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

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

doi:10.3390/cancers14041059

Abstract

Simple SummaryGermline genetic testing for patients with cancer can have important implications for treatment, preventive options, and for family members. In a mainstream genetic testing pathway, pre-test counseling is performed by non-genetic healthcare professionals, thereby making genetic testing more accessible to all patients who might benefit from it. These mainstream genetic testing pathways are being implemented in different hospitals around the world, and for different cancer types. It is important to evaluate how a mainstream genetic testing pathway can be made sustainable and if quality of genetic care is maintained. We show in this systematic review that it is feasible to incorporate a mainstream genetic testing pathway into routine cancer care while maintaining quality of care. A training procedure for non-genetic healthcare professionals and a close collaboration between genetics and other clinical departments are highly recommended to ensure sustainability.Background: Non-genetic healthcare professionals can provide pre-test counseling and order germline genetic tests themselves, which is called mainstream genetic testing. In this systematic review, we determined whether mainstream genetic testing was feasible in daily practice while maintaining quality of genetic care. Methods: PubMed, Embase, CINAHL, and PsychINFO were searched for articles describing mainstream genetic testing initiatives in cancer care. Results: Seventeen articles, reporting on 15 studies, met the inclusion criteria. Non-genetic healthcare professionals concluded that mainstream genetic testing was possible within the timeframe of a routine consultation. In 14 studies, non-genetic healthcare professionals completed some form of training about genetics. When referral was coordinated by a genetics team, the majority of patients carrying a pathogenic variant were seen for post-test counseling by genetic healthcare professionals. The number of days between cancer diagnosis and test result disclosure was always lower in the mainstream genetic testing pathway than in the standard genetic testing pathway (e.g., pre-test counseling at genetics department). Conclusions: Mainstream genetic testing seems feasible in daily practice with no insurmountable barriers. A structured pathway with a training procedure is desirable, as well as a close collaboration between genetics and other clinical departments.

Highlights

The use of germline genetic tests in cancer care is changing rapidly
Poly (ADP-ribose) polymerase (PARP) inhibitors can be used in the treatment of patients with ovarian, breast, or prostate cancer, and they are especially beneficial for patients carrying a germline or somatic pathogenic variant in a BRCA gene [4,5,6]
We considered the study of George et al [7], published in 2016, to be the first key paper on mainstream genetic testing, and we searched for studies that were published from 2013 onwards, because it is unlikely that earlier mainstream genetic testing initiatives exist

Summary

Introduction

The use of germline genetic tests in cancer care is changing rapidly. Gene panel testing is increasingly being used instead of single gene testing, and the criteria for genetic testing have been broadened in several types of cancer [1,2,3]. Poly (ADP-ribose) polymerase (PARP) inhibitors can be used in the treatment of patients with ovarian, breast, or prostate cancer, and they are especially beneficial for patients carrying a germline or somatic pathogenic variant in a BRCA gene [4,5,6] These changes in genetic testing and care, together with the growing numbers of eligible patients who can benefit from genetic testing and the limited capacity of the genetics departments to meet the needs of the increasing numbers of patients, have paved the way for mainstream genetic testing. In a mainstream genetic testing pathway, non-genetic healthcare professionals (NGHCPs) provide pre-test counseling (e.g., review cancer family history, discuss possible implications of a genetic test) and order the genetic test after obtaining informed consent These NGHCPs are not formally trained as genetic counselors or clinical geneticists. A structured pathway with a training procedure is desirable, as well as a close collaboration between genetics and other clinical departments

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Discussion

Conclusion