A duty to recontact in genetics: context matters

Giesbertz, Noor A. A.; Harten, Wim H. van; Bredenoord, Annelien L.

doi:10.1038/s41576-019-0121-7

Cited by 21 publications

(16 citation statements)

References 8 publications

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“…Other clinical characteristics (receptor status) of the identified PV carriers are in line with previous finding [21,22]. Although the advantages and disadvantages of recontacting counselees for additional genetic tests have been described earlier, there are no recommendations or policies as of yet [23,24]. In general, there is a lack of consensus about when and whether a genetic counselor has a duty to recontact patients upon the availability of tests for newly discovered genetic PVs [23][24][25].…”

Section: Discussionsupporting

confidence: 57%

“…Although the advantages and disadvantages of recontacting counselees for additional genetic tests have been described earlier, there are no recommendations or policies as of yet [23,24]. In general, there is a lack of consensus about when and whether a genetic counselor has a duty to recontact patients upon the availability of tests for newly discovered genetic PVs [23][24][25]. Practical obstacles to recontacting are the feasibility of such an effort, including out-of-date contact information and limited resources, both in capacity and financially.…”

Section: Discussionmentioning

confidence: 99%

“…There was a concern about the potential negative psychosocial consequences of our approach as women may not want to be reminded of their illness and of the consequences the test results might have for herself and her family members [23,25,34]. Giesbertz et al (2019) suggested that practical guidelines are needed to weigh the arguments in favor or against recontacting [23]. Our findings suggest that the women recontacted for additional genetic testing appreciated our effort and that the written information was sufficient to make an informed decision about the additional CHEK2 testing regardless of the test result and the possible anxiety it caused.…”

Section: Discussionmentioning

confidence: 99%

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Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

Velthuizen

Luijt

Vries

et al. 2021

Hered Cancer Clin Pract

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Background CHEK2 has been recognized as a breast cancer risk gene with moderate effect. Women who have previously tested negative for a BRCA1/2 gene germline pathogenic variant may benefit from additional genetic testing for the CHEK2 c.1100del pathogenic variant. The aims of this study were: 1) to assess the uptake of an active approach by recontacting BRCA1/2-negative women for additional CHEK2 c.1100del testing on stored DNA-samples and 2) to explore patients’ experiences with this approach. Methods Between 2015 and 2017, women who had been tested earlier negative for BRCA1/2 germline pathogenic variants, were recontacted for additional CHEK2 c.1100del testing on stored DNA-samples, free-of-charge. They received an information letter about the CHEK2 pathogenic variant and could return an informed consent form when they opted for additional genetic testing. Those in whom the CHEK2 pathogenic variant was absent, received a letter describing this result. Those who tested positive, were invited for a personal counseling at the department of genetics. On average 21 months (range 4–27) after the genetic test result, a questionnaire was sent to all identified carriers and a control group of women who tested negative for the pathogenic variant to explore patients’ experiences with our approach. Results In total, 70% (N = 1666) of the N = 2377 women contacted opted for additional testing, and 66 (4%) of them proved to be carriers of the CHEK2 c.1100del pathogenic variant. Regardless of the outcome of the genetic test, women were generally satisfied with our approach and reported that the written information was sufficient to make an informed decision about the additional CHEK2 testing. Conclusions The uptake (70%) of our approach was considered satisfactory. Patients considered the benefits more important than the psychosocial burden. Given the rapid developments in DNA-diagnostics, our findings may support future initiatives to recontact patients about additional genetic testing when they previously tested negative for a pathogenic variant in a breast cancer gene.

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Section: Discussionsupporting

confidence: 57%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

Velthuizen

Luijt

Vries

et al. 2021

Hered Cancer Clin Pract

View full text Add to dashboard Cite

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“…There is ongoing discussion among providers to reach consensus on re-contact procedures related to new genetic discoveries [49]. Arguments in favor of provider re-contact with new genetic information include the respect for patients' autonomy and beneficence, while arguments against include the idea that re-contact is the patient's responsibility and that re-contact is not feasible [50,51]. There is importance in accounting for patients' re-contact preferences within future discussions about recontact protocols as our results demonstrate that patients are expectant of their providers to provide them with this information.…”

Section: Discussionmentioning

confidence: 99%

“I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants

et al. 2021

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Little is known about what uncertainties patients experience after being identified to carry a pathogenic variant in a moderate-risk cancer gene as a result of undergoing multigene panel testing for cancer susceptibility. Data regarding cancer risk estimates and effectiveness of risk management strategies for these variants continues to evolve, which has the potential to evoke uncertainty. Acknowledging uncertainty during pre-and post-test discussions is imperative to helping individuals to adapt to their results. A better understanding of this population's experience of uncertainty is needed to facilitate such discussions and is the aim of the current study. Semi-structured interviews (30-60 min in length), informed by Han and colleagues' taxonomy of uncertainty in clinical genomic sequencing, were conducted to assess motivations to pursue genetic testing, areas of perceived uncertainty, and strategies for managing uncertainty among 20 carriers of pathogenic variants in two moderate-risk genes, ATM and CHEK2. We found that participants pursue genetic testing with the expectation that results will clarify cancer risks and approaches to management. Participants experience uncertainties aligning with Han's taxonomy relating to the ambiguity of specific cancer risk estimates and effectiveness of certain risk management strategies. These uncertainties influenced decisions around the uptake of risk management strategies, which were additionally impacted by clinicians' uncertainty towards such strategies. Participants employ a variety of uncertainty management approaches to cope with their anxieties. Clinicians may wish to use these findings to facilitate patient adaptation to the implications of multigene panel testing for cancer susceptibility during both pre-and post-test counseling sessions.

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“…The changing nature of genetic knowledge can have important consequences for patients who have had genetic testing in the past, as new information on genetic variants may affect their clinical management. It has been investigated extensively when and how patients need to be recontacted when new genetic information becomes available, both in clinical and in research contexts ([5, 14, 15, 21]; Carrieri et al 2019 [29]; David et al 2019 [7, 12, 24];). However, the issue of how to handle the changing nature of genetic information in a laboratory setting is significantly underexplored [33], despite it being the first stage at which changes in genetic information are identified and managed.…”

Section: Introductionmentioning

confidence: 99%

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

et al. 2019

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BackgroundIn recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to the advent of next-generation sequencing. This influx of genomic information leads to continuous changes in knowledge on how genetic variants relate to hereditary disease. These changes can have important consequences for patients who have had genetic testing in the past, as new information may affect their clinical management. When and how patients should be recontacted after new genetic information becomes available has been investigated extensively. However, the issue of how to handle the changing nature of genetic information remains underexplored in a laboratory setting, despite it being the first stage at which changes in genetic data are identified and managed.MethodsThe authors organized a 7-day online focus group discussion. Fifteen clinical laboratory geneticists took part. All (nine) Dutch clinical molecular genetics diagnostic laboratories were represented.ResultsLaboratories in our study reinterpret genetic variants reactively, e.g. at the request of a clinician or following identification of a previously classified variant in a new patient. Participants currently deemed active, periodic reinterpretation to be unfeasible and opinions differed on whether it is desirable, particularly regarding patient autonomy and the main responsibilities of the laboratory. The efficacy of reinterpretation was questioned in the presence of other strategies, such as reanalysis and resequencing of DNA. Despite absence of formal policy regarding when to issue a new report for clinicians due to reclassified genetic data, participants indicated similar practice across all laboratories. However, practice differed significantly between laboratory geneticists regarding the reporting of VUS reclassifications.ConclusionBased on the results, the authors formulated five challenges needing to be addressed in future laboratory guidelines: 1. Should active reinterpretation of variants be conducted by the laboratory as a routine practice? 2. How does reinterpretation initiated by the laboratory relate to patient expectations and consent? 3. When should reinterpreted data be considered clinically significant and communicated from laboratory to clinician? 4. Should reinterpretation, reanalysis or a new test be conducted? 5. How are reclassifications perceived and how might this affect laboratory practice?

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A duty to recontact in genetics: context matters

Cited by 21 publications

References 8 publications

Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences

“I wish that there was more info”: characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists

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