The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care—A Systematic Review

Bokkers, Kyra; Vlaming, Michiel; Engelhardt, Ellen G.; Zweemer, Ronald P.; Oort, Inge M. van; Kiemeney, Lambertus A.; Bleiker, Eveline M. A.; Ausems, Margreet G. E. M.

doi:10.3390/cancers14041059

Cited by 37 publications

(35 citation statements)

References 54 publications

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“…For example, the Dutch have successfully achieved nationwide screening for familial hypercholesterolemia (FH), another Tier 1 genetic condition, with nearly 90% of FH cases having most of their FDR successfully screened through a provider-mediated invitation [ 51 ]. The Dutch model provides useful information for the implementation of cascade screening programs in high healthcare-spending countries, including Switzerland, and suggests provider-mediated invitations to HBOC- and LS-cascade testing programs, following mainstream cancer-related genetic testing [ 52 , 53 ].…”

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

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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.

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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

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“…Since this seminal study in ovarian cancer, the principles have been reproduced with similar positive outcomes, 49 with transferability and scalability in breast and BRCA testing 50 to the endometrial pathway 10 looking at Lynch testing, with a systematic review addressing the feasibility of implementing mainstreaming germline genetic testing in cancer care 51 supporting these outcomes.…”

Section: Mainstreaming V Traditional Modelmentioning

confidence: 99%

A Focused Clinical Review of Lynch Syndrome

Georgiou¹,

Monje-Garcia²,

Miles³

et al. 2023

CMAR

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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.

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“…As poly(ADP-ribose) polymerase (PARP) inhibitors are expected to be used more frequently in the future, 4 the need for genetic testing by medical oncologists is also expected to increase and future studies should focus on their experiences. Taking into account the various barriers and facilitators, 5 mainstreaming initiatives may be a valuable adaptation in making germline genetic testing accessible to all eligible breast cancer patients. In addition, the experiences from these healthcare professionals provide valuable insights for mainstream genetic testing for other types of cancer.…”

Section: Futurementioning

confidence: 99%

ASO Author Reflections: The Role of Surgeons and Nurse Specialists in the Mainstreaming of Genetic Testing for Breast Cancer Patients

Bokkers

Ausems

2023

Ann Surg Oncol

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PASTGermline genetic testing of patients with breast cancer provides valuable information for patients and family members; however, currently not all patients eligible for genetic testing are being tested. 1 Mainstream genetic testing is one initiative to address the imbalance between need and supply of genetic testing. In a mainstreaming pathway, nongenetic healthcare professionals, such as surgeons and nurses, provide pre-test genetic counseling. 2 For a pathway to be sustainable, it is important that these nongenetic healthcare professionals feel confident and capable to provide pre-test genetic counseling themselves. Thus far, experiences have been evaluated primarily for healthcare professionals working in ovarian cancer care.

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The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care—A Systematic Review

Cited by 37 publications

References 54 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

A Focused Clinical Review of Lynch Syndrome

ASO Author Reflections: The Role of Surgeons and Nurse Specialists in the Mainstreaming of Genetic Testing for Breast Cancer Patients

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