Design of a study to implement population-based risk assessment for hereditary cancer genetic testing in primary care

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.

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Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period

JCO Precision Oncology ◽

10.1200/po.20.00020 ◽

2020 ◽

pp. 944-954

Author(s):

Lisa Esterling ◽

Ranjula Wijayatunge ◽

Krystal Brown ◽

Brian Morris ◽

Elisha Hughes ◽

...

Keyword(s):

Genetic Testing ◽

Hereditary Cancer ◽

Medical Management ◽

Clinical Laboratory ◽

Cancer Predisposition ◽

Expert Committee ◽

Variant Classification ◽

Cancer Genetic ◽

Time Period ◽

Predisposition Genes

PURPOSE Hereditary cancer genetic testing can inform personalized medical management for individuals at increased cancer risk. However, many variants in cancer predisposition genes are individually rare, and traditional tools may be insufficient to evaluate pathogenicity. This analysis presents data on variant classification and reclassification over a 20-year period. PATIENTS AND METHODS This is a retrospective analysis of > 1.9 million individuals who received hereditary cancer genetic testing from a single clinical laboratory (March 1997 to December 2017). Variant classification included review of evidence from traditional tools (eg, population frequency databases, literature) and laboratory-developed tools (eg, novel statistical methods, in-house RNA analysis) by a multidisciplinary expert committee. Variants may have been reclassified more than once and with more than one line of evidence. RESULTS In this time period, 62,842 unique variants were observed across 25 cancer predisposition genes, and 2,976 variants were reclassified. Overall, 82.1% of reclassification events were downgrades (eg, variant of uncertain significance [VUS] to benign), and 17.9% were upgrades (eg, VUS to pathogenic). Among reclassified variants, 82.8% were initially classified as VUS, and 47.5% were identified in ≤ 20 individuals (allele frequency ≤ 0.001%). Laboratory-developed tools were used in 72.3% of variant reclassification events, which affected > 600,000 individuals. More than 1.3 million patients were identified as carrying a variant that was reclassified within this 20-year time period. CONCLUSION The variant classification program used by the laboratory evaluated here enabled the reclassification of variants that were individually rare. Laboratory-developed tools were a key component of this program and were used in the majority of reclassifications. This demonstrates the importance of using robust and novel tools to reclassify rare variants to appropriately inform personalized medical management.

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Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting

Obstetrics and Gynecology ◽

10.1097/aog.0000000000002916 ◽

2018 ◽

Vol 132 (5) ◽

pp. 1121-1129 ◽

Cited By ~ 3

Author(s):

Mark S. DeFrancesco ◽

Richard N. Waldman ◽

Melissa M. Pearlstone ◽

Dana Karanik ◽

Ryan Bernhisel ◽

...

Keyword(s):

Risk Assessment ◽

Genetic Testing ◽

Cancer Risk ◽

Hereditary Cancer ◽

Cancer Risk Assessment ◽

Practice Setting ◽

Community Practice

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Disparities in pretest genetic counseling among a population-based sample of young breast cancer patients.

Journal of Clinical Oncology ◽

10.1200/jco.2019.37.15_suppl.1579 ◽

2019 ◽

Vol 37 (15_suppl) ◽

pp. 1579-1579

Author(s):

Sonya Reid-Lawrence ◽

Tuya Pal ◽

Ingrid A. Mayer ◽

Xiao-Ou Shu ◽

Ann Tezak ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Counseling ◽

Genetic Testing ◽

Cancer Patients ◽

Hereditary Cancer ◽

Medical Records ◽

Population Based ◽

Racial Groups ◽

Breast Cancer Patients ◽

Young Breast Cancer

1579 Background: Per national practice guidelines, pre-test genetic counseling (GC) through a board-certified or credentialed genetics health professional (GHP) is recommended when testing for hereditary cancer. We sought to compare differences in rates of pre-test GC among young breast cancer (BC) patients tested with or without GHP involvement across three racial groups (Black, Hispanic and non-Hispanic white (NHW)). Methods: A population-based sample of Black, Hispanic and NHW women diagnosed with invasive BC ≤ age 50 from 2009 to 2012 were recruited through the Florida State Cancer Registry. Participants were asked to complete a baseline questionnaire and release medical records for verification of clinical information and genetic testing. We compared the rates of pre-test GC across racial groups in women tested with or without GHP involvement using Analysis of Variance. Multivariate logistic regression analysis was also conducted to adjust for potential confounders. Results: Of 1618 participants, 828 had genetic testing based on medical records and/or self-reported on their questionnaire. There were 170 (20.5%) with GHP involvement (either through consultation and/or test ordering) and the remaining 658 women (79.5%) had no documentation of GHP involvement. Among patients tested without GHP involvement, rates of pre-test GC were significantly lower among Black women (34.8%) compared to Hispanics (80%) and NHW (78.7%) (p < 0.001). In contrast, among those with GHP involvement, rates of pre-test GC were similar among Black (89.7%), Hispanic (81.1%) and NHW (84.6%) (p = 0.89). Conclusions: Our results suggest that among young breast cancer patients tested for hereditary cancer without GHP involvement, Blacks were significantly less likely to receive pre-test GC, compared to the other two groups. In contrast, rates of pre-test GC among those with GHP involvement were similar across all groups. These results suggest a disparity in receipt of pre-test GC (which is standard of care per national guidelines) among Blacks tested without GHP involvement. These findings are concerning given the need to offer guideline-adherent care to all patients receiving hereditary cancer testing.

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