Barriers and facilitators for cascade testing in genetic conditions: a systematic review

Srinivasan, Swetha; Won, Nae; Dotson, W. David; Wright, Sarah Towner; Roberts, Megan C.

doi:10.1038/s41431-020-00725-5

Cited by 79 publications

(57 citation statements)

References 43 publications

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“…As a result, this cohort consists of small numbers in some patient categories and tumor combinations, especially among males. Undertesting or underutilization of germline genetic testing among adult males is well established, 31‐36 and this cohort reflects this testing bias. Next, these analyses were limited to 21 well‐established cancer predisposition genes, and it is possible that if we evaluated more genes, such as those associated with cancers common to males and females (eg, BAP1 , CDKN2A , FH , MITF , POT1 , SDHB , TERT , and VHL ), more pronounced differences in sex‐specific PV frequencies would be evident.…”

Section: Discussionmentioning

confidence: 97%

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

Bychkovsky

Yussuf

et al. 2021

Cancer

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Background Multiple primary cancers (MPCs) are a hallmark of cancer predisposition syndromes. Here the frequency of germline pathogenic variants (PVs) among patients with MPCs is reported. Methods Patients with MPCs who underwent multigene panel testing from March 2012 to December 2016 were studied. Eligible patients had an analysis of 21 genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, and TP53. The frequencies of PVs by sex, number of cancers, and age at diagnosis were compared with 2‐sided χ2 tests or Fisher exact tests when the number was <10. Results Among the 9714 patients analyzed, most were female (91.1%) and White (71.0%); the median age at testing was 63 years, and the median ages at first and second cancer diagnoses were 49 and 58 years, respectively. Overall, 1320 (13.6%) had PVs. The prevalence of PVs increased with the number of primary cancers (PCs): 13.1% with 2 PCs, 15.9% with 3 PCs, and 18.0% with ≥4 PCs (P = .00056). Differences in the prevalence of PVs by age at diagnosis were significant: 14.7% with 2 PCs at an age < 50 years, 15.8% with 1 PC at an age < 50 years, and 12.0% with all PCs at an age ≥ 50 years (P = 2.07E–05). PVs by the age at second cancer diagnosis were also significant: 14.7% at an age < 50 years, 13.9% at an age of 50 to 69 years, and 11.4% at an age ≥ 70 years (P for trend = .005). Conclusions Among patients with MPCs, there is a high frequency of germline PVs, with a higher frequency found among patients with a higher number of PCs. These findings suggest that genetic testing should be considered even among patients who are older at the diagnosis of an additional primary malignancy.

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Section: Discussionmentioning

confidence: 97%

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

Bychkovsky

Yussuf

et al. 2021

Cancer

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“…Cascade testing facilitated by direct contact for genomic risk conditions has been successful in other countries, but direct contact has not been widely implemented in the U.S. and cascade testing uptake has also been slow [ 24 , 36 , 37 ] as it is met with substantial implementation barriers [ 38 ]. A recent pilot study of cascade testing for FH in primary care practices in the U.S. found an approximate 50% uptake of cascade testing by relatives, but noted limitations in data collection due to data privacy issues [ 39 ].…”

Section: Discussionmentioning

confidence: 99%

“…Chatbots may be highly useful in facilitating family communication as they address barriers to cascade testing identified at the individual, interpersonal, and environmental levels. These include suboptimal communication between patients with genetic conditions and their relatives; as well as geographic barriers to family communication, and in accessing genetic services, including genetic testing and counseling [ 38 , 43 ]. Chatbots can be used as a tool to improve communication between family members by providing scripted, factual information about FH and can also increase the accessibility of genetics education and cascade genetic testing.…”

Section: Discussionmentioning

confidence: 99%

Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study

Jones¹,

Walters²,

Brangan³

et al. 2021

JPM

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Guided by the Conceptual Model of Implementation Research, we explored the acceptability, appropriateness, and feasibility of: (1) automated screening approaches utilizing existing health data to identify those who require subsequent diagnostic evaluation for familial hypercholesterolemia (FH) and (2) family communication methods including chatbots and direct contact to communicate information about inherited risk for FH. Focus groups were conducted with 22 individuals with FH (2 groups) and 20 clinicians (3 groups). These were recorded, transcribed, and analyzed using deductive (coded to implementation outcomes) and inductive (themes based on focus group discussions) methods. All stakeholders described these initiatives as: (1) acceptable and appropriate to identify individuals with FH and communicate risk with at-risk relatives; and (2) feasible to implement in current practice. Stakeholders cited current initiatives, outside of FH (e.g., pneumonia protocols, colon cancer and breast cancer screenings), that gave them confidence for successful implementation. Stakeholders described perceived obstacles, such as nonfamiliarity with FH, that could hinder implementation and potential solutions to improve systematic uptake of these initiatives. Automated health data screening, chatbots, and direct contact approaches may be useful for patients and clinicians to improve FH diagnosis and cascade screening.

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“…Chatbots may be highly useful in facilitating family communication as they address barriers to cascade testing identified at the individual-, interpersonal-, and environmental-levels. These include suboptimal communication between patients with genetic conditions and their relatives as well as geographic barriers to family communication and in access to genetic services, including genetic testing and counseling [38,43]. Chatbots can be used as a tool to improve communication between family members by providing scripted, factual information about FH and can also increase the accessibility of genetics education and cascade genetic testing.…”

Section: Discussionmentioning

confidence: 99%

Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH study

Jones¹,

Walters²,

Brangan³

et al. 2021

Preprint

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Guided by the Conceptual Model of Implementation Research, we explored the acceptability, appropriateness, and feasibility of: 1) automated screening approaches utilizing existing health data to identify those who require subsequent diagnostic evaluation for familial hypercholesterolemia (FH) and 2) family communication methods including chatbots and direct contact to communicate information about inherited risk for FH. Focus groups were conducted with 22 individuals with FH (2 groups) and 20 clinicians (3 groups). These were recorded, transcribed, and analyzed using deductive (coded to implementation outcomes) and inductive (themes based on focus group discussions) methods. All stakeholders described these initiatives as: 1) acceptable and appropriate to identify individuals with FH and communicate risk with at-risk relatives; and 2) feasible to implement in current practice. Stakeholders cited current initiatives, outside of FH (e.g., pneumonia protocols, colon cancer and breast cancer screenings), that gave them confidence for successful implementation. Stakeholders described perceived obstacles, such as nonfamiliarity with FH, that could hinder implementation and potential solutions to improve systematic uptake of these initiatives. Automated health data screening, chatbots, and direct contact approaches may be useful for patients and clinicians to improve FH diagnosis and cascade screening.

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Barriers and facilitators for cascade testing in genetic conditions: a systematic review

Cited by 79 publications

References 43 publications

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

Prevalence and spectrum of pathogenic variants among patients with multiple primary cancers evaluated by clinical characteristics

Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study

Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH study

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