. 2022 Oct 19;12(10):1740.

doi: 10.3390/jpm12101740.

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

Mahesh Sarki¹, Chang Ming¹, Monica Aceti¹, Günther Fink², Souria Aissaoui^{3

4}, Nicole Bürki⁵, Rossella Graffeo⁶, Karl Heinimann^{7

8}, Maria Caiata Zufferey⁹, Christian Monnerat¹⁰, Manuela Rabaglio¹¹, Ursina Zürrer-Härdi¹², Pierre O Chappuis^{13

14}, Maria C Katapodi¹, The Cascade Consortium

Affiliations

¹ Department of Clinical Research, University of Basel, 4055 Basel, Switzerland.
² Swiss Tropical and Public Health Institute, University of Basel, 4123 Allschwil, Switzerland.
³ Breast Center, Cantonal Hospital Fribourg, 1752 Fribourg, Switzerland.
⁴ GENESUPPORT, The Breast Centre, Hirslanden Clinique de Grangettes, 1224 Geneva, Switzerland.
⁵ Women's Clinic, University Hospital Basel, 4031 Basel, Switzerland.
⁶ EOC, Oncology Institute of Southern Switzerland (IOSI), 6500 Bellinzona, Switzerland.
⁷ Institute for Medical Genetics and Pathology, University Hospital Basel, 4031 Basel, Switzerland.
⁸ Research Group Human Genomics, Department of Biomedicine, University of Basel, 4031 Basel, Switzerland.
⁹ Department of Business Economics, Health and Social Care, University of Applied Sciences and Arts of Southern Switzerland, 6928 Manno, Switzerland.
¹⁰ Department of Medical Oncology, Hospital of Jura, 2800 Delemont, Switzerland.
¹¹ Department of Medical Oncology, Inselspital, Bern University Hospital, 3010 Bern, Switzerland.
¹² Department of Medical Oncology, Cantonal Hospital Winterthur, 8400 Winterthur, Switzerland.
¹³ Unit of Oncogenetics, Division of Oncology, University Hospitals of Geneva, 1205 Geneva, Switzerland.
¹⁴ Division of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.

PMID: 36294879
PMCID: PMC9605198
DOI: 10.3390/jpm12101740

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

Mahesh Sarki et al. J Pers Med. 2022.

. 2022 Oct 19;12(10):1740.

doi: 10.3390/jpm12101740.

Authors

Affiliations

¹ Department of Clinical Research, University of Basel, 4055 Basel, Switzerland.
² Swiss Tropical and Public Health Institute, University of Basel, 4123 Allschwil, Switzerland.
³ Breast Center, Cantonal Hospital Fribourg, 1752 Fribourg, Switzerland.
⁴ GENESUPPORT, The Breast Centre, Hirslanden Clinique de Grangettes, 1224 Geneva, Switzerland.
⁵ Women's Clinic, University Hospital Basel, 4031 Basel, Switzerland.
⁶ EOC, Oncology Institute of Southern Switzerland (IOSI), 6500 Bellinzona, Switzerland.
⁷ Institute for Medical Genetics and Pathology, University Hospital Basel, 4031 Basel, Switzerland.
⁸ Research Group Human Genomics, Department of Biomedicine, University of Basel, 4031 Basel, Switzerland.
⁹ Department of Business Economics, Health and Social Care, University of Applied Sciences and Arts of Southern Switzerland, 6928 Manno, Switzerland.
¹⁰ Department of Medical Oncology, Hospital of Jura, 2800 Delemont, Switzerland.
¹¹ Department of Medical Oncology, Inselspital, Bern University Hospital, 3010 Bern, Switzerland.
¹² Department of Medical Oncology, Cantonal Hospital Winterthur, 8400 Winterthur, Switzerland.
¹³ Unit of Oncogenetics, Division of Oncology, University Hospitals of Geneva, 1205 Geneva, Switzerland.
¹⁴ Division of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.

PMID: 36294879
PMCID: PMC9605198
DOI: 10.3390/jpm12101740

Abstract

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.

Keywords: HBOC; barriers to genetic care; cascade genetic screening; healthcare system; relatives.

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Conflict of interest statement

The authors do not have any conflict of interest.

Figures

**Figure 1**
Recruitment of relatives from hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) families.

**Figure 2**
Reasons for not having genetic testing reported by the GT (−) group (n = 44) according to sex (female = 20 and male = 24).

**Figure 3**
Reasons for having genetic testing reported from the GT (+) group (n = 71) according to sex (female = 58 and male = 13).

See this image and copyright information in PMC

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

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

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