Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer

Purpose Understanding the outcomes of returning individual genetic research results to participants is critical because some genetic variants are found to be associated with health outcomes and have become available for clinical testing. Materials and Methods BRCA1/2-negative women with early-onset breast cancer, multiple primary cancers, or a family history of breast cancer who participated in a gene discovery cancer registry were offered the opportunity to learn their individual genetic research results of 24 breast cancer susceptibility genes with a genetic counselor after predisclosure genetic counseling. Outcomes included uptake of research results, knowledge, informed choice, psychosocial adjustment, uncertainty, satisfaction, and uptake of clinical confirmation testing. Results Four hundred two potential participants were contacted. One hundred ninety-four participants (48%) did not respond despite multiple attempts, and 85 participants (21%) actively or passively declined. One hundred seven participants (27%) elected for predisclosure counseling and were more likely to be younger, married, and white. Ninety percent of participants who had predisclosure counseling elected to receive their genetic research results, and 89% made an informed choice. Knowledge increased significantly after predisclosure counseling, and anxiety, intrusive cancer-specific distress, uncertainty, and depression declined significantly after receipt of results. General anxiety and intrusive cancer-specific distress declined significantly for both participants with a positive result and those with a negative result. Sixty-four percent of participants had clinical confirmation testing when recommended, including all participants with a mutation in a high-penetrance gene. Conclusion Uptake of genetic research results may be lower than anticipated by hypothetical reports and small select studies. Participants who elected to receive research results with genetic providers did not experience increases in distress or uncertainty, but not all patients return for confirmation testing.

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Breast cancer treatment according to pathogenic variants in cancer susceptibility genes in a population-based cohort.

Journal of Clinical Oncology ◽

10.1200/jco.2019.37.15_suppl.560 ◽

2019 ◽

Vol 37 (15_suppl) ◽

pp. 560-560 ◽

Cited By ~ 2

Author(s):

Allison W. Kurian ◽

Kevin C. Ward ◽

Paul Abrahamse ◽

Ann S Hamilton ◽

Dennis Deapen ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Genetic Test ◽

Cancer Susceptibility ◽

Population Based ◽

Susceptibility Genes ◽

Breast Cancer Treatment ◽

Pathogenic Variants ◽

Cancer Susceptibility Genes ◽

To Receive

560 Background: Increasing use of germline genetic testing may have unintended consequences on breast cancer treatment. We do not know whether treatment deviates from guidelines for women with pathogenic variants (PV) in cancer susceptibility genes. Methods: SEER data for all women aged ≥20 years, diagnosed with breast cancer in 2014-15 and reported to Georgia and California registries (N = 77,588) by December 1, 2016 were linked to germline genetic testing results from 4 laboratories that did nearly all clinical testing. We examined first course of therapy (before recurrence or progression) of stage < IV patients who linked to a genetic test: bilateral mastectomy (BLM) in candidates for surgery (unilateral, stages 0-III); post-lumpectomy radiation in those with an indication (all but age ≥70, stage I, hormone receptor (HR)-positive and HER2-negative); and chemotherapy in those without a definitive indication (stage I-II, HR-positive, HER2-negative and 21-gene recurrence score < 30). We report the percent treated based on multivariable modeling, adjusted for age, race, stage, grade, insurance and socioeconomic status. Results: The table shows that 9% of patients who linked to a genetic test result had a PV (N = 1,283). Compared to women with negative results,women with BRCA1/2 PVs were more likely to receive BLM, more likely to receive chemotherapy without definitive indication, and less likely to receive indicated radiation in their first course of therapy. Lower-magnitude effects were seen with other PVs but not variants of uncertain significance (VUS). Conclusions: In a population-based setting, women with PVs in BRCA1/2 or other cancer susceptibility genes may have a higher risk of receiving locoregional and systemic treatment that does not follow guidelines. [Table: see text]

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Adherence to breast cancer treatment guidelines according to pathogenic variants in cancer susceptibility genes in a population-based cohort.

Journal of Clinical Oncology ◽

10.1200/jco.2019.37.27_suppl.34 ◽

2019 ◽

Vol 37 (27_suppl) ◽

pp. 34-34

Author(s):

Steven J. Katz ◽

Monica Morrow ◽

Allison W. Kurian

Keyword(s):

Breast Cancer ◽

Genetic Testing ◽

Genetic Test ◽

Cancer Susceptibility ◽

Population Based ◽

Susceptibility Genes ◽

Breast Cancer Treatment ◽

Pathogenic Variants ◽

Cancer Susceptibility Genes ◽

To Receive

34 Background: Increasing use of germline genetic testing may have unintended consequences on breast cancer treatment. We do not know whether treatment deviates from guidelines for women with pathogenic variants (PV) in cancer susceptibility genes. Methods: SEER data for all women aged ≥20 years, diagnosed with breast cancer in 2014-15 and reported to Georgia and California registries (N=77,588) by December 1, 2016 were linked to germline genetic testing results from 4 laboratories that did nearly all clinical testing. We examined first course of therapy of stage <IV patients who linked to a genetic test: bilateral mastectomy (BLM) in candidates for surgery (unilateral, stages 0-III); post-lumpectomy radiation in those with an indication (all but age ≥70, stage I, hormone receptor (HR)-positive and HER2-negative); and chemotherapy in those without definitive indication (stage I-II, HR-positive, HER2-negative and 21-gene recurrence score <30). We report the percent treated based on multivariable modeling, adjusted for age, race, stage, grade, insurance and socioeconomic status. Results: The table shows that 9% of patients who linked to a genetic test result had a PV (N=1,283). Compared to women with negative results, those with BRCA1/2 PVs were more likely to receive BLM, more likely to receive chemotherapy without definitive indication, and less likely to receive indicated radiation as initial treatment. Lower-magnitude effects were seen with other PVs but not variants of uncertain significance (VUS). Conclusions: In a population-based setting, women with PVs in BRCA1/2 or other cancer susceptibility genes may have higher risk of receiving locoregional and systemic treatment that does not follow guidelines. [Table: see text]

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