly aged cohort in the United States of America, whereby the majority of their participants did not feel ready to pursue PTG even in the setting of lived or familial experience (Liu et al, 2021).…”

“…These participants understood the nuances and challenges of the screening procedure; however, they also described a sense of trust in the healthcare providers. The authors speculate whether the increasing confidence in endoscopic surveillance in recent years has permitted health professionals to safely offer this as a risk management option, particularly as this increase in trust in surveillance is reflected in two additional studies published within the last year (Liu et al, 2021;McGarragle et al, 2020). The downstream effect of this alters the implications for and discussions with the current patients of clinical genetics services when considering the risk management options for CDH1 PV carriers.…”

“…Only two studies have investigated decision-making regarding risk management for individuals at an increased lifetime risk of gastric cancer (Hallowell et al, 2016;Liu et al, 2021). In one of these studies, Hallowell et al, (2016) included participants aged 19-77 years (mean 40 years) and described the younger participants (those aged under 40) as having found some advantages to pursuing PTG earlier in life, such as being physically more resilient and 'having fewer social responsibilities', like children, careers, and financial obligations.…”

“…Conversely, participants were weary of potential study or career disruptions and expressed a desire to remain 'carefree' in their youth (Hallowell et al, 2016). A more recent study by Liu et al, (2021) interviewed seven young people aged 18 to 29 years with a CDH1 PV or likely PV who had not undergone PTG, and all described a lack of readiness for this surgery and a preference to defer this surgery until later in life.…”

Emerging Adults Carrying a CDH1 Pathogenic or Likely Pathogenic Variant Face Diet and Lifestyle Challenges after Total Gastrectomy

“…As reported by Liu and colleagues, 8 emerging adult CDH1 PLPV carriers expressed that dietary restrictions, nutrition implications, and lifestyle changes after PTG weigh heavily in their medical management decision making. McGarragle and colleagues 9 also reported that individuals at risk of HDGC reported lifestyle changes after total gastrectomy as a barrier to proceeding with PTG and that younger individuals reported fear of losing their good health and fitness if they were to undergo PTG.…”