NCCN Guidelines® Insights: Breast Cancer Screening and Diagnosis, Version 1.2023.

The NCCN Guidelines for Breast Cancer Screening and Diagnosis provide health care providers with a practical, consistent framework for screening and evaluating a spectrum of clinical presentations and breast lesions. The NCCN Breast Cancer Screening and Diagnosis Panel is composed of a multidisciplinary team of experts in the field, including representation from medical oncology, gynecologic oncology, surgical oncology, internal medicine, family practice, preventive medicine, pathology, diagnostic and interventional radiology, as well as patient advocacy. The NCCN Breast Cancer Screening and Diagnosis Panel meets at least annually to review emerging data and comments from reviewers within their institutions to guide updates to existing recommendations. These NCCN Guidelines Insights summarize the panel's decision-making and discussion surrounding the most recent updates to the guideline's screening recommendations.

Standardized applications for genetic counseling graduate programs: Opinions of program directors.

Genetic Counseling Graduate Programs (GCGPs) have progressively increased in number and class size, and implementation of the National Matching Services in 2018 was a major step toward streamlining the admissions process. Standardized applications (SAs), which have been incorporated into the admissions process for undergraduate studies as well as several professional graduate programs, could also be considered for GCGPs. In this study, we assessed the opinions of GCGP Program Directors (PDs) regarding the implementation of an SA for GCGP admissions processes. GCGP PDs participated in an anonymous online survey designed to evaluate interest in an SA and assess perceived implementation barriers. The survey collected GCGP and PD demographic information, data on current application components, and PD opinions of an SA. Thirty PDs were included in this study, and just over half (n = 16/30, 53.3%) reported their current application structure would allow for SA implementation. While 40% (n = 12/30) of respondents anticipated an SA would benefit GCGPs, an additional 23.3% (n = 7/30) anticipated no impact to GCGPs. Most respondents (n = 26/30, 86.6%) anticipated that an SA would be beneficial for GCGP applicants. The main perceived benefit to GCGPs was an efficient application process, while perceived benefits to applicants included decreased redundancy and increased application access. Perceived harms to GCGPs included more generic applications, while perceived harms to applicants included increased competition for admission to individual GCGPs. The most common SA implementation barrier cited by respondents was current administrative structures. This study demonstrates that while GCGP leadership largely perceives an SA to be beneficial for applicants, opinions on impact to GCGPs vary. While the majority of respondents perceive implementation of an SA to be feasible, there are implementation barriers that must be addressed. Interestingly, GCGP leadership had mixed perceptions about the structure of a hypothetical SA, and thus overall impact, demonstrating the need for further study.

Racial and Ethnic Disparities in Germline Genetic Testing of Patients With Young-Onset Colorectal Cancer.

BACKGROUND & AIMS: Up to 20% of younger patients (age <50 years) diagnosed with colorectal cancer (CRC) have germline mutations in cancer susceptibility genes. Germline genetic testing may guide clinical management and facilitate earlier intervention in affected relatives. Few studies have characterized differences in genetic testing by race/ethnicity. METHODS: We identified young adults (age 18-49 years) diagnosed with CRC between 2009 and 2017 in 2 health systems in Dallas, TX. We evaluated referral to genetic counseling, attendance at genetic counseling appointments, and receipt of germline genetic testing by race/ethnicity. RESULTS: Of 385 patients with young-onset CRC (median age at diagnosis 44.4 years), 176 (45.7%) were Hispanic, 98 (25.4%) non-Hispanic Black, and 111 (28.8%) non-Hispanic White. Most patients (76.9%) received immunohistochemistry (IHC) for mismatch repair proteins, and there was no difference in receipt of IHC by race/ethnicity. However, a lower proportion of Black patients were referred to genetic counseling (50.0% vs White patients 54.1% vs Hispanic patients 65.9%; P = .02) and attended genetic counseling appointments (61.2% vs 81.7% White patients vs 86.2% Hispanic patients; P < .01). Of 141 patients receiving genetic testing, 38 (27.0%) had a pathogenic or likely pathogenic variant in a cancer susceptibility gene. An additional 33 patients (23.4%) had variants of uncertain significance, of which 84.8% occurred in racial/ethnic minorities. CONCLUSIONS: In a diverse population of patients diagnosed with young-onset CRC, we observed racial/ethnic differences in referral to and receipt of germline genetic testing. Our findings underscore the importance of universal genetic testing to address racial/ethnic disparities in young-onset CRC.

Adapting genetic counseling operations amidst the COVID-19 pandemic.

The COVID-19 pandemic caused significant disruptions to the delivery of genetic counseling services and clinical operations. Understanding how these pivots in practice affected patient care across both a county hospital system and academic medical center can help provide models of clinical operations for other genetic counselors. Programmatic data were analyzed between March 18, 2020 and September 18, 2020, including visit completion rates and genetic testing completion outcomes for genetic counseling services during the COVID-19 pandemic. In addition to analyzing the effects on patient care, we provide commentary on technological adaptations that aided our operations, billing practices, onboarding and engaging new and existing staff, and coordination of education and outreach opportunities. Through this work, we highlight barriers encountered and successful adaptations that will influence future clinical practices and may guide other providers in the development of strategies to meet their clinical and operational needs.

Utilization of breast cancer risk prediction models by cancer genetic counselors in clinical practice predominantly in the United States.

Risk assessment in cancer genetic counseling is essential in identifying individuals at high risk for developing breast cancer to recommend appropriate screening and management options. Historically, many breast cancer risk prediction models were developed to calculate an individual's risk to develop breast cancer or to carry a pathogenic variant in the BRCA1 or BRCA2 genes. However, how or when genetic counselors use these models in clinical settings is currently unknown. We explored genetic counselors' breast cancer risk model usage patterns including frequency of use, reasons for using or not using models, and change in usage since the adoption of multi-gene panel testing. An online survey was developed and sent to members of the National Society of Genetic Counselors; board-certified genetic counselors whose practice included cancer genetic counseling were eligible to participate in the study. The response rate was estimated at 23% (243/1,058), and respondents were predominantly working in the United States. The results showed that 93% of all respondents use at least one breast cancer risk prediction model in their clinical practice. Among the six risk models selected for the study, the Tyrer-Cuzick (IBIS) model was used most frequently (95%), and the BOADICEA model was used least (40%). Determining increased or decreased surveillance and breast MRI eligibility were the two most common reasons for most model usage, while time consumption and difficulty in navigation were the two most common reasons for not using models. This study provides insight into perceived benefits and limitations of risk models in clinical use in the United States, which may be useful information for software developers, genetic counseling program curriculum developers, and currently practicing cancer genetic counselors.

Downstream Revenue Generated by a Cancer Genetic Counselor.

PURPOSE: Enhanced cancer risk reduction measures are recommended for patients with hereditary predispositions to cancer. Providing these services within a healthcare institution (HI) generates downstream revenue (DSR). We evaluated the DSR for our institution after patients were identified to have a pathogenic variant by a genetic counselor (GC). METHODS: Retrospective chart review identified patients with hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) seen in the UT Southwestern Medical Center Cancer Genetics Clinic between November 1, 2009, and January 31, 2019. All billable encounters were recorded. Total revenue and work relative value units were calculated after patients met with a GC. RESULTS: Four hundred twenty-five patients with HBOC and LS had financial data available for analysis. After GC visit, DSR totaled $32,798,000 in US dollars (USD). Patients unaffected with cancer (n = 176) generated $8,453,000 (USD). Patients (n = 96) whose first visit to the institution were for GC consultation (naïve patients) generated $5,933,000 (USD). Unaffected, naïve patients (n = 64) generated $3,190,000 (USD) in DSR. The 425 total patients generated 73,957 work relative value units at the institution after their appointment with a GC. CONCLUSION: GCs bring in substantial DSR for their HI by identifying patients with HBOC or LS. Institution naïve and unaffected patients who continue care at the institution provide additional opportunities to generate DSR. If applied to additional pathogenic variant carriers, GCs can further increase DSR for an HI.

Clinicopathological Features and Outcomes in Individuals with Breast Cancer and ATM, CHEK2, or PALB2 Mutations.

INTRODUCTION: The moderate-penetrance germline mutations ATM, CHEK2, and PALB2 are implicated in an increased risk of the development of breast cancer. Whether these mutations provide clinical utility to guide treatment strategies and prognosis remains unknown. METHODS: A retrospective case-control study from a tertiary institution compared patients with stage 0-III breast cancer, and positive for ATM, CHEK2, or PALB2 mutations, with a matched cohort selected by randomization and negative for mutations. Data acquisition included demographics, histopathologic, treatment, and clinical outcome variables. RESULTS: A total of 145 patients with breast cancer (144 female and 1 male) were analyzed-74 mutation-positive patients (24 ATM, 26 CHEK2, 24 PALB2) and 71 mutation-negative patients. Mutation-positive patients compared with mutation-negative patients had increased family history of breast cancer (79.7 vs. 52.9%, p < 0.001) and tumor size > 2.0 cm (63.1% vs. 42.3%, p = 0.015). Patients with prior knowledge of mutational status were more likely to proceed with total mastectomy and prophylactic mastectomy (74.5% vs. 25.5%, p < 0.02; and 65.5% vs. 34.5%, p < 0.001, respectively). The unadjusted recurrence rate was higher in mutation-positive patients compared with mutation-negative patients (24.3 vs. 8.5%, p = 0.01), although mutation status was not predictive for recurrence in Cox regression analysis. CONCLUSIONS: Patients positive for ATM, CHEK2, or PALB2 mutations had increased tumor size and were more likely to undergo extensive surgeries. Mutation status was not predictive of recurrence, although this lack of effect may have been mitigated by lower rates of recurrence in those who pursued total mastectomy. Further studies are needed to confirm these findings.

De novo SDHB gene mutation in a family with extra-adrenal paraganglioma.

A 14-year-old male presented with abdominal pain. Imaging illustrated a left-sided adrenal mass; he underwent a left nephrectomy, confirming an extra-adrenal PGL. Germline genetic testing revealed a heterozygous, likely pathogenic mutation in the SDHB gene. The patient's family subsequently underwent genetic testing; his mother and sister were both positive for the familial SDHB mutation. Cascade testing for the proband's maternal aunt and maternal grandparents was negative for the familial mutation. SNP genotyping was used to confirm relationships. This is the second reported case of a de novo SDHB gene mutation and the first reported case of a confirmed de novo mutation in a patient who was not the initial proband. As SDHB-associated PGLs and PCCs are expected to be more aggressive and malignant, it is imperative to identify patients with SDHB mutations early. Given that many patients with germline mutations have no family history of PGL of PCC, the possibility of de novo mutations must be considered. Further studies are needed to determine the rate of de novo mutation in SDHB and other SDH-complex genes. Up to 41% of patients with paragangliomas (PGL) or pheochromocytomas (PCC) have an identifiable hereditary cancer predisposition syndrome. Mutations in 12 genes are known to increase the risk of PGL and/or PCC; however, the de novo rate is mostly unknown. Only one case report exists of a de novo SDHB mutation. We present the second case of a family with a de novo SDHB mutation.

Family still matters: Counseling patients with complex family histories of colon and endometrial cancers.

BACKGROUND: There are no national guidelines for the management of patients with a family history consistent with Lynch syndrome (LS) but a negative genetic test. To determine current management practices, genetic counselors' (GCs) recommendations were assessed. METHODS: A survey of GCs using five hypothetical pedigrees was posted to National Society of Genetic Counselors (NSGC) discussion forums. Descriptive statistics were used. RESULTS: One-hundred and fifteen surveys were completed. A pedigree with a first-degree relative (FDR) with early-onset colorectal cancer (CRC) and a family history of CRC and endometrial cancer (EC) prompted 83% (n = 95) of respondents to recommend early and frequent colonoscopies, based on family history. When the CRCs and ECs occurred in family members removed from the proband, 96% (n = 110) of GCs said they would screen based on family history. However, only 52% (n = 60) suggested CRC screening should begin earlier and occur more often, and 43% (n = 50) suggested CRC screening should follow standard age and frequency guidelines. CONCLUSION: Concordance of opinion among GCs for the management of patients with negative genetic test results exists when FDRs are affected. However, when affected relatives are more distant, GCs disagreed on screening recommendations. These data suggest a need for guidelines for patients with a family history of cancer and a negative genetic test.

Exploration of Male Attitudes on Partnerships and Sexuality with Female BRCA1/2 Mutation Carriers.

Women with BRCA mutations are inundated with decisions about managing cancer risks and childbearing considerations. Decisions become more complicated when women face disclosing their mutation and risk-reduction options to a romantic partner. This study identifies the concerns and perspectives of male romantic partners regarding these unique decisions. Twenty-five male participants completed an online survey posted to cancer support group message boards. Participants reported relationship changes regarding intimacy levels (n = 9), attraction (n = 2), and communication (n = 22) after mutation disclosure. Participants whose partners had not undergone prophylactic mastectomy (n = 14) reported concerns regarding sexual relations (n = 5), post-surgical appearance (n = 2), post-surgical attraction (n = 5), and health/lifespan (n = 9). Participants did not express attitude changes toward childbearing. While mutation disclosure conversations and surgical options are concerns for many BRCA mutation carriers in relationships, male partners share these concerns. Aspects of the relationship may change, but male study participants continued to support their partners. This information can benefit female BRCA mutation carriers, their current or future partners, and genetic counselors working with this particular population.

The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.

PURPOSE: The advent of next-generation sequencing for cancer susceptibility genes holds promise for clinical genetics application, but the practical issues surrounding integration of this testing into the clinical setting have not been well addressed. This article describes the clinical experience of genetic counselors in an academic and community setting with next-generation sequencing cancer panels. METHODS: Between April 2012 and January 2013, 60 next-generation sequencing panels were ordered. A retrospective review was conducted to determine the indication for ordering the results of the tests and the patient management based on the results. RESULTS: Ten tests were canceled due to out-of-pocket costs or previously identified mutations. Among the 50 tests, 5 (10%) showed a positive result. Moreover, 15 of the 50 (30%) panels detected variant(s) of uncertain significance or variant(s) suspected benign. CONCLUSION: We propose clinical guidelines for identifying high-risk patients who should be offered this testing. Our data support the National Comprehensive Cancer Network recommendations that next-generation sequencing be ordered as a second-tier test for high-risk individuals with cancer by trained cancer genetics providers. Literature review and expert knowledge should be used to create management plans for the identification of both positive and variants of uncertain significance results. Providers should be aware of limitations regarding reimbursement for testing and recommended management strategies.