Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives

Salikhanov, Islam; Heinimann, Karl; Chappuis, Pierre O.; Bürki, Nicole; Graffeo, Rossella; Heinzelmann, Viola; Rabaglio, Manuela; Taborelli, Monica; Wieser, Simon; Katapodi, Maria C.

doi:10.1136/jmedgenet-2021-108062

Cited by 19 publications

(15 citation statements)

References 48 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Finally, a few untested relatives mentioned the lack of insurance coverage as a reason for forgoing cascade testing. Basic health insurance in Switzerland does not cover the cost of cascade testing for SDR and TDR [ 56 ]. Given that approximately half of the non-invited relatives in the CASCADE cohort are SDR and TDR [ 35 ], out-of-pocket costs (about CHF 400 or USD 410) could be a barrier for the approximately 27% of untested SDR and TDR in the study.…”

Section: Discussionmentioning

confidence: 99%

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort

Sarki¹,

Ming²,

Aceti³

et al. 2022

JPM

View full text Add to dashboard Cite

Cascade genetic testing of relatives from families with pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) has important implications for cancer prevention. We compared the characteristics of relatives from HBOC or LS families who did not have genetic testing (GT (−) group) with those who had genetic testing (GT (+) group), regardless of the outcome. Self-administered surveys collected cross-sectional data between September 2017 and December 2021 from relatives participating in the CASCADE cohort. We used multivariable logistic regression with LASSO variable selection. Among n = 115 relatives who completed the baseline survey, 38% (n = 44) were in the GT (−) group. Being male (OR: 2.79, 95% CI: 1.10–7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03–19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55–0.92). Reasons for forgoing cascade testing were: lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs. Multilevel interventions designed to increase awareness about clinical implications of HBOC and LS in males, referrals from non-specialists, and support for testing multiple family members could improve the uptake of cascade testing.

show abstract

Section: Discussionmentioning

confidence: 99%

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort

Sarki¹,

Ming²,

Aceti³

et al. 2022

JPM

View full text Add to dashboard Cite

show abstract

“…Cascade screening for monogenic actionable (Tier 1) conditions can reduce the risk of adverse health outcomes in entire cohorts of relatives [ 8 ]. It is a cost-effective approach for identifying at-risk individuals, especially in young, unaffected relatives [ 9 , 10 , 11 ]. Monitoring variant-harboring families provides important information for planning adequate quantity and quality of services and long-term coordination of cancer care [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort

Sarki

Ming

Aissaoui

et al. 2022

Cancers

Self Cite

View full text Add to dashboard Cite

Cascade screening for Tier 1 cancer genetic conditions is a significant public health intervention because it identifies untested relatives of individuals known to carry pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). The Swiss CASCADE is a family-based, open-ended cohort, including carriers of HBOC- and LS-associated pathogenic variants and their relatives. This paper describes rates of cascade screening in relatives from HBOC- and LS- harboring families, examines carriers’ preferences for communication of testing results, and describes theory-based predictors of intention to invite relatives to a cascade screening program. Information has been provided by 304 index cases and 115 relatives recruited from September 2017 to December 2021. On average, 10 relatives per index case were potentially eligible for cascade screening. Approximately 65% of respondents wanted to invite relatives to the cohort, and approximately 50% indicated a preference for patient-mediated communication of testing results, possibly with the assistance of digital technology. Intention to invite relatives was higher for first- compared to second- and third-degree relatives, but was not different between syndromes or based on relatives’ gender. The family environment and carrying pathogenic variants predicts intention to invite relatives. Information helps optimize delivery of tailored genetic services.

show abstract

“… 5 LS patients have an accelerated pathway to carcinogenesis compared to the general population. 14 Colonoscopy reduces the incidence and mortality associated with CRC in LS. 15 As CRC risk is gene-specific, with earlier age diagnoses with higher risk genotypes, colorectal surveillance with routine colonoscopy every 2 years should start at 25 years for MLH1 and MSH2 carriers or at 35 years for MSH6 and PMS2 gene carriers.…”

Section: Cancer Risk Reductionmentioning

confidence: 99%

A Focused Clinical Review of Lynch Syndrome

Georgiou¹,

Monje-Garcia²,

Miles³

et al. 2023

CMAR

View full text Add to dashboard Cite

Lynch syndrome (LS) is an autosomal dominant condition that increases an individual’s risk of a constellation of cancers. LS is defined when an individual has inherited pathogenic variants in the mismatch repair genes. Currently, most people with LS are undiagnosed. Early detection of LS is vital as those with LS can be enrolled in cancer reduction strategies through chemoprophylaxis, risk reducing surgery and cancer surveillance. However, these interventions are often invasive and require refinement. Furthermore, not all LS associated cancers are currently amenable to surveillance. Historically only those with a strong family history suggestive of LS were offered testing; this has proved far too restrictive. New criteria for testing have recently been introduced including the universal screening for LS in associated cancers. This has increased the number of people being diagnosed with LS but has also brought about unique challenges such as when to consent for germline testing and questions over how and who should carry out the consent. The results of germline testing for LS can be complicated and the diagnostic pathway is not always clear. Furthermore, by testing only those with cancer for LS we fail to identify these individuals before they develop potentially fatal pathology. This review will outline these challenges and explore solutions. Furthermore, we consider the potential future of LS care and the related treatments and interventions which are the current focus of research.

show abstract

Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives

Cited by 19 publications

References 48 publications

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort

Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort

A Focused Clinical Review of Lynch Syndrome

Contact Info

Product

Resources

About