Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

McCuaig, Jeanna; Armel, Susan; Care, Melanie; Volenik, Alexandra; Kim, Raymond H.; Metcalfe, Kelly

doi:10.3390/cancers10110435

Cited by 73 publications

(73 citation statements)

References 99 publications

(273 reference statements)

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“…These patient profiles could support the clinical delivery of GS by informing tailored pre-test counseling. Clinical genetics resources are already strained [24], and as GS is adopted more widely, it will be essential to determine how to use limited clinical resources efficiently [1]. Tailoring counseling to patients' preferences and individual decisional needs may reduce the time needed for consultation [25].…”

Section: Discussionmentioning

confidence: 99%

Development of patient “profiles” to tailor counseling for incidental genomic sequencing results

et al. 2019

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Guidelines recommend that providers engage patients in shared decision-making about receiving incidental results (IR) prior to genomic sequencing (GS), but this can be time-consuming, given the myriad of IR and variation in patients' preferences. We aimed to develop patient profiles to inform pre-test counseling for IR. We conducted semi-structured interviews with participants as a part of a randomized trial of the GenomicsADvISER.com, a decision aid for selecting IR. Interviews explored factors participants considered when deliberating over learning IR. Interviews were analyzed by thematic analysis and constant comparison. Participants were mostly female (28/31) and about half of them were over the age of 50 (16/31). We identified five patient profiles that reflect common contextual factors, attitudes, concerns, and perceived utility of IR. Information Enthusiasts self-identified as "planners" and valued learning most or all IR to enable planning and disease prevention because "knowledge is power". Concerned Individuals defined themselves as "anxious," and were reluctant to learn IR, anticipating negative psychological impacts from IR. Contemplators were discerning about the value and limitations of IR, weighing health benefits with the impacts of not being able to "un-know" information. Individuals of Advanced Life Stage did not consider IR relevant for themselves and primarily considered their implications for family members. Reassurance Seekers were reassured by previous negative genetic test results which shaped their expectations for receiving no IR: "hopefully [GS will] be negative, too. And then I can rest easy". These profiles could inform targeted counseling for IR by providing a framework to address common values, concerns. and misconceptions.

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Section: Discussionmentioning

confidence: 99%

Development of patient “profiles” to tailor counseling for incidental genomic sequencing results

et al. 2019

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“…However, in our study nearly all patients underwent genetic consultation, some from more than one provider type, suggesting that they did not encounter barriers to accessing genetic counseling. Several studies have reported on mechanisms for providing genetic counseling that can accommodate more patients than can traditional in‐person counseling (Arjunan et al, ; Burgess, Carmany, & Trepanier, ; McCuaig et al, ). The most common are web‐based and telegenetic counseling, both of which appear to be as effective at providing posttest education as is in‐person genetic counseling (Biesecker et al, ; Schwartz et al, ).…”

Section: Discussionmentioning

confidence: 99%

Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines

Taber

Lim‐Harashima

Naemi

et al. 2019

Molec Gen & Gen Med

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BackgroundFragile X syndrome (FXS) is the most common inherited form of intellectual disability. Many providers offer preconception or prenatal FXS carrier screening. However, guidelines recommend screening only for those with a family history or undergoing fertility evaluation. Wider screening has been resisted because of concerns about patient understanding of FXS‐associated inheritance patterns and phenotypes. Additionally, the clinical utility has been questioned.MethodsWe addressed these concerns by analyzing reproductive decision‐making and pregnancy management informed by post‐test genetic consultation among 122 FMR1 premutation carriers identified by expanded carrier screening.ResultsSixty‐three percent of those screened met guidelines screening criteria; the remaining 37% did not. Ninety‐eight percent had undergone post‐test genetic consultation. Of respondents screened preconceptionally, 74% reported planning or pursuing actions to reduce the risk of an affected pregnancy; the extent to which couples planned/pursued these actions was not significantly different between those meeting either screening criterion (76%) versus those meeting neither criterion (55%). Of respondents screened prenatally, 41% pursued prenatal diagnostic testing; the extent to which couples pursued prenatal diagnosis was not significantly different between those who met either screening criterion (37%) versus those who met neither criterion (31%).ConclusionThese results support the expansion of FXS screening criteria in guidelines.

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“…Because genetics departments often have long waiting lists it has been argued that restricting testing to be done only after genetic counseling creates a barrier to genetic testing that contributes to keeping the rates of testing low [23]. With the increasing demand for genetic testing in diagnosis and treatment of BC and other cancers there is a need for alternative models that ensure both high access to testing and that the patient's need for information is met [29].…”

Section: Discussionmentioning

confidence: 99%

Mainstreamed Genetic Testing of Breast Cancer Patients in Two Hospitals in South Eastern Norway

Grindedal

Jørgensen²,

Olsson

et al. 2019

Preprint

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Background: Identification of a BRCA mutation in a breast cancer patient provides critical information both for treatment decisions and for prevention of new cancers. In South Eastern Norway, genetic testing of the BRCA genes has been mainstreamed into breast cancer care. Testing is offered directly to the patients by the surgeon or oncologist if they fulfill national criteria. The purpose of this study was to investigate to what extent BC patients who fulfill these criteria are offered testing. Methods: Three hundred and sixty one BC patients diagnosed during the first half of 2016 and 2017 at one university and one regional hospital in South Eastern Norway were included in the study. Data were collected on whether the patients fulfilled the criteria, whether they had been offered testing and if they had accepted testing. Results: For the two hospitals combined, 75% of BC patients who fulfilled the criteria were offered testing. The numbers were 63% at the regional hospital and 90% at the university hospital. Fifty two percent of the patients who were not offered testing even though they fulfilled the criteria and were younger than 50 years at time of diagnosis. As many as 95% of the patients who were offered testing, wanted to be tested. Conclusions: The majority of patients who fulfilled the criteria were offered testing. However, there were differences in rates of testing between the hospitals that affected all groups of patients. This indicates that diagnostic genetic testing is not equally available to all BC patients. We suggest that efforts should be made to raise awareness of and improve routines for genetic testing of BC patients in Norway.

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Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

Cited by 73 publications

References 99 publications

Development of patient “profiles” to tailor counseling for incidental genomic sequencing results

Development of patient “profiles” to tailor counseling for incidental genomic sequencing results

Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines

Mainstreamed Genetic Testing of Breast Cancer Patients in Two Hospitals in South Eastern Norway

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