Uptake of genetic counseling and multi‐gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing

Mooney, Ryan; Espinel, Whitney; Elrick, Ashley; Kehoe, Kelsey; Kohlmann, Wendy; Kaphingst, Kimberly A.

doi:10.1002/jgc4.1513

Cited by 3 publications

(7 citation statements)

References 28 publications

(47 reference statements)

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“…Further, in Hampel's 2009 commentary, despite being able to identify which patients would potentially benefit, the Ohio State University Cancer Center only initially tested 12 of the 319 patients who were mailed letters regarding the availability of BRCA1/2 deletion/duplication analysis (Hampel, 2009). Other studies showed similar difficulties with revisiting genetic testing (Mooney et al, 2021; Romero Arenas et al, 2018; Sawyer et al, 2019).…”

Section: Discussionmentioning

confidence: 67%

“…(Hampel, 2009). Other studies showed similar difficulties with revisiting genetic testing (Mooney et al, 2021;Romero Arenas et al, 2018;Sawyer et al, 2019).…”

Section: Discussionmentioning

confidence: 72%

“…One clinic completed a chart review spanning 1998–2019, and only 139 patients out of 2952 (4.7%) completed genetic testing more than once (Dettwyler et al, 2021). Even the introduction of a study intervention has led to limited retesting (Hampel, 2009; Mooney et al, 2021; Romero Arenas et al, 2018; Sawyer et al, 2019). Despite attempting to reach patients through mailed letters, emails, and up to three telephone calls, only 25% of the 412 eligible patients ( N = 103) completed the complimentary genetic counseling visit to discuss further testing in one study (Mooney et al, 2021).…”

Section: Introductionmentioning

confidence: 99%

“…Even the introduction of a study intervention has led to limited retesting (Hampel, 2009; Mooney et al, 2021; Romero Arenas et al, 2018; Sawyer et al, 2019). Despite attempting to reach patients through mailed letters, emails, and up to three telephone calls, only 25% of the 412 eligible patients ( N = 103) completed the complimentary genetic counseling visit to discuss further testing in one study (Mooney et al, 2021). However, most that completed the genetics visit proceeded with testing (88/103, 85%).…”

Section: Introductionmentioning

confidence: 99%

“…Communication via mailed letters alone has proven to have a low yield of action (Mooney et al, 2021; Romero Arenas et al, 2018; Sawyer et al, 2019). In many relevant studies, significant differences in those who have chosen to proceed with testing or not have either not been observed or measured (Dettwyler et al, 2021; Hampel, 2009; Mooney et al, 2021; Romero Arenas et al, 2018). One study reported that older age did influence the likelihood of response after a mailed letter about retesting (Sawyer et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results

Macklin-Mantia

Clift

Maimone

et al. 2022

Journal of Genetic Counseling

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Advances have dated the genetic testing initially offered to evaluate for hereditary breast and ovarian cancer risks. Previous research has demonstrated that many patients have not updated testing. This study reviewed the incidence of additional analysis after an uninformative BRCA1/2 result and offered updated testing with limited barriers to those who had not completed. After viewing an educational video and providing informed consent, eligible patients were mailed a saliva collection kit to complete an 84‐gene hereditary cancer panel at no personal cost. A total of 704 patients had completed BRCA1/2 only testing between 2001 and 2020. Fifteen percent (N = 102) of the 671 patients with an uninformative BRCA1/2 result had already completed expanded testing. Most, 74 of 102 (73%), had been rereferred to medical genetics during a clinical visit related to cancer care. Those who had already completed additional testing were more likely to have a personal history of cancer (92% vs. 79%, p = 0.002) and live locally (p = 0.032). Invitation to complete updated testing through this study was sent to 372 people, and 116 (31%) consented to participate. For 142 of the 256 who did not proceed with testing through the study, proof of receipt of research information was available. In total, 22 pathogenic variants were reported in 21 of the 226 patients with updated testing from before and including our study: ATM (4), CHEK2 (4), LZTR1 (1), MUTYH (3), NBN (1), NF1 (1), NTHL1 (1), PALB2 (4), PMS2 (1), RAD50 (1), and SPINK1 (1). Many potential barriers of retesting were eliminated by removing personal costs or travel requirements. Still, only about 30% of patients agreed to participate, and a significant portion elected not to proceed. Future research could focus on the discovery of other factors that dissuade patients and what measures may better inform them on potential benefits.

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Section: Discussionmentioning

confidence: 67%

“…(Hampel, 2009). Other studies showed similar difficulties with revisiting genetic testing (Mooney et al, 2021;Romero Arenas et al, 2018;Sawyer et al, 2019).…”

Section: Discussionmentioning

confidence: 72%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results

Macklin-Mantia

Clift

Maimone

et al. 2022

Journal of Genetic Counseling

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An analysis of the impact of annual cancer genetic testing guideline updates on a past patient population

Johnson,

Hogan,

Merrill

et al. 2023

Journal of Genetic Counseling

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Germline genetic testing for cancer predisposition genes has become an essential component of cancer treatment and risk reduction. The National Comprehensive Cancer Network (NCCN) releases annual genetic testing guidelines that identify characteristics of patients that could be affected by a hereditary cancer syndrome. These guidelines have broadened over time and the implications for past patients of cancer genetics clinics are not well understood. This study is a retrospective chart review aimed at determining the percentage and characteristics of past patients that meet updated NCCN guidelines (Breast, Ovarian, and Pancreas [BOP] v1.2022 and Colorectal [CRC] v1.2021), patients that attended a follow‐up appointment, and patients who went on to receive genetic testing. Clinical data and characteristics were compared between the study population as a whole and the cohort of patients that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The study population consisted of 280 patients with 76 (27.1%) patients meeting updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The year of initial cancer genetic counseling appointment was statistically significant (p = 0.023) with patients more likely to meet NCCN guidelines BOP v1.2022 and CRC v1.2021 with earlier initial cancer genetic counseling appointments. In the cohort that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021, the most common reason was a change in the NCCN guidelines (BOP or CRC) (54/76, 71.1%) with triple‐negative breast cancer diagnosed at any age being the most impactful guideline change (19/54, 35.2%). Twenty‐one patients attended a follow‐up appointment (7.5%) and of those that received genetic testing (17/21, 81%) most received negative results (13/17, 61.9%), with one pathogenic, low penetrance result (1/17, 5.9%, CHEK2 p.I157T). Provider‐initiated follow‐up was attributed to most follow‐up appointments (16/21, 76.2%) implying patients do not tend to follow‐up on their own. Education to non‐genetics providers as well as targeted implementation of follow‐up protocols possibly managed by genetic counseling assistants and utilizing electronic medical record (EMR) patient messaging could lead to improved patient follow‐up.

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Predictors of Women’s Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members

Winskill

Goodman

Daly

et al. 2023

Public Health Genomics

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Introduction: Many individuals who previously received negative genetic test results are eligible for updated testing. This study examined intention to communicate updated genetic test results to relatives in participants who previously received negative genetic test results. Methods: Women with a personal or family history of breast or ovarian cancer who tested negative for BRCA1/2 before 2013 were enrolled between April 2018 and October 2019. Proportions were calculated to assess intention to communicate updated genetic test results to living immediate family, extended family, and all family. Potential predictors of intentions from the theory of planned behavior (attitudes, subjective norms, perceived behavioral control) were assessed. The three outcomes were analyzed using generalized linear models with a quasi-binomial probability distribution. Results: 110 women completed the baseline assessment prior to updated testing. Participants intended to communicate genetic test results to 90% of immediate family, 51% of extended family, and 66% of all living relatives. Participants with higher subjective norms (aOR = 1.93, 95% CI: 1.08–3.57) had higher intentions to communicate genetic test results to extended family, while participants with more positive attitudes (aOR = 1.27, 95% CI: 1.01–1.60) had higher intentions to communicate to all family. Placing higher importance on genetic information was associated with higher intentions to communicate to immediate family (aOR = 1.40, 95% CI: 1.06–1.83). Lower subjective numeracy was associated with higher intentions to communicate to extended family (aOR = 0.50, 95% CI: 0.32–0.76). Conclusion: Attitudes and subjective norms were predictors of intention to communicate updated genetic information to at-risk biological relatives, and predictors may vary by degree of relationship.

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Uptake of genetic counseling and multi‐gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing

Cited by 3 publications

References 28 publications

Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results

Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results

An analysis of the impact of annual cancer genetic testing guideline updates on a past patient population

Predictors of Women’s Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members

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