Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience

Barnoy, Sivia; Dagan, Efrat; Kim, Sue; Zufferey, Maria Caiata; Katapodi, Maria C.

doi:10.3389/fgene.2023.1109431

Cited by 3 publications

(2 citation statements)

References 56 publications

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“…Addressing out-of-pocket costs and insurance barriers remove roadblocks to genomic services, especially for those who are less likely to have genetic testing due to financial barriers. In countries with national or mandatory insurance coverage (e.g., Switzerland, Korea, Israel), variations in insurance coverage may create disparities in accessing testing or potentially lifesaving risk-reducing surgeries ( Barnoy et al, 2023 ).…”

Section: Resultsmentioning

confidence: 99%

ACCESS: an empirically-based framework developed by the International Nursing CASCADE Consortium to address genomic disparities through the nursing workforce

Katapodi,

Pedrazzani,

Barnoy

et al. 2024

Front. Genet.

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Introduction: Efforts are needed across disciplines to close disparities in genomic healthcare. Nurses are the most numerous trained healthcare professionals worldwide and can play a key role in addressing disparities across the continuum of care. ACCESS is an empirically-based theoretical framework to guide clinical practice in order to ameliorate genomic disparities.Methods: The framework was developed by the International Nursing CASCADE Consortium based on evidence collected between 2005 and 2023 from individuals and families of various ethnic backgrounds, with diverse hereditary conditions, and in different healthcare systems, i.e., Israel, Korea, Switzerland, and several U.S. States. The components of the framework were validated against published scientific literature.Results: ACCESS stands for Advocating, Coping, Communication, cascadE Screening, and Surveillance. Each component is demonstrated in concrete examples of clinical practice within the scope of the nursing profession related to genomic healthcare. Key outcomes include advocacy, active coping, intrafamilial communication, cascade screening, and lifelong surveillance. Advocacy entails timely identification of at-risk individuals, facilitating referrals to specialized services, and informed decision-making for testing. Active coping enhances lifelong adaptation and management of disease risk. Effective intrafamilial communication of predisposition to hereditary disease supports cascade testing of unaffected at-risk relatives. Lifelong surveillance is essential for identifying recurrence, changes in health status, and disease trajectory for life-threatening and for life-altering conditions.Discussion: ACCESS provides a standardized, systematic, situational, and unifying guide to practice and is applicable for nursing and for other healthcare professions. When appropriately enacted it will contribute towards equitable access to genomic resources and services.

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Section: Resultsmentioning

confidence: 99%

ACCESS: an empirically-based framework developed by the International Nursing CASCADE Consortium to address genomic disparities through the nursing workforce

Katapodi,

Pedrazzani,

Barnoy

et al. 2024

Front. Genet.

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“…For healthcare professionals in the Netherlands, this guideline is the main reference for decisionmaking. Internationally, health systems and health laws vary widely, and cascade screening is the subject of ongoing discussions concerning the relative responsibilities of probands versus healthcare professionals (Barnoy et al, 2023;d'Audiffret van Haecke & de Montgolfier, 2018;Phillips et al, 2021). In most settings, the main responsibility lies with the proband and the resulting uptake of predictive testing is disappointingly low.…”

Section: Sharing Of Information and Decision-makingmentioning

confidence: 99%

Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation

Menko,

van der Velden,

Griffioen

et al. 2023

Journal of Genetic Counseling

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The uptake of genetic counseling and predictive genetic testing by family members at risk for hereditary tumor syndromes is generally below 50%. To address this issue, a new guideline was introduced in the Netherlands in 2019 that aims to improve the sharing of information within families. In addition to cascade screening supported by follow‐up telephone calls with the proband, municipal records were accessed to allow the geneticist to contact at‐risk family members directly. We evaluated this procedure in 32 families with a (likely) pathogenic germline BRCA1/BRCA2 variant diagnosed at our hospital between May 1, 2020, and July 31, 2021, comparing current uptake with outcomes achieved for 33 families diagnosed in 2014. Fifteen months after diagnostic testing of the proband, the uptake was 43% (120/277), comparable to the 44% (87/200) registered previously. Among a subgroup of women at 50% risk aged 25–75 years, 71% (47/66) were tested, comparable to an earlier uptake of 69% (59/86). Of the 34 at‐risk relatives we contacted directly, 17 (50%) underwent predictive testing. In conclusion, we found no evidence that the new procedure leads to a substantially increased uptake. Future research should be primarily aimed at understanding intrafamilial communication barriers.

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A Family-based Approach to Cascade Genetic Testing in a Pediatric Cancer Genetics Clinic

Haider,

Desrosiers-Battu,

Scollon

et al. 2024

Preprint

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Hereditary cancer predisposition disorders account for up to 10% of all pediatric cancers. Genetic counseling for families of the proband includes risk assessment and recommendations for cascade genetic testing for first degree relatives, but there is no standardized method for cascade testing in place resulting in variability in how clinics approach cascade genetic testing. We explored the uptake and outcomes associated with a family-based approach to cascade testing, for non-syndromic cancer predisposition disorders, at a pediatric cancer genetics clinic serving an ethnically diverse patient population. A retrospective chart review was conducted to evaluate test uptake in the parents and siblings of 106 pediatric probands. The study included 99 mothers, 97 fathers, 116 full siblings, and 53 half siblings who were recommended testing due to genetic risk. Of these relatives, 156 (43%) had documentation of completed cascade testing within twenty four months after the proband's result disclosure. Completion of cascade testing varied by the type of family member and degree of relatedness. Forty-one percent of mothers (41/99) were tested in comparison to 26% of fathers (26/97) and 70.6% of full siblings (82/116) were tested compared to 13.2% of half siblings (7/53). Statistical analysis using chi-squared tests revealed that siblings were more likely to have completed testing than parents (p < 0.001). Furthermore, amongst parents, mothers were more likely to complete testing than fathers (p = 0.03) and amongst siblings, full siblings were more likely to complete testing than half siblings (< 0.001). The proband’s age (p = 0.008), parents’ preferred language (p = 0.002), and interpreter use during visit (p = 0.004) were the factors associated with differences in test uptake amongst siblings, whereas the proband’s race/ethnicity (p = 0.019) was the only factor associated with differences in test uptake amongst parents. The most common barriers noted in charts for lack of test completion included country of residence, lack of insurance, and loss to follow-up. In conclusion, we found that test uptake differed significantly among relatives of a proband with siblings being more likely to test than parents. We also found differences in the demographic and clinical factors associated with test uptake in parents and siblings. Future studies need to validate these differences and further explore the underlying cause of variation in test uptake among relatives.

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Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience

Cited by 3 publications

References 56 publications

ACCESS: an empirically-based framework developed by the International Nursing CASCADE Consortium to address genomic disparities through the nursing workforce

ACCESS: an empirically-based framework developed by the International Nursing CASCADE Consortium to address genomic disparities through the nursing workforce

Does a proactive procedure lead to a higher uptake of predictive testing in families with a pathogenic BRCA1/BRCA2 variant? A family cancer clinic evaluation

A Family-based Approach to Cascade Genetic Testing in a Pediatric Cancer Genetics Clinic

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