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.

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.

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.