Increasing referral of at‐risk women for genetic counseling and BRCA testing using a screening tool in a community breast imaging center

1507 Background: The NCCN has published guidelines for screening and testing of Hereditary Breast and Ovarian Cancer (HBOC) that is typically used by the primary physician or oncologist. Little data exists on the value of genetic screening at a major health care access point: the breast imaging center (BIC). Using BICs as potential clinics to identify high risk women could increase the number of appropriate referrals for genetic risk assessment. Therefore, at our hospital-based BIC serving mostly low to middle income patients in a major metropolitan center, we developed a practical screening tool based on the HBOC guidelines and prospectively screened women receiving screening and diagnostic mammography. Methods: A questionnaire based on the NCCN HBOC genetic referral guidelines was added to the intake forms of all patients (pts) obtaining breast imaging at our BIC from 2012 to 2015. Forms were reviewed by the radiologists and flagged if the patient met the guidelines of the tool. Identified pts were contacted by letter and/or telephone and a nurse navigator or genetic counselor verified data, and provided information about genetic counseling to the patient prior to scheduling genetic counseling appointments. Results: Almost 35, 000 pts were seen during the study period. 1214 pts (3.5%) were flagged as possibly high risk, of which 189 pts. had received prior genetic testing. Of the 1025 remaining pts identified as candidates for genetic counseling, 258 (25%) made a genetic counseling appointment and 163 (16%) received genetic counseling. 106 pts. were tested for BRCA1/2. 9 pts (8.5%) tested positive for a BRCA1/2 pathogenic mutation and 8 pts (7.5%) had a Variant of Unknown Significance. Conclusions: Screening for HBOC syndromes at the time of annual breast imaging in a community-based middle to low income metropolitan breast imaging center is practical. Our screening tool identified women with BRCA mutations who would have been otherwise missed. This will have immediate implications for the patient and their family members in regards to increased surveillance and risk reductive surgery discussions.

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DNA damage repair gene mutation testing and genetic counseling in men with/without prostate cancer: a systematic review

Future Oncology ◽

10.2217/fon-2020-0569 ◽

2020 ◽

Author(s):

Nigel Armstrong ◽

Ruben GW Quek ◽

Steve Ryder ◽

Janine Ross ◽

Titas Buksnys ◽

...

Keyword(s):

Prostate Cancer ◽

Systematic Review ◽

At Risk ◽

Dna Damage ◽

Clinical Trials ◽

Genetic Counseling ◽

Mutation Screening ◽

Dna Damage Repair ◽

Mutation Testing ◽

Damage Repair

Background: Ongoing clinical trials are investigating poly(ADP-ribose) polymerase (PARP) inhibitors to target the DNA damage repair (DDR) pathway in prostate cancer. DDR mutation screening will guide treatment strategy and assess eligibility for clinical trials. Materials & methods: This systematic review estimated the rate of DDR mutation testing or genetic counseling among men with or at risk of prostate cancer. Results: From 6856 records, one study fulfilled the inclusion criteria and described men undiagnosed with prostate cancer with a family history of BRCA1/2 mutation who received DDR mutation testing. Conclusion: With only one study included in this first systematic review of DDR mutation testing or genetic counseling in men with or at risk of prostate cancer, more research is warranted.

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Increased ease of access to genetic counseling for low-income women with breast cancer using a point of care screening tool

Journal of Community Genetics ◽

10.1007/s12687-020-00499-9 ◽

2021 ◽

Author(s):

Smita K. Rao ◽

Kimberly A. Thomas ◽

Rajbir Singh ◽

Eden Biltibo ◽

Philip E. Lammers ◽

...

Keyword(s):

Breast Cancer ◽

Genetic Counseling ◽

Low Income ◽

Screening Tool ◽

Point Of Care ◽

Low Income Women ◽

Ease Of Access

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The South African dysphagia screening tool (SADS): A screening tool for a developing context

South African Journal of Communication Disorders ◽

10.4102/sajcd.v63i1.117 ◽

2016 ◽

Vol 63 (1) ◽

Cited By ~ 2

Author(s):

Calli Ostrofsky ◽

Jaishika Seedat

Keyword(s):

At Risk ◽

Acute Stroke ◽

South African ◽

Screening Tool ◽

Diagnostic Assessment ◽

The South ◽

Stroke Patients ◽

Cohen’S Kappa ◽

Cohen's Kappa ◽

Government Hospitals

Background: Notwithstanding its value, there are challenges and limitations to implementing a dysphagia screening tool from a developed contexts in a developing context. The need for a reliable and valid screening tool for dysphagia that considers context, systemic rules and resources was identified to prevent further medical compromise, optimise dysphagia prognosis and ultimately hasten patients’ return to home or work.Methodology: To establish the validity and reliability of the South African dysphagia screening tool (SADS) for acute stroke patients accessing government hospital services. The study was a quantitative, non-experimental, correlational cross-sectional design with a retrospective component. Convenient sampling was used to recruit 18 speech-language therapists and 63 acute stroke patients from three South African government hospitals. The SADS consists of 20 test items and was administered by speech-language therapists. Screening was followed by a diagnostic dysphagia assessment. The administrator of the tool was not involved in completing the diagnostic assessment, to eliminate bias and prevent contamination of results from screener to diagnostic assessment. Sensitivity, validity and efficacy of the screening tool were evaluated against the results of the diagnostic dysphagia assessment. Cohen’s kappa measures determined inter-rater agreement between the results of the SADS and the diagnostic assessment.Results and conclusion: The SADS was proven to be valid and reliable. Cohen’s kappa indicated a high inter-rater reliability and showed high sensitivity and adequate specificity in detecting dysphagia amongst acute stroke patients who were at risk for dysphagia. The SADS was characterised by concurrent, content and face validity. As a first step in establishing contextual appropriateness, the SADS is a valid and reliable screening tool that is sensitive in identifying stroke patients at risk for dysphagia within government hospitals in South Africa.

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Evaluation of the Use of a Diabetes Risk Test to Identify Prediabetes in an Employee Wellness Screening

Journal of Pharmacy Practice ◽

10.1177/0897190021997010 ◽

2021 ◽

pp. 089719002199701

Author(s):

Eileen D. Ward ◽

Whitney A. Hopkins ◽

Kayce Shealy

Keyword(s):

At Risk ◽

American Diabetes Association ◽

Hemoglobin A1c ◽

Screening Tool ◽

Screening Program ◽

Diabetes Risk ◽

Risk Scores ◽

Cutoff Score ◽

Employee Wellness ◽

History Of

Background: The American Diabetes Association (ADA) Diabetes Risk Test (DRT) is a screening tool to identify people at risk for developing diabetes. Individuals with a DRT score of 5 or higher may have prediabetes or diabetes and should see a healthcare provider. Objective: To determine how many additional employees are identified as being at risk for developing diabetes during an employee wellness screening by using a more stringent DRT cutoff score of 4 instead of 5. Methods: During an annual employee wellness screening event, a hemoglobin A1C (A1c) was drawn for participants with a DRT score of > 4 or by request regardless of risk score. A1C values were classified as normal (<5.7%), prediabetes (>5.7 and <6.5%) or diabetes (>6.5%). Risk scores and A1C values were analyzed using descriptive statistics. Cost of additional laboratory testing was also reviewed. Results: An A1C was collected for 158 participants. Fourteen of 50 (28%) participants with a DRT of 4 had A1c values in the prediabetes range and no history of diabetes or prediabetes. Using the lower DRT score of 4 resulted in an additional expenditure of $305 with $85.40 resulting in the identification of an otherwise unaware person at risk for developing diabetes. Conclusion: Using a DRT cutoff score of 4 as part of an employee wellness screening program resulted in additional laboratory costs to identify persons at risk for developing diabetes but also allowed for earlier education to slow or stop the progression to diabetes which may reduce healthcare costs over time.

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