Factors Influencing Clinical Follow‐Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative <i>BRCA1</i> and <i>BRCA2</i> Testing

Chadwell, Sarah E.; He, Hua; Knapke, Sara; Lewis, Jaime D.; Sisson, Rebecca; Hopper, Jennifer

doi:10.1007/s10897-018-0241-9

Cited by 6 publications

(11 citation statements)

References 22 publications

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“…The uptake of genetic testing in our recontacted counselees was higher than that earlier reported by Romero et al, who recontacted patients with medullary thyroid carcinoma and pheochromocytoma or paraganglioma for additional genetic testing [32]. Chadwell et al have reported that, in general, the cost of testing and insurance coverage might be the most important barriers to additional genetic testing [33]. In our study the genetic test was done free-of-charge and the visit to the genetics department for the PV carriers was covered by the participant's health insurance.…”

Section: Discussioncontrasting

confidence: 61%

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: Discussioncontrasting

confidence: 61%

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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“…Following resolution of any discrepancies between reviewers, 83 publications were included in the final review (ordered alphabetically by primary author in Table 1). 8–90 A flow diagram tracking the number of studies at each stage of the selection process is presented in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

“…[9][10][11][12][13] Similarly, a 2019 study involving over 6,000 individuals demonstrated that uninsured patients with an ovarian cancer diagnosis were less likely to pursue genetic testing compared to those with insurance coverage (20.8% vs. 35.3%). 14 Out of pocket cost and a lack of insurance coverage were specifically cited as barriers to testing by young breast cancer survivors, 15,16 those with a personal history of breast cancer and uninformative BRCA test results, 17 and Latina and African-American women. [18][19] Citations identified via electronic database searches In a 2012 study from Chicago, the perception that OOP cost presents a barrier for BRCA testing varied widely among breast cancer survivors, clinicians, and payers (83% vs. 20% vs. 15%, respectively).…”

Section: Descriptive Numerical Analysismentioning

confidence: 99%

Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

et al. 2021

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Full coverage of the cost of clinical genetic testing is not always available through public or private insurance programs, or a public healthcare system. Consequently, some patients may be faced with the decision of whether to finance testing out-ofpocket (OOP), meet OOP expenses required by their insurer, or not proceed with testing. A scoping review was conducted to identify literature associated with patient OOP and private pay in clinical genetic testing. Seven databases (EMBASE, MEDLINE, CINAHL, PsychINFO, PAIS, the Cochrane Database of Systematic Reviews, and the JBI Evidence-Based Practice database) were searched, resulting in 83 unique publications included in the review. The presented evidence includes a descriptive analysis, followed by a narrative account of the extracted data. Results were divided into four groups according to clinical indication: (1) hereditary breast and ovarian cancer, (2) other hereditary cancers, (3) prenatal testing, (4) other clinical indications. The majority of studies focused on hereditary cancer and prenatal genetic testing. Overall trends indicated that OOP costs have fallen and payer coverage has improved, but OOP expenses continue to present a barrier to patients who do not qualify for full coverage.

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“…However, concerns about costs and prior experiences with insurance companies remained. The barrier of cost was also observed by Chadwell et al (2018). We recommend a discussion upfront about the cost for updated testing for any patient who is re-contacted.…”

Section: Barriers and Facilitators To Re-contactmentioning

confidence: 86%

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

Espinel

Elrick

et al. 2021

Journal of Genetic Counseling

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Women with a personal history of breast or ovarian cancer who previously had BRCA1/2 testing now have the opportunity for additional genetic risk information through multi-gene panel testing. However, little is known about women's receptivity to further contact and uptake of genetic counseling and updated genetic testing.Utilizing a clinic database to identify potential participants, we prospectively contacted women in the United States with a personal and/or family history of breast or ovarian cancer who had negative BRCA1/2 testing, which was performed primarily between 2011 and 2018. Eligible and interested participants were scheduled for a genetic counseling appointment to discuss updated genetic testing using a multi-gene panel. We attempted to contact 455 participants, screened 203 (45%), and 103 (23%) completed a pre-test genetic counseling visit to discuss updated testing. Of these, 88 participants had updated multi-gene panel testing. Participants had an average age of 59 years, and most (78%) had breast cancer with an average age of 45 at diagnosis. The majority (97%) of participants were white. Of participants who underwent panel testing, 13%(n = 11) had at least one pathogenic variant identified. Most participants (86%) had an out-of-pocket cost of $100 or less for their panel. There is a sizable population of women with a personal and/or family history of breast or ovarian cancer and negative BRCA1/2 test results who would qualify for updated multi-gene panel testing. In our study, 59% of those reached who were eligible completed a pre-test genetic counseling visit. Clinics could consider an outreach program to offer genetic counseling and updated genetic testing. Supports for this type of effort may include coordinators and genetic counseling assistants and an available database with patients' contact information and prior genetic test results. Updated testing allows women more information about their risk and may expand the value of genetic counseling.

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Factors Influencing Clinical Follow‐Up for Individuals with a Personal History of Breast and/or Ovarian Cancer and Previous Uninformative BRCA1 and BRCA2 Testing

Cited by 6 publications

References 22 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

Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

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

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