Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis

Ahsan, Muhammad Danyal; Levi, Sarah R.; Webster, Emily; Bergeron, Hannah; Lin, Jenny; Narayan, Priyanka; Nelson, Becky Baltich; Li, Xuan; Fowlkes, Rana K.; Brewer, Jesse T.; Thomas, Charlene; Christos, Paul J.; Chapman‐Davis, Eloise; Cantillo, Evelyn; Holcomb, Kevin; Sharaf, Ravi; Frey, M.K.

doi:10.1016/j.pecinn.2023.100138

Cited by 17 publications

(8 citation statements)

References 53 publications

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“…However, choosing direct letters rather than personal communication with distant relatives was an option used by some patients in the intervention group, implying that healthcare-mediated direct contact could be useful as a complement to familymediated disclosure, especially when approaching more distant relatives. Not being in close contact or lacking contact details to a relative is a well-known barrier for probands' disclosure (15), resulting in a general lower reach to more distant relatives (4). Perhaps, different intervention approaches are needed for close and distant relatives and therefore the design of future efforts should allow for well-powered analysis on the uptake of both close and distant relatives separately.…”

Section: Discussionmentioning

confidence: 99%

Patients' perceptions and performance of informing relatives: A qualitative study within a trial on healthcare-assisted risk disclosure (DIRECT)

Salomé

Nääs

Rosén

2023

Preprint

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Current clinical practice encourages patients with hereditary cancer to inform their at-risk relatives (ARR). A Swedish multicentre randomised controlled trial - DIRECT- evaluates whether direct letters from healthcare to ARR (intervention) affects the proportion being reached compared with patient-mediated disclosure only (control). We conducted 17 semi-structured interviews on how DIRECT participants perceived and performed risk communication with ARR. Using reflexive thematic analysis, we found that participation in DIRECT played a minor role in the patients’ experience of genetic counselling and risk disclosure. No integrity-related issues were reported by patients offered disclosure support, and most accepted letters to all ARR. Risk communication was perceived as important and both groups disclosed to all close relatives themselves. However, patients’ views on their duty to inform distant relatives was unpredictable, and a variety of approaches were used, including contacting all ARR, engaging the family, vaguely relying on others to inform, and not disclosing at all. Most patients limited their responsibility to the disclosure, although others wanted relatives to get tested or provided them with continuous information before ending their mission. We also identified some confusion about implication of test results, who needed information, and who was responsible for informing ARR. These misunderstandings possibly affected the risk communication. This study gives insight how direct letters interacts with family-mediated risk disclosure. The healthcare-assisted offer could be an option to convey information to more distant relatives, but the effectiveness of such intervention needs evaluation. Results from DIRECT will be available in 2025.

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Section: Discussionmentioning

confidence: 99%

Patients' perceptions and performance of informing relatives: A qualitative study within a trial on healthcare-assisted risk disclosure (DIRECT)

Salomé

Nääs

Rosén

2023

Preprint

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“…The finding of a pathogenic variant provides an opportunity to identify at-risk relatives and initiate proactive screening and prevention; however, rates of cascade testing among at-risk relatives are persistently low. 19,24,28,29 Ongoing family communication and strategies to actively facilitate genetic testing for relatives are needed to overcome barriers. 30,31 Clinical management hinges on accurate variant classification, but variants with uncertain or conflicting interpretations are commonly identified by multigene panel testing.…”

Section: Question: How Can Clinical Oncologists Connect Patients With...mentioning

confidence: 99%

Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline Q and A

Kurian,

Bedrosian,

Kohlmann

et al. 2024

JCO Oncol Pract

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ASCO and the Society of Surgical Oncology (SSO) recently published a joint guideline to provide formal consensus-based recommendations on the role of germline mutation testing in patients with breast cancer. 48 The guideline addressedReasons not to test genes beyond BRCA1/2 might include the higher probability of a variant of uncertain significance result when more genes are tested 14 and the possibility that a patient who is

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“…One recent meta-analysis of compiled data on current established practices in family-mediated disclosure showed that about 70% of at-risk relatives are informed about hereditary risk. Of these, about 43% undergo genetic testing for the familial variant [ 9 ]. Another meta-analysis on hereditary cancer risk disclosure showed that with family-mediated disclosure, the uptake of genetic counselling in relatives is about 35%, whereas the uptake is almost doubled (63%) with a direct contact from healthcare to relatives [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer

Öfverholm,

Karlsson,

Rosén

2024

Eur J Hum Genet

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Direct contact may be an option for supporting disclosure in families with hereditary cancer risk. In this qualitative interview study, we explored how healthy at-risk relatives experience receiving a letter with information about hereditary cancer directly from healthcare rather than via a relative. The study is part of an ongoing multicentre randomised clinical trial in Sweden that evaluates the effectiveness of direct letters from cancer genetics clinics to at-risk relatives. After conducting semi-structured interviews with 14 relatives who had received a letter and contacted the clinic, we analysed the data using thematic analysis. The relatives had different levels of prior knowledge about the hereditary cancer assessment. Many had been notified by family that a letter was coming but some had not. Overall, these participants believed healthcare-mediated disclosure could complement family-mediated disclosure. They expressed that the letter and the message raised concerns and a need for counselling, and they wanted healthcare to be accessible and informed when making contact. The participants found the message easier to cope with when they had been notified by a family member beforehand, with a general attitude that notifying relatives was the appropriate step to take. They thought healthcare should help patients with the disclosure process but also guard the right of at-risk relatives to be informed. The findings support a direct approach from healthcare as a possible complement to an established model of family-mediated risk disclosure, but implementation must be made within existing frameworks of good practice for genetic counselling.

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Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis

Cited by 17 publications

References 53 publications

Patients' perceptions and performance of informing relatives: A qualitative study within a trial on healthcare-assisted risk disclosure (DIRECT)

Patients' perceptions and performance of informing relatives: A qualitative study within a trial on healthcare-assisted risk disclosure (DIRECT)

Germline Testing in Patients With Breast Cancer: ASCO-Society of Surgical Oncology Guideline Q and A

The experience of receiving a letter from a cancer genetics clinic about risk for hereditary cancer

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