Requisition Forms Research Articles

How Automation in Electronic Medical Records Can Lead to Errors in Dermatology

The integration of electronic health records has revolutionized healthcare by facilitating communication among providers, but it has also introduced significant challenges. In dermatology, a particular issue arises with the use of electronic medical record (EMR) systems that employ auto-populated fields on digital pathology requisition forms (RFs) for skin biopsies. These systems allow for the rapid selection of pre-set descriptions and differential diagnoses, which, while timesaving, frequently lead to diagnostic inaccuracies and potentially detrimental impacts on patient care. Dermatopathologists often receive biopsy specimens with RFs that list multiple provisional diagnoses based on generic, EMR-generated descriptions, which may not accurately represent the patient’s condition. This practice hampers the ability of dermatopathologists to perform effective clinicopathologic correlation, crucial for accurate diagnosis. We highlight that the convenience of EMR systems can discourage clinicians from recording detailed, accurate clinical observations. Consequently, this lack of detailed documentation prevents dermatopathologists from making informed diagnoses by correlating histologic features with clinical appearances. The current practice of using EMRs without consideration for their clinical relevance not only wastes healthcare resources but also poses a significant medico-legal risk. Therefore, refining EMR practices and integrating more comprehensive clinical data will ensure greater accuracy in dermatological diagnoses.

Assessing the Feasibility of a Cancer Biomarker Testing Navigator in the Laboratory

Abstract Introduction/Objective Cancer biomarker testing is a crucial component of precision oncology, as it can guide medical treatment decisions with targeted therapies and immune checkpoint inhibitors. However, complex, fragmented, and inefficient operational processes involved in biomarker testing lead to delays, errors, and variability in testing. One potential solution is to introduce a novel role in the pathology laboratory: the cancer biomarker testing navigator (BTN). Methods/Case Report The American Society for Clinical Pathology (ASCP) conducted a mixed-methods project to assess the current state of biomarker testing operations and explore how a BTN may improve biomarker testing processes. ASCP conducted an online survey, focus groups, and worked with two hospital-based cancer centers on a feasibility pilot. Results (if a Case Study enter NA) Survey and focus group insights reveal several operational challenges around the biomarker testing process. 47 completed the survey and 16 participated in the focus groups. Participants report that biomarker test orders may be incorrect or incomplete. 37% of survey respondents experience delays preparing tissue samples for send-out cancer biomarker testing. 42% of survey respondents are unable to track the processing status of send-out tests. Excessive time is required to coordinate and facilitate send-out tests, especially when multiple reference laboratories are used since each has its own portal, requisition form, specimen requirements, etc. 87% agree they would benefit significantly from having a dedicated person to coordinate and manage cancer biomarker tests. The cancer centers that piloted this role found that they could catch and correct defects such as incorrect test ordered, incorrect specimen types marked on the test order, outdated requisition used, etc. The BTN also found instances where the test report was incomplete or had not been uploaded into the EHR. The BTN role could be justified by evaluating metrics such as task efficiency, workplace satisfaction in the lab, and levels of service satisfaction from oncologists. Patient care can be improved by reducing delays in testing and by reviewing other metrics of quality care delivery. Conclusion The BTN role in the laboratory is a novel solution for ensuring the proper collection and triage of pathology samples for biomarker testing. This role could serve as a liaison between the laboratory and ordering clinicians, provide collection and testing guidance, and help with benchmarking and quality measurement initiatives.

A Quality Improvement Study for Cervical Cancer Screening: Estimating the use of cotesting versus Reflex HPV testing at the time of screening

Abstract Introduction/Objective The recommendations for cervical cancer screening have changed over the years. One of the major changes include inclusion of HPV testing in the screening protocols. A brief scan of our lab data indicated that during the period of Jan-Oct 2023, a small group of women over the age of 30 have not been co-tested. While cytology alone is acceptable, it is less sensitive than other recommended screening options. Therefore, the quality of care these women receive is acceptable but not preferred. We aim to quantify those cases, find reasons why HPV testing was not ordered, and estimate the usage of reflex HPV testing. Methods/Case Report A retrospective analysis was performed of patients screened for cervical cancer with pap testing over 10 months (Jan - Oct 2023) at Geisinger Medical Laboratories. Out of 32849 patients screened for cervical cancer, we identified 546 cases without HPV testing. A chart review of the cases was performed, followed by sending a survey to the respective providers to find out when they prefer reflex HPV testing over cotesting. Results (if a Case Study enter NA) Data analysis showed that 546 out of 32849 cases were screened without co- testing by 102 providers. These providers checked the “HPV if ASCUS” option in the HPV permission section of the cytology requisition form. These cases were diagnosed as Negative for Intraepithelial Lesion on a pap test. We sent a survey to the providers, and responses showed that the reflex HPV testing option is used for patients younger than 30 years by 90% of the providers. Only 10% of providers use cytology alone due to cost issues for patients over 30. Most providers (60%) do not want the reflex testing option to be removed from the HVP permission section. Conclusion The majority of the women above 30 years of age are screened for cervical cancer with co-testing, but a small group (1.6%) is tested with cytology alone mainly due to cost-benefit hence compromising on the sensitivity of the screening test. We recommend the following changes to our cytology requisition form. If the provider selects HPV Reflex testing, the HPV test should be performed in the following scenarios: a) The pap test’s final diagnosis is NIL, and the patient is between ages 30-64. b) The pap test’s final diagnosis is ASCUS, and the patient is between ages 21 and 64. c) The pap test’s final diagnosis is LSIL; the patient is non-pregnant and between ages 25 and 64. Modifying the HPV Reflex option will improve the quality of our patient care and align our practices with current recommendations.

Prevalence of Trichomonas vaginalis Infection in Women Screened for Precursor Lesions of Cervical Cancer in a Brazilian Population

Trichomonas vaginalis infection is one of the most prevalent curable STIs. Although treatments are available, T. vaginalis infections pose a significant challenge, especially in resource-limited regions, as the prevalence of this STI is often unknown. We aimed to determine the prevalence of Trichomonas vaginalis infection in women screened for cervical cancer precursor lesions in Botucatu in São Paulo, Brazil. We conducted a descriptive and retrospective study that included 23,735 women who attended the cervical cancer screening program at health units in 2019 and 2022. Clinical and sociodemographic data were collected from the cancer information system (SISCAN) and test requisition forms. Descriptive analysis was conducted, and comparisons were performed using the X2 Test and Student’s t-test (SigmaPlot version 13.0). The prevalence of T. vaginalis infection was 0.84% in 2019 and 0.57% in 2022. The mean age of patients with trichomoniasis was 42 (±11.2) years; 75% self-reported as white, 43% were married or in a stable relationship, and 40% had not completed primary education. Regarding the vaginal microbiota, only 15.3% of the cytology exams with infection by T. vaginalis showed a predominance of lactobacilli species, while inflammation was present in 82% of the smears. Cytological analysis revealed precursor lesions of cervical cancer in 0.05% of patients with trichomoniasis, including ASC, LSIL, and HSIL. The study showed a low prevalence of infection with T. vaginalis in low-risk women screened for precursor lesions of cervical cancer in Botucatu in São Paulo, Brazil.

Poor compliance with germline testing recommendations in colorectal cancer patients undergoing molecular residual disease testing.

Approximately 15% of colorectal cancers (CRCs) are associated with germline mutations. There is increasing adoption of DNA-based assays for molecular residual disease (MRD) and growing evidence supporting its clinical utility, particularly for CRC by oncologists in the U.S. We assessed the uptake of germline multi-gene panel testing (MGPT) for hereditary cancer in CRC patients receiving MRD analyses in community oncology settings. This retrospective study included 80 patients receiving care for CRC through community oncology practices who were referred for MRD testing at a commercial laboratory (January-March 2022). Clinical data, including test requisition forms, pathology reports, and clinical notes were reviewed. Documentation of tumor microsatellite instability and/or immunohistochemical (IHC) testing for mismatch repair (MMR) deficiency, age of CRC diagnosis, family history of cancer, and any order or recommendation for MGPT were assessed. Overall, 5/80 (6.3%) patients in the study have documented germline MGPT; 65/80 (81.3%) patients have documented MMR testing of their colorectal tumor. Among the 5 cases with abnormal MMR IHC, 2 have MGPT. Of the 33 patients meeting the 2021 National Comprehensive Cancer Network (NCCN) criteria for genetic/familial high-risk assessment, only 2 have MGPT. Our real-world data suggest that many CRC patients receiving MRD testing and meeting NCCN (v. 2021) criteria for germline MGPT may not be receiving evaluation beyond routine MMR status. Process and educational improvements are needed in community health settings to increase access and uptake of germline testing among CRC patients regardless of age at diagnosis or MMR status.

Frequency of ABO and Rhesus (D) blood group among blood donors and blood requisition and utilization patterns: An insight towards optimal blood usage in a tertiary care hospital.

Objective: To determine the distribution and frequency of blood groups among the blood donors and assess the blood requisition and utilization patterns in order to strategize optimal blood utilization. Study Design: Cross-sectional Descriptive study. Setting: Fauji Foundation Hospital, Rawalpindi. Period: January 2021 to January 2024. Methods: Blood bank data including blood donor name, gender, blood groups, blood requisitions, blood issuance and blood utilization was retrieved from Fauji Foundation hospital’s management information system and blood requisition and collection forms. The quality indicators of blood utilization i.e. crossmatch/transfusion ratio and transfusion probability was calculated and analyzed using SPSS 21. Results: 22483 blood donors donated blood at our blood bank facility from January 2021-january 2024. Mean age 31±10.2 years (range: 18–56 years). Majority of the blood donors were males 96.4% (n=21682) while 3.5% (n=801) were females. A total of 21733 were replacement donors while 750 were voluntary donors. The highest blood requests were from obstetrics/gynecology department while the highest blood utilization was by the medicine department. The overall cross match to transfusion ratio was 1.3. The highest cross match to transfusion ratio of 2.5 was from obstetrics/gynecology department while the lowest was from pediatrics and oncology departments. Conclusion: The blood group O positive was the commonest blood group. Although, blood transfusion quality indicators show effective utilization however the pattern varies among different departments. Evidence-based blood utilization strategies need to be implemented for optimal utilization of blood.

Bridging the gaps: A prospective analysis of root causes for rejection and incompleteness in blood requisition forms

IntroductionBlood request form (BRF) stands as a pivotal document in ensuring safe and effective blood transfusions within healthcare settings. Incomplete or erroneous data on BRF can heighten risk of adverse reactions and compromise patient safety. Aim of study was to assess level of completion of BRFs by clinicians and to evaluate root cause analysis (RCA) of incompleteness of BRFs and factors leading to their rejection. Materials and MethodsThis prospective study was carried out from February 2024 to April 2024 on BRFs received in the blood centre. They were audited and RCA for factors leading to their incompleteness and rejection were analysed. ResultsTotal number of BRFs received in blood centre was 14,468. 13,358 (92.3%) BRFs were accepted and 1,110 (7.7%) BRFs were rejected. 12,804 (95.85%) of accepted BRFs were incomplete. Weight was the most common missing parameter (89% {n = 11403}) while name of the requesting clinician was least common (2.5% {n-318}). 3.52% n = 510) BRFs were rejected due to mismatch in name and patient registration number on BRF and samples. 0.14% n = 21) BRFs were rejected due to hemolysed samples. RCA for incompleteness of BRFs showed that main reason was manpower (61–83%) while environment was least common (17–67%). RCA for rejection of BRFs showed that environment was most common cause (13.3–80.15%) while manpower was least common (9–19.85%). ConclusionRegular audits and personnel training, and quality assurance measures can help identify and address deficiencies in BRF completion to enhance patient safety and reduce incidence of transfusion-related errors and complications.

Margin status of basal cell carcinoma: What can be done better?

PurposeGuidelines on clinical margins for basal cell carcinoma (BCC) excisions were recently published, yet ambiguity remains for surgeons and pathologists. The purpose of this study was to determine the incomplete excision rate of BCC, determine factors associated with incomplete excision, and evaluate completeness of reporting between surgeon and pathologist. MethodsA single-centre retrospective analysis was conducted on pathology reports from single excisions of BCC specimens, between January 1, 2019, to December 31, 2020. The primary outcome was incomplete excision rate (positive margins) as reported by pathologist. Logistic regression was used to determine the relationship between incomplete excision rate and anatomical location, pathologist, and surgeon. Completeness of surgeon pathology requisition forms was evaluated qualitatively. ResultsSeven-hundred-and-fifty-six pathology reports were included. The incomplete excision rate was 12% (n=94). The most common site of incomplete excision was head and neck (n=87, 15%), followed by trunk (n=5, 7%), and extremities (n=2, 2%). Five-hundred-and-seventy-nine specimens from 6 surgeons and 9 pathologists were included in the logistic regression analysis. Wald test showed location was significantly associated with incomplete excision (p<0.05), whereas surgeon and pathologist reports were not (p>0.05). Regarding missing information, only 47 (6%) pathology reports included “excision” in the requisition. Four-hundred-and-three (53%) specimens had no clinical history. ConclusionsThe incomplete excision rate found in this study falls within the report range in the literature. Neither surgeon nor pathologist had significant association with incomplete excision. Incomplete excision rate of BCC may be inflated due to lack of standardization in requisition form reporting and pathology reporting.

What Do Clinicians Mean When Submitting a Biopsy as “Rule Out Eczema”

Background: “Eczema” encompasses many dermatological conditions and usually manifests with spongiosis histologically. Dermatopathologists often receive biopsy specimens with requests to “rule out eczema.” However, this broad term is limiting and lacks the necessary clinical context for precise diagnoses. Objective: This study explored the conditions implied by “rule out eczema” when rendered by clinicians and whether they regard it as synonymous with atopic dermatitis or other spongiotic conditions. Understanding this distinction is vital for guiding appropriate treatment which differs among disparate conditions appearing similar histologically. Method: 63 clinicians (54 dermatologists, 5 physician assistants, 4 nurse practitioners) completed a web-based questionnaire. Participants identified conditions considered when requesting to “rule out eczema,” who completed requisition forms, and whether they modify automated EMR phrases to specify these conditions. Results: 83% (52/63) included atopic dermatitis in the differential diagnosis, with “rule out eczema” also referencing nummular eczema (65%), dyshidrotic eczema (54%), contact dermatitis (51%), neurodermatitis (22%), and seborrheic dermatitis (14%). Other conditions included mycosis fungoides, psoriasis, and tinea infections. Most forms were completed by medical assistants (51%) or dermatologists (43%). 81% were modified from the suggested EMR diagnosis before submission. Conclusion: Because “rule out eczema” is nonspecific and conditions may not be readily distinguished with histology alone, it’s recommended that the phrase be discarded in favor of specifying which disorder the clinician is presumptively diagnosing clinically. Because nonspecific phrases such as “dermatitis unspecified” generated by EMR programs are of limited value, it is not recommended to provide these options for clinicians when submitting biopsy specimens.

Pink and Blue of Bones- A Histopathological Analysis of Bony Neoplasm in a Tertiary Hospital of Bihar

Background: Bone lesions have low incidence with diverse presentation and due to the presence of their limited studies it has become a challenging task to reach an accurate diagnosis. Aim and Objective: This study aims in studying variety of bony lesions observed clinically and histopathologically. Further categorizing into non neoplastic, tumour-like, benign tumour or malignant tumour and determining its correlation with the age and gender predisposition of these lesions. Materials and Methods: An ambispective study was executed in Pathology department , PMCH, Patna from May 2020 to April 2024 in which a total of 102 cases were collected. The necessary information for the retrospective analysis, such as the patient's age, sex, lesion location, and diagnosis, was obtained from the requisition form and the histopathology data kept in the department of pathology from May 2020 to May 2022. And for prospective study all the radiological proven bony lesions which were excised during period of May 2022 to April 2024 and were sent for histopathological examination were examined. Results: Non-neoplastic lesions were more common than neoplastic lesions among the 102 specimens that underwent histological examination (53 versus 49). With 21.5% of cases, tuberculous osteomyelitis was the most prevalent non-neoplastic lesion. The most common benign neoplastic lesion detected was a giant cell tumor of the bone (11.76%), while the most common malignant lesion found was osteosarcoma (2.94%). Conclusion: To improve patient management and diagnosis accuracy, it is advised to utilize clinical, radiological, and histological findings in an integrated manner.

Prevalence of Occult Ovarian Cancer and Metastatic Breast Cancer in Ovarian Ablation Specimens of Patients With Hormone Receptor-Positive Breast Cancer: Implications for Tissue Sampling Strategies, Early Ovarian Cancer Detection and Resource Utilization.

Bilateral oophorectomy is one method of hormone suppression for premenopausal patients with hormone receptor-positive breast cancer. Such specimens could, in theory, harbor occult early ovarian cancer and/or metastatic breast cancer but guidelines for tissue sampling for pathologic examination remain to be addressed. Therefore, we evaluated oophorectomy specimens from 166 patients who underwent ovarian ablation for hormone receptor-positive breast cancer. Results of germline genetic testing were documented by the surgeon in only 31.3% of the pathology specimen requisition forms, whereas that information was available for 81.3% of patients elsewhere in the electronic medical records. All but 5.2% tested negative for a hereditary ovarian cancer gene pathogenic variant before oophorectomy. Complete tissue sampling was performed in 77.1% of the cases and representative sampling in the remainder. No cases of ovarian cancer were observed. Ovarian metastasis of breast cancer was identified in 9.6% of patients, all of whom were already known to have advanced-stage disease. The number of tissue cassettes per ovary required for complete tissue submission was on average three times higher than that for representative tissue sampling (P < 0.01) and ranged up to 20 cassettes per ovary when multiple follicle cysts were present. We propose that guidelines for tissue sampling in this context be defined by a combination of hereditary risk and macroscopic examination; representative sampling is reasonable for macroscopically normal ovaries in hormone receptor-positive breast cancer patients whose germline genetic testing is negative. Positive genetic test results merit complete tissue submission even if macroscopically normal. This strategy balances the goals of early ovarian cancer detection and optimal resource utilization. However, it depends on clear documentation of genetic test results. Our study demonstrates that many opportunities remain to close gaps in the communication of genetic test results by clinicians submitting oophorectomy specimens for pathologic evaluation.

Improving Intraoperative Parathyroid Hormone Specimen Handling and Processing.

Surgeons request intraoperative parathyroid hormone (PTH) monitoring during parathyroidectomy procedures to confirm identification of abnormal gland tissue. Generally, a 50% decrease in the baseline PTH level indicates the abnormal tissue has been removed. A delay in collecting and processing PTH blood samples can complicate intraoperative decision making and prolong the procedure. The purpose of this quality improvement project was to develop tools to facilitate the specimen management process (eg, requesting, transporting, analyzing) for PTH blood samples and decrease the average total time required for transit and assay. We implemented a two-pronged initiative that involved improving the laboratory requisition form and creating a parathyroid tote box to contain all the needed information and supplies. The average total time for transit and assay decreased from 31.36 minutes before implementation to 22.06 minutes after implementation. Perioperative nurses expressed satisfaction with the changes and continue to use the revised process.

Characterization of Von Hippel Lindau gene variants by race.

e15158 Background: Autosomal dominant (AD) pathogenic/ likely pathogenic (P/LP) variants in the VHL gene cause Von Hippel Lindau syndrome, historically studied in White populations. We aimed to characterize VHL variants and disease phenotypes in both Non-White (NW) patients, which include Asian and African-American (AA), and in Non-Hispanic White (NHW) patients. Methods: Patients undergoing germline genetic testing (GGT) at Invitae Corporation from November 2014 to March 2022, carrying a P/LP AD variant in VHL gene were identified. Demographic and clinical data were obtained from Test requisition forms. Fisher's exact test and Wilcoxon rank-sum tests were performed for categorical and continuous variables, respectively, to compare groups. Results: The final analysis included 363 patients (NW=27%). Hemangioblastoma was predominant in all groups (NHW=13%, NW=27%, p=0.004). Breast cancer exclusively occurred in NHW patients (7%, p=0.019). NHW and NW patients had a higher family history of breast cancer (NHW=7%, NW=1%, p=0.046) and hemangioblastoma (NHW=3%, NW=8%, p=0.037), respectively. Distribution of VHL variants between NW and NHW patients varied significantly (p&lt;0.001, Indels p=0.009, substitution variants p&lt;0.001). Deletion exon 2 was predominant in all groups (NHW=15%, NW=35%) P.Leu188Val was exclusive to NHW patients (26%)while p.Arg167Trp (NHW=6%, NW=11%) and p.Arg167Gln (NHW=2%, NW=10%) were more common in NW patients. Several unique variants in AA and Hispanic patients were seen. Conclusions: This study reveals differences in P/LP VHL variant distribution and disease phenotype between NHW and NW races. Ethnicity-specific characterization uncovers unique variants in AA and Hispanic patients. This dataset informs future research on VHL disease and treatment in diverse populations.

Policy and laboratory practice: How quality control procedures for genetic testing perpetuate biological essentialism and discrimination against transgender, gender diverse, and intersex people.

Transgender, gender diverse, and intersex (TGDI) individuals face significant health disparities due to individual and systemic experiences of discrimination, impacting their access to healthcare. While clinical genetic testing has become increasingly accessible to the general population, the field of clinical genetics perpetuates a narrative of biological essentialism, which creates barriers for TGDI patients. Biological essentialism upholds that sex is a binary, fixed, and innate characteristic, a misconception that has been historically weaponized against the TGDI community in both individual experiences of discrimination and anti-trans legislation, among other systemic forms of oppression. Rejecting this discriminatory framework requires careful consideration of, and changes to, long-established practices that often go unquestioned, such as quality control metrics in genetic testing, in order to improve TGDI patients' outcomes and access to genetic services. The sex-check, comparing an individuals reported sex against their sex chromosomes, is an example of how laboratory genetics practices reinforce the narrative that sex is determined purely by chromosomal composition. Additionally, the sex-check "outs" TGDI people in clinical settings, creating a discriminatory and unsafe environment for these patients. Alternative quality control procedures and inclusive practices, such as clearer delineation of sex and gender on test requisition forms, are proposed to improve TGDI patient experiences. Genetic counselors and other clinical providers have a responsibility to address historical discrimination and advocate for changes to laboratory practice, so as to create affirming experiences for TGDI patients.

Abstract PO1-08-08: Hereditary cancer genetic testing in Puerto Rican females

Abstract Background: Puerto Rico is a Caribbean Island and unincorporated United States territory with a population of approximately 3.2 million. The incidence of breast cancer in Puerto Rico is estimated at 57.5 per 100,000 females with a mortality rate of 13.0 per 100,000 females. A recent study of hereditary breast and ovarian cancer syndrome across countries in the Caribbean reported a combined positive detection rate of 14.2% using a similar multi-gene panel to the one described here. Positive rates ranged from 5.5% to 28.3% per country, but sample sizes were limited, ranged from 61 to 298 participants per country, and did not include Puerto Rico. To provide insight into the incidence of inherited tumor predisposition syndromes in less studied populations, we analyzed the demographics and germline genetic findings for a cohort of Puerto Rican females largely ascertained based on a personal and/or family history of breast cancer. Methods: This retrospective study includes 949 consecutive female individuals who underwent genetic testing at a single clinical laboratory (PreventionGenetics LLC) using a multi-gene panel test of 29 genes associated with hereditary cancer. Clinical information was obtained from health care provider-completed test requisition forms. Next Generation Sequencing (NGS) with copy number variant (CNV) detection was performed on patient-derived DNA using the Illumina NovaSeq 6000 platform (Illumina, San Diego, CA, USA) and Sanger sequencing as necessary. Results: The median age at testing was 55.5 years and ranged from 19.1 to 90.0 years of age. Of the total cohort, 713 (75.1%) individuals had a personal history of breast cancer with or without additional cancer types; 43 (4.5%) individuals had non-cancerous breast findings, and 49 (5.2%) individuals had a personal history of other types of cancer(s). The remaining 144 (15.2%) individuals did not specify a personal history, but the vast majority did indicate a family history of cancer (n=133; 93.8%). Comparably, 572 (60.3%) of the individuals with a personal history of cancer or of non-cancerous breast findings reported a family history of cancer. The median age at onset for breast cancer was 53 years (n=472; range=24-89 years). A total of 90 (9.5%) individuals had a pathogenic (P) or likely pathogenic (LP) and 3 (0.3%) of individuals harbored the APC I1307K risk variant. Of the 90 individuals with positive findings, 31.1% had a P/LP variant in BRCA2, 28.0% in MUTYH, 11.8% in CHEK2, 7.5% in BRCA1, in 6.5% BRIP1, and 11.8% in ATM, CDKN2A, MSH6, NBN, PALB2, RAD51C, RAD51D, and RET. The most frequently reported pathogenic variants were MUTYH p.Gly396Asp (n=20), BRCA2 p.Glu1308* (n=16), and BRCA2 p.Asn1933Lysfs*29 (n=6). A recurrent pathogenic deletion of the upstream and exon 2 region of BRCA1 was also identified in three individuals. The indeterminate and negative rates were 36.5% (n=346) and 53.7% (n=510), respectively. Conclusion: Although the present study was limited to biological females and included individuals with broader personal and family cancer histories, the positive rate is within range of those reported for other countries in the Caribbean. Interestingly, P/LP variants have been reported to be enriched in BRCA1, BRCA2, and PALB2 across other Caribbean countries; however, this was not mirrored in the pattern of positive findings for this cohort of Puerto Rican females and may suggest a distinct background for hereditary cancer predisposition in this population. Further studies are needed to understand the landscape of germline variants in this population to ensure proper surveillance and risk mitigation is applied. Citation Format: Hannah Cox, Deborah Hartzfeld, Shawn Gessy, Christina Zaleski, Jerry Machado. Hereditary cancer genetic testing in Puerto Rican females [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO1-08-08.

Abstract PO5-04-04: Development of a method to detect very low levels of HER2 expression in Circulating Tumor Cells (CTCs) by liquid biopsy in patients with metastatic breast cancer

Abstract Introduction Blood-based liquid biopsies are a non-invasive diagnostic approach for detecting circulating tumor cells (CTCs) or circulating tumor DNA (ctDNA) that may provide clinically actionable information for treatment decisions for metastatic breast cancer (MBC) patients when a conventional tissue biopsy is not feasible. Recently, the novel anti-HER2 antibody-drug conjugate, Trastuzumab Deruxtecan (T-DXd), has shown effectiveness against MBC with low HER2 expression detected by tissue biopsy characterized as HER2-low (immunohistochemically 1+ or 2+ and ERBB2 amplification-negative via in situ hybridization) and is being explored in an ultra-low population. Here we report on the application of a liquid biopsy platform designed to sensitively detect low levels of HER2 protein expression in CTCs from MBC patients. Methods Blood samples from 704 metastatic breast cancer patients as well as control cells lines were collected for cell-based and cell-free DNA analysis. After plasma isolation, nucleated cells deposited on glass slides went through immunofluorescent staining and imaging. CTCs were identified using Epic Sciences’ digital imaging and machine learning algorithms, and a subset of CTCs were isolated and sequenced for genomic quantification of large scale-state transitions (LSTs) as well as copy number variants (CNVs). The HER2 status was based upon on ASCO-CAP guidelines and the previous tissue biopsy results from the ordering healthcare provider, as documented on the DefineMBC™ test requisition form. Results Within a DefineMBC early-access program (EAP), 93% of patients with MBC had detectable CTCs. Among ERBB2-non-amp patients tested with the DefineMBC assay, 25% of patients with MBC had findings that were reported as consistent with HER2-low in the CAP-CLIA setting. To explore the lower boundaries of HER2 protein expression, we created and validated an MCF-7 HER2-negative ERBB2 knock-out cell line and utilized its 95% confidence level threshold (271 MFI) as a negative fluorescence cutoff for very low HER2 expression. Based upon publicly available CCLE datasets, MDA-MB-453, MCF7, and MCF7 ERBB2 KO breast cancer cell lines were selected for their high and low HER2 RNA expression levels and were corroborated via observed HER2 immunofluorescence median levels of 15740, 381, and 188 MFI respectively. In an exploratory analysis, among ERBB2-non-amp patients, we retrospectively applied the 271 MFI HER2 cutoff to the EAP cohort and identified 38% of patients with very low HER2 expression. We examined the impact of the HER2 ultra-low cutoff in patients not eligible for T-DXd treatment. Among patients reported as IHC=0 or with unknown IHC status from the most recent tissue biopsy, 44% and 42%, respectively, may qualify for treatment with T-DXd. Conclusion Using our higher sensitivity assay that combines CTC immunofluorescence and single-cell genomic analysis, we examined the lower boundary of HER2 protein expression. Feasibility data support further characterization of a very low HER2 expression phenotype, for the eventual inclusion into our comprehensive cancer profiling solution. To date, studies with biomarker expression have been limited to tissue biopsy, which may not always yield contemporaneous sampling in the metastatic setting. These results offer a liquid biopsy test that might identify patients potentially responsive to HER2-directed therapies. Citation Format: Giuseppe Di Caro, David Bourdon, Andrew Kunihiro, Alessandra Cunsolo, Ernest Lam, Megan Slade, Martin Blankfard, Lee Schwartzberg. Development of a method to detect very low levels of HER2 expression in Circulating Tumor Cells (CTCs) by liquid biopsy in patients with metastatic breast cancer [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO5-04-04.

Use of Coolsticks in district general hospital

Introduction: Ethyl chloride spray is conventionally used for testing cold sensation during spinal or epidural blocks.Coolsticks are reusable, durable, non-toxic stainless steels wants that can be cooled and are a cheaper alternative to ethyl chloride spray. The aim of this studd was to estimate the cost and carbon savings of switching from ethyl chloride spray to Coolstick use. Methods: The use of Coolsticks at a single district general hospital’s (Good Hope Hospital, Sutton Coldfield, UK) main theatres was audited in July 2023. The volume of ethyl chloride use in the obstetric theatre in 2022-23 was calculated based on pharmacy requisition forms. Estimates of CO2 equivalent emissions per stick and per ethyl chloride spray use were based on published data (Green Ward study from Dorset). Cost and CO2 equivalent emissions savings with cold sticks were calculated and extrapolated onto all seven theatres within Good Hope Hospital. Results: Only 25% of anaesthetists used Coolsticks, despite all being aware of their availability. The main reason stated for this was “adherence to usual practice”. In the obstetric theatre in 2022-23, 104 cans of ethyl chloride were used. Switching to Coolstick use would save £2,080 and 1,693kg CO2 equivalent per theatre per year. Extrapolating across the hospital, the potential saving was £14,560 and 11,852 kg CO2 equivalent per year. Conclusion: Use of Coolsticks is cost-saving and carbon-efficient. National associations should consider publishing formal recommendations to support their uptake. Research around clinical efficacy and patient satisfaction would speed uptake into clinical practice.

Doctors' perspectives on the quality of medical imaging in public hospitals in eThekwini District.

There is a paucity of literature on perspectives of referring doctors about the quality of medical imaging services and this study closes this gap in literature. This quality assurance (QA) study aimed to explore the perspectives of doctors on the quality of medical imaging services in selected regional hospitals within eThekwini District of KwaZulu-Natal. The study was conducted in four public regional hospitals. An exploratory descriptive qualitative research design involving 30 min-45 min of in-depth individual interviews was used. A purposive sampling technique was used to select research participants and hospitals to ensure adequate responses to the research questions. The sample involved nine participants and was guided by data saturation. Responses were recorded through notes and voice recordings and thematic analysis was used to analyse data. Three main themes (timeliness of examinations, communication and radiology reports and image quality) and eight subthemes (waiting times, shortage of radiographers, workload, communication between doctors and radiographers, requisition forms, unavailability of radiology reports, clarity of images and image acquisition protocols) emerged from the data. Challenges experienced were exacerbated by high workload and shortage of radiologists and radiographers. Doctors in the data collection sites were mainly dissatisfied with services provided by the medical imaging departments. Regular engagements between medical imaging departments and doctors are important in enhancing the provision of quality care to patients. In-service training of radiographers and employment of additional radiographers and finding solutions to mitigate shortage of radiologists are recommended. This quality assurance (QA) study focused on experiences of doctors while many other medical imaging QA studies in South Africa are equipment based. In-service training of radiographers is recommended to improve image quality and communication skills.

One of these is not like the others: A descriptive study of the attenuated phenotype of PMS2.

76 Background: Data from Lynch syndrome (LS) registries reveal that patients (pts) with PMS2 pathogenic germline variants (PGVs) have the lowest cancer risk. This retrospective study of pts undergoing germline genetic testing (GGT) for any indication compared the phenotypes of PMS2 carriers to other LS pts. We hypothesized that PMS2 pts were more likely to have no cancer or non–LS associated cancers than other LS pts. Methods: All Pts with a single PGV in any LS gene were identified from a commercial laboratory database. Demographics and personal and family cancer history data were clinician-reported on the test requisition form. Data from PMS2 pts were compared to MSH6 and MLH1/MSH2/EPCAM pts using descriptive statistics, unpaired two-samples t tests, Chi-square tests, and multivariate logistic regression analyses that also included patients with no PGVs, with p&lt;0.05 defining significance. Results: 17,711 pts met inclusion criteria (5,189 PMS2, 5,182 MSH6, and 7,340 MLH1/MSH2/EPCAM). PMS2 pts were significantly older at testing (mean 55.1±16.0y) than MLH1/MSH2/EPCAM (48.7±15.7y) and had significantly less family cancer history (84.9%) than both MSH6 (86.8%) and MLH1/MSH2/EPCAM (86.6%) pts. PMS2 pts had lower odds of any colorectal and uterine cancers than the MSH6 and MLH1/MSH2/EPCAM cohorts (Table). All LS-related PGVs were significantly associated with lower odds of breast, pancreatic, and prostate cancer. Conclusions: Pts with PMS2 PGVs were older at the time of testing and had lower odds of any and LS-related cancers than other LS pts. These data are consistent with prior registry studies and can aid in counseling and management of PMS2 pts. [Table: see text]

Correlation of Cyclic Threshold Values Generated by GeneXpert Ultra MTB/RIF and Fluorescence Microscopy to Predict Mycobacterial Burden in Suspected Cases of Pulmonary Tuberculosis.

Smear microscopy for acid-fast bacilli visualization is important to assess the infectivity rate in patients with pulmonary tuberculosis (PTB), but it has limited sensitivity; hence, it is important to find an alternative strategy. The aim of our study was to compare the fluorescence microscopy grading by Auramine O phenol staining technique of respiratory samples with the cyclic threshold (Ct) values of GeneXpert Ultra (Mycobacterium tuberculosis/rifampicin [MTB/RIF]) and assess the diagnostic efficacy of GeneXpert Ultra (MTB/RIF) compared to microscopy in suspected cases of PTB. The study was conducted in the Mycobacteriology Laboratory, Department of Microbiology, in Kasturba Hospital, Manipal. The study was a prospective, single-centered, cross-sectional study. Four hundred and fifty-two respiratory samples were included in the study. An optimal Ct cutoff value for ruling smear-positivity and smear-negativity and the mean Ct cutoff value were calculated. Clinical and radiological data from the requisition forms were assessed. IBM SPSS statistics software version 22 was used. The correlation between GeneXpert Ultra (MTB/RIF) Ct values and smear status was calculated by polychoric correlation. The extended McNemar's test was used to find the association between the variables. GeneXpert Ultra (MTB/RIF) yielded a higher positivity rate of 22.2% compared to smear microscopy 17.2%. Ct value and smear grading yielded a positive correlation (P = 0.8681; P < 0.05). GeneXpert Ultra (MTB/RIF) yielded nontuberculous mycobacteria in five undetected cases and speciated as Mycobacterium abscessus complex. Our study confirms the GeneXpert Ultra (MTB/RIF) Ct value levels as a predictor of smear positivity.