Racial disparities in breast cancer hereditary risk assessment referrals.

For poorly understood reasons, Black non-Hispanic (BNH) women meeting National Comprehensive Cancer Network (NCCN) criteria for genetic testing for breast cancer risk are less likely than White non-Hispanic (WNH) women to undergo testing (Armstrong, Micco, Carney, Stopfer, & Putt, JAMA, 293, 1729 and 2005). We compared physician referral rates and uptake for genetic testing of BNH and WNH women meeting select NCCN criteria (breast cancer under age 50, two primary breast cancers, triple-negative disease under age 60) in the Cancer Center at George Washington University (GWCC) between 2015 and 2018. Of the 723 BNH and WNH patients treated for breast cancer at GWCC, 28% met study criteria for genetic counseling referral (n = 252; BNH n = 115, WNH n = 137). Physician referral rates to genetic counseling differed significantly by race (BNH 75.7%, n = 87 and WNH 92.7%; n = 127; χ2  = 14.19, p-value < .01). Once referred, though, there was no significant difference in uptake of genetic counseling by race (BNH 95.4%, n = 83; WNH 97.6%, n = 124, χ2  = 1.33, p-value = .25) for patients appropriately referred.

A Feasibility Study of Group-Delivered Behavioral Interventions for Insomnia Among Breast Cancer Survivors: Comparing Cognitive Behavioral Therapy for Insomnia and a Mind-Body Intervention.

Objectives: An estimated 30%-50% of breast cancer survivors (BCSs) report persistent insomnia, which may affect daytime functioning and quality of life, and lead to longer term health complications. Although the gold standard insomnia intervention, cognitive behavioral therapy for insomnia (CBT-I), has demonstrated efficacy, accessibility is limited due to a scarcity of trained providers, and adherence to therapy is variable. Group-delivered alternative therapies may offer an opportunity to reach and treat BCSs with insomnia. This pilot study was designed to assess feasibility of a group-delivered mind-body intervention compared with group-delivered CBT-I among BCSs. Design: The authors recruited n = 25 stages I - IV BCSs to a 9-week trial of group therapy for insomnia. Eligible women were assigned to the next upcoming group until it was full. Primary outcomes were to assess intervention feasibility measured by (1) qualitative focus group feedback and (2) attendance. The feasibility of using the Insomnia Severity Index (ISI) was also assessed in this population and ISI change scores were gathered to allow for power calculations in a future trial. Means and frequencies were used to describe participant demographics and attendance. Results: The authors found higher attendance (86% vs. 67% of sessions) and greater satisfaction with the intervention (84.6% vs. 57.1%) reported among mind-body participants than among CBT-I participants. Qualitative feedback suggested more group cohesion among the mind-body group and lower incentive to attend in-person among the CBT-I group. Conclusions: The results suggest that delivering a mind-body intervention for BCSs is feasible and acceptable, based on attendance and qualitative feedback.

Effects of Cancer Genetic Panel Testing on at-Risk Individuals.

OBJECTIVE: To evaluate the role of screening patients at increased risk for hereditary cancer syndromes with an extended panel of cancer predisposition genes to identify actionable genetic mutations. METHODS: A retrospective chart review was conducted of all patients presenting to a multidisciplinary cancer program for genetic counseling and testing from January 2015 to December 2016. Individuals presenting to the program were identified as at-risk by a personal or family history of cancer, by their health care provider, or by self-referral. All participants met current National Comprehensive Cancer Network criteria for genetic risk evaluation for hereditary cancer. The results of testing and its implications for management, based on National Comprehensive Cancer Network guidelines, were recorded. RESULTS: Of 670 at-risk patients who underwent genetic testing, 66 (9.9%) had BRCA-limited testing; of these, 26 of 670 (3.9%) had a deleterious or likely pathogenic mutation. Expanded panel testing was done for 560 of the 670 patients (83.4%), and abnormal results were found in 65 of 670 (9.7%); non-BRCA mutations (predominantly CHEK2) were found in 49 of the 65 (75%). Abnormal genetic testing was associated with increased surveillance in 96% of those with deleterious mutations, whereas negative testing for a known familial mutation in 45 patients was associated with a downgrade of their risk and reduction of subsequent surveillance and management. CONCLUSION: Guideline-based management is frequently altered by genetic testing, including panel testing, in patients at risk for cancer. We recommend that obstetrics and gynecology providers routinely refer at-risk patients for genetic counseling and testing when clinically appropriate.

The Perils of Single-Site Genetic Testing for Hereditary Cancer Syndromes in the Era of Next-Generation Sequencing.

A challenge in counseling patients with a family history suggesting a hereditary cancer syndrome is deciding which genetic tests or panels to order. In this article, we discuss the identification of multiple familial mutations through genetic counseling and panel testing. For patients meeting National Comprehensive Cancer Network criteria for clinical genetic testing, providers should consider expanded panels to provide a more complete assessment of one's genetic risk. The continued use of expanded panel testing in the clinical setting will help inform optimal management of cancer patients, as well as the management of their unaffected family members. The mutation discovered in this case was in the ATM gene. The clinical significance of the mutation, potential therapeutic targets, and proper clinical management are discussed. KEY POINTS: With single-site genetic testing, there is the potential to miss hereditary genetic syndromes that can be managed clinically.Between 4% and 6% of hereditary breast and ovarian cancer syndromes are caused by genes other than BRCA1 and BRCA2.ATM is a DNA mismatch repair gene associated with double-stranded DNA break repair and cell cycle checkpoint arrest.The risk of developing female breast cancer by age 50 and by age 80 in ATM heterozygotes is 9% and 17%-52%, respectively.