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1790 citation(s) found for "Yu, Stephanie".

Why U.S. Patients Declined Hospital-at-Home during the COVID-19 Public Health Emergency: An Exploratory Mixed Methods Study
Paulson, Nels , Paulson, Margaret P., Maniaci, Michael J. , Rutledge, Rachel A., Inselman, Shealeigh A., Zawada, Stephanie , Inselman, Shealeigh, Zawada, Stephanie K , Maniaci, Michael J , Rutledge, Rachel

Mayo Clinic

Journal of Patient Experience | August 8, 2023 | Volume: 10 | Issue: No issue available | Pages: No page available

10.1177/23743735231189354 | PMID 37560532 Get It

To understand why US patients refused participation in hospital-at-home (H@H) during the coronavirus disease 2019 Public Health Emergency, eligible adult patients seen at 2 Mayo Clinic sites, Mayo Clinic Health System—Northwest Wisconsin region (NWWI) and Mayo Clinic Florida (MCF), from August 2021 through March 2022, were invited to participate in a convergent-parallel study. Quantitative associations between H@H participation status and patient baseline data at hospital admission were investigated. H@H patients were more likely to have a Mayo Clinic patient portal at baseline ( P-value: .014), indicating a familiarity with telehealth. Patients who refused were more likely to be from NWWI ( P-value < .001) and have a higher Epic Deterioration Index score ( P-value: .004). The groups also had different quarters (in terms of fiscal calendar) of admission ( P-value: .040). Analyzing qualitative interviews (n = 13) about refusal reasons, 2 themes portraying the quantitative associations emerged: lack of clarity about H@H and perceived domestic challenges. To improve access to H@H and increase patient recruitment, improved education about the dynamics of H@H, for both hospital staff and patients, and inclusive strategies for navigating domestic barriers and diagnostic challenges are needed.
History of infertility and sexual dysfunction in midlife women: Is there a link?
Saadedine, Mariam , Kling, Juliana M. , Kuhle, Carol L. , Mara, Kristin C. , Kapoor, Ekta , Kling, Juliana M , Kuhle, Carol, Mara, Kristin, Enders, Felicity , Mara, Kristin C , Faubion, Stephanie S. , Shufelt, Chrisandra , Kapoor, Ekta

Mayo Clinic

The Journal of Sexual Medicine | August 4, 2023 | Volume: 20 | Issue: 9 | Pages: 1188-1194

10.1093/jsxmed/qdad097 | PMID 37537692 Get It

AbstractBackgroundInfertility has been linked with an increased risk of sexual dysfunction in reproductive-aged women, with longer periods of infertility associated with a greater risk.AimThe study’s aim was to examine whether a history of infertility treatment in women is linked to sexual dysfunction during midlife.MethodsThe cross-sectional study was conducted among sexually active women, between the ages of 45 and 65 years, who sought consultation at the women’s health clinics at a US tertiary care center. History of infertility treatment was assessed with a single question that asked participants if they were treated for infertility in the past. The association between a history of infertility treatment and sexual dysfunction—which was diagnosed by a combination of Female Sexual Function Index score ≤26.55 and Female Sexual Distress Scale–Revised score ≥11—was assessed in a multivariable logistic regression model that adjusted for multiple confounders.OutcomesThe primary outcome was sexual dysfunction in midlife women.ResultsThe analysis included 5912 women, with a mean age of 54.1 years. Nearly 16% of women reported receiving treatment for infertility. More than half the women (55%) had sexual dysfunction: 56.3% of those with previous fertility treatments and 54.4% of those without any fertility treatment (P = .3). Receiving treatment for infertility in the younger years did not significantly increase the odds of sexual dysfunction in midlife in univariate (odds ratio, 1.08; 95% CI, 0.94-1.24; P = .3) and multivariable analyses (odds ratio, 1.11; 95% CI, 0.96-1.29; P = .17).Clinical ImplicationsWhile infertility is known to be predictive of sexual dysfunction in women during their reproductive years, there was no association between a history of infertility treatment and sexual dysfunction in midlife women in the current study.Strengths and LimitationsThe study used validated questionnaires accounting for sexual complaints and distress and adjusted for multiple confounding factors. Limitations include the selection bias introduced by the study of women presenting for evaluation of sexual dysfunction, which may have been a result of factors stronger than the influence of infertility. Other limitations include the study’s cross-sectional nature with suboptimal racial and ethnic representation.ConclusionAlthough infertility is commonly associated with female sexual dysfunction in women of reproductive age, the association was not present in midlife women in the current study.
Evaluation of safety and care outcomes after the introduction of a virtual registered nurse model
Savitz, Samuel T. , Frederick, Ryannon K., Sangaralingham, Lindsey R. , Anderson, Stephanie S., Bell, Sarah J. , Lampman, Michelle A. , Habermann, Elizabeth B.

Mayo Clinic

Health Services Research | August 1, 2023 | Volume: 58 | Issue: 5 | Pages: 999-1013

10.1111/1475-6773.14208 | PMID 37525521 Get It

AbstractObjectiveTo evaluate the impact of a virtual registered nurse (ViRN) model on safety and care outcomes. ViRN is a telemedicine intervention that enables an experienced virtual nurse to assist the in‐person care team in providing care to patients.Data Sources and Study SettingElectronic health records data were utilized from the Mayo Clinic during the intervention (December 2020–November 2021) and historical periods (December 2018–November 2019). ViRN was implemented on general medical units at the Mayo Clinic Rochester. We used general medical units at the Mayo Clinic Arizona as the comparison group.Study DesignThis study used a difference‐in‐differences design to evaluate the impact of ViRN compared to usual care on transfer to the intensive care unit (ICU), inpatient mortality, and length of stay (LOS). We used logistic regression for transfer to the ICU and inpatient mortality and negative binomial regression for LOS. We controlled for demographics, patient interaction with the health system, clinical characteristics, and admission characteristics. We clustered standard errors to account for patients who have multiple admissions during the study period.Principal FindingsThere were no significant differences for transfer to the ICU (average marginal effect (AME) −0.08 percentage point [95% confidence interval (CI): −1.34, 1.18]), inpatient mortality (AME 0.43 percentage point [95% CI: −0.33, 1.18]), or LOS (AME −0.20 days [95% CI: −0.57, 0.17]). The findings were mostly consistent across the sensitivity analyses.ConclusionsOur results suggest that ViRN led to similar outcomes as usual care in general medical units. These findings support the potential to develop more advanced models of ViRN at the Mayo Clinic and the dissemination of the ViRN model to other systems. In the context of staffing shortages and other disruptions to the delivery of nursing care, it is critical to understand whether new models like ViRN provide nurse staffing alternatives without negatively affecting outcomes.
Outcomes After Preoperative Chemoradiation With or Without Pazopanib in Non-Rhabdomyosarcoma Soft Tissue Sarcoma: A Report From Children's Oncology Group and NRG Oncology
Weiss, Aaron R. , Scharschmidt, Thomas J. , Xue, Wei , Gao, Zhengya, Black, Jennifer O. , Choy, Edwin , Fanburg–Smith, Julie C. , Kao, Simon C. , Kayton, Mark L. , Kessel, Sandy, Lim, Ruth , Million, Lynn , Okuno, Scott H. , Ostrenga, Andrew , Parisi, Marguerite T. , Pryma, Daniel A. , Rosen, Mark, Terezakis, Stephanie , Venkatramani, Rajkumar , Zambrano, Eduardo , Wang, Dian , Hawkins, Douglas S. , Black, Jennifer O , Choy, Edwin , Kao, Simon C , Kayton, Mark L , Lim, Ruth , Million, Lynn , Okuno, Scott , Ostrenga, Andrew , Pryma, Daniel A , Randall, Robert Lor , Shulkin, Barry L , Terezakis, Stephanie A , Venkatramani, Rajkumar , Wang, Dian , Hawkins, Douglas S , Spunt, Sheri L , Weiss, Aaron R , Chen, Yen‐Lin , Davis, Jessica L. , Randall, R. Lor , Shulkin, Barry L. , Spunt, Sheri L.

Mayo Clinic

Journal of Clinical Oncology | July 31, 2023 | Volume: 41 | Issue: 31 | Pages: 4842-4848

10.1200/jco.23.00045 | PMID 37523624 Get It

Clinical trials frequently include multiple end points that mature at different times. The initial report, typically based on the primary end point, may be published when key planned co-primary or secondary analyses are not yet available. Clinical Trial Updates provide an opportunity to disseminate additional results from studies, published in JCO or elsewhere, for which the primary end point has already been reported. ARST1321 was a phase II study designed to compare the near complete pathologic response rate after preoperative chemoradiation with/without pazopanib in children and adults with intermediate-/high-risk chemotherapy-sensitive body wall/extremity non-Rhabdomyosarcoma Soft Tissue Sarcoma (ClinicalTrials.gov identifier: NCT02180867 ). Enrollment was stopped early following a predetermined interim analysis that found the rate of near complete pathologic response to be significantly greater with the addition of pazopanib. As a planned secondary aim of the study, the outcome data for this cohort were analyzed. Eight-five eligible patients were randomly assigned to receive (regimen A) or not receive (regimen B) pazopanib in combination with ifosfamide and doxorubicin + preoperative radiotherapy followed by primary resection at week 13 and then further chemotherapy at week 25. As of December 31, 2021, at a median survivor follow-up of 3.3 years (range, 0.1-5.8 years), the 3-year event-free survival for all patients in the intent-to-treat analysis was 52.5% (95% CI, 34.8 to 70.2) for regimen A and 50.6% (95% CI, 32 to 69.2) for regimen B ( P = .8677, log-rank test); the 3-year overall survival was 75.7% (95% CI, 59.7 to 91.7) for regimen A and 65.4% (95% CI, 48.1 to 82.7) for regimen B ( P = .1919, log-rank test). Although the rate of near complete pathologic response was significantly greater with the addition of pazopanib, outcomes were not statistically significantly different between the two regimens.
Creating an appetite awareness and lifestyle modification intervention for Black women at risk for binge eating disorder: A pilot open trial
Goode, Rachel W. , Bardone‐Cone, Anna M. , Wilhoit-Reeves, Stephanie B., Williams, Lesley, Malian, Hannah M., Coan, Danielle, Noem, Taylor, Tate, Deborah F. , Tate, Deborah F

Mayo Clinic

Clinical Obesity | July 28, 2023 | Volume: 13 | Issue: 6 | Pages: No page available

10.1111/cob.12613 | PMID 37501401 Get It

SummaryDespite the availability of evidence‐based interventions to improve binge eating, Black women have some of the lowest rates of access to care for eating disorders. Innovation is needed to offer accessible and culturally relevant treatment options. To this end, using an open trial design, we investigated the feasibility and acceptability of a group‐based, appetite awareness training (AAT) + lifestyle modification (LM) programme in Black women at risk for BED in a primary care setting. Participants (n = 20) were Black women recruited from a family medicine centre affiliated with a local public university, and who reported at least two binge eating episodes in the last 28 days. Participants completed a 16‐session AAT + LM programme over 4 months. Key outcomes were objective binge eating (assessed by the EDE and the EDE‐Q), body dissatisfaction, and weight change, all assessed at baseline, four (post‐treatment) and 6 months (2‐month follow‐up). Ninety‐five percent of participants completed assessments at post‐treatment and attended nearly 60% of intervention sessions. Among completers (n = 19), body dissatisfaction and objective binge eating decreased from baseline to post‐treatment and this decrease was maintained at the 2‐month follow‐up. In exit interviews, participants reported programme satisfaction. Providing training in appetite awareness combined with lifestyle modification principles may be useful in the treatment of body dissatisfaction and binge eating among Black women.
Comparison of Outcomes Between Surveillance Ultrasound and Completion Lymph Node Dissection in Children and Adolescents With Sentinel Lymph Node-Positive Cutaneous Melanoma
Scoville, Steven D. , Rinehardt, Hannah , Sutthatarn, Pattamon , Abdelhafeez, Abdelhafeez H. , Tracy, Elisabeth T. , Favela, Juan , Davidson, Jacob , Wilson, Claire A. , Seemann, Natashia M. , Osman, Yasmin, Piché, Nelson , Hoang, Victoria, Polites, Stephanie F. , McKay, Katlyn G. , Correa, Hernán , Lovvorn, Harold N. , Lee, Yu M., Balagani, Akshitha, Dasgupta, Rohni, Dasgupta, Roshni , Tracy, Elisabeth T , Dasgupta, Roshni , Stanek, Joseph , Talbot, Lindsay J , Malek, Marcus M. , Leraas, Harold J. , Chen, Stephanie , Kim, Eugene S. , Lotakis, Dimitra M. , Ehrlich, Peter F. , Le, Hau D. , Petroze, Robin T. , Aldrink, Jennifer H.

Mayo Clinic

Annals of Surgery | July 24, 2023 | Volume: 279 | Issue: 3 | Pages: 536-541

10.1097/sla.0000000000006022 | PMID 37487006 Get It

Objective: To determine the impact of nodal basin ultrasound (US) surveillance versus completion lymph node dissection (CLND) in children and adolescents with sentinel lymph node (SLN) positive melanoma. Background: Treatment for children and adolescents with melanoma are extrapolated from adult trials. However, there is increasing evidence that important clinical and biological differences exist between pediatric and adult melanoma. Methods: Patients ≤18 years diagnosed with cutaneous melanoma between 2010 and 2020 from 14 pediatric hospitals were included. Data extracted included demographics, histopathology, nodal basin strategies, surveillance intervals, and survival information. Results: Of 252 patients, 90.1% (n=227) underwent SLN biopsy (SLNB), 50.9% (n=115) had at least 1 positive node. A total of 67 patients underwent CLND with 97.0% (n=65/67) performed after a positive SLNB. In contrast, 46 total patients underwent US observation of nodal basins with 78.3% (n=36/46) of these occurring after positive SLNB. Younger patients were more likely to undergo US surveillance (median age 8.5 y) than CLND (median age 11.3 y; P=0.0103). Overall, 8.9% (n=21/235) experienced disease recurrence: 6 primary, 6 nodal, and 9 distant. There was no difference in recurrence (11.1% vs 18.8%; P=0.28) or death from disease (2.2% vs 9.7%; P=0.36) for those who underwent US versus CLND, respectively. Conclusions: Children and adolescents with cutaneous melanoma frequently have nodal metastases identified by SLN. Recurrence was more common among patients with thicker primary lesions and positive SLN. No significant differences in oncologic outcomes were observed with US surveillance and CLND following the identification of a positive SLN.
E-AHPBA–ESSO–ESSR Innsbruck consensus guidelines for preoperative liver function assessment before hepatectomy
Primavesi, Florian , Maglione, Manuel , Cipriani, Federica , Denecke, Timm , Oberkofler, Christian E. , Dasari, B. , Heil, Jan , Sgarbură, Olivia , Søreide, Kjetil , Díaz-Nieto, Rafael, Geisel, Dominik , Henninger, Benjamin , Hessheimer, Amelia J. , Mole, Damian J. , Reiberger, Thomas , Schnitzbauer, Andreas A. , Sparrelid, Ernesto , Stockmann, Martin , Truant, Stéphanie , Aldrighetti, Luca , Braunwarth, Eva , D’Hondt, Mathieu , DeOliveira, Michelle L., Erdmann, Joris I. , Kaczirek, Klaus , Malik, Hassan , Öfner, Dietmar , Rahbari, Nuh N. , Göbel, Georg , Siriwardena, Ajith K. , Dasari, Bobby V M , Sgarbura, Olivia , Søreide, Kjetil , Lesurtel, Mickaël , Mole, Damian , Schnitzbauer, Andreas A , Aldrighetti, Luca , Erdmann, Joris I , Gruenberger, Thomas , Öfner, Dietmar , Siriwardena, Ajith K , Maier, Eva , Reiberger, Thomas , Cipriani, Federica , Oberkofler, Christian , Maglione, Manuel , Starlinger, Patrick , Fondevila, Constantino , Frampton, Adam E. , Lesurtel, Mickaël , Öllinger, Robert , Olthof, Pim , Schwarz, Christoph C. , Fuks, David , Gruenberger, Thomas , Stättner, Stefan

Mayo Clinic

British Journal of Surgery | July 20, 2023 | Volume: 110 | Issue: 10 | Pages: 1331-1347

10.1093/bjs/znad233 | PMID 37572099 Get It

Abstract Background Posthepatectomy liver failure (PHLF) contributes significantly to morbidity and mortality after liver surgery. Standardized assessment of preoperative liver function is crucial to identify patients at risk. These European consensus guidelines provide guidance for preoperative patient assessment. Methods A modified Delphi approach was used to achieve consensus. The expert panel consisted of hepatobiliary surgeons, radiologists, nuclear medicine specialists, and hepatologists. The guideline process was supervised by a methodologist and reviewed by a patient representative. A systematic literature search was performed in PubMed/MEDLINE, the Cochrane library, and the WHO International Clinical Trials Registry. Evidence assessment and statement development followed Scottish Intercollegiate Guidelines Network methodology. Results Based on 271 publications covering 4 key areas, 21 statements (at least 85 per cent agreement) were produced (median level of evidence 2− to 2+). Only a few systematic reviews (2++) and one RCT (1+) were identified. Preoperative liver function assessment should be considered before complex resections, and in patients with suspected or known underlying liver disease, or chemotherapy-associated or drug-induced liver injury. Clinical assessment and blood-based scores reflecting liver function or portal hypertension (for example albumin/bilirubin, platelet count) aid in identifying risk of PHLF. Volumetry of the future liver remnant represents the foundation for assessment, and can be combined with indocyanine green clearance or LiMAx® according to local expertise and availability. Functional MRI and liver scintigraphy are alternatives, combining FLR volume and function in one examination. Conclusion These guidelines reflect established methods to assess preoperative liver function and PHLF risk, and have uncovered evidence gaps of interest for future research.
Novel Benchmark Values for Open Major Anatomic Liver Resection in Non-cirrhotic Patients
Silva, Richard X. Sousa Da , Breuer, Eva , Shankar, Sadhana , Hołówko, Wacław , Coelho, João Santos, Jeddou, Heithem , Sugiura, Teiichi , Ghallab, Mohammed, Silva, Doris Da, Watanabe, Genki , Sakai, Nozomu , Addeo, Pietro , Tzedakis, Stylianos , Bartsch, F. , Balcer, Kaja, Lim, Chétana , Werey, Fabien, López, Víctor , Montero, Luciana Peralta, Clariá, Rodrigo Sanchez, Leiting, Jennifer L. , Vachharajani, Neeta , Hopping, Eve , Andel, Daan, Hagendoorn, Jeroen , Psica, Alicja , Ahn, Keun Soo , Montes, Leonardo A., Gunasekaran, Ganesh , Alcázar, C. , Lim, Jin Hong , Haroon, Muhammad, Lü, Qian , Castaldi, Antonio , Orimo, Tatsuya , Abadía, Teresa, Hasan, Josefina Dib, Kaufmann, Emmanuele F., Wilde, Roeland F. de , Boggi, Ugo , Hernandez‐Alejandro, Roberto, Serrablo, Alejandro , Taketomi, Akinobu , Dong, Jiahong , Hanif, Faisal, Park, Joon Seong , Schwartz, Myron , Ramisch, Diego , Oliveira, Michelle de , Oldhafer, K.J., Kang, Koo Jeong , Lodge, P., Rinkes, Inne H. M. Borel, Thomson, John‐Edwin , Goh, Su Kah , Chapman, William C. , Pekolj, Juan , Scatton, Olivier , Truant, Stéphanie , Lang, Hauke , Bachellier, Philippe , Otsuka, Masayuki, Popescu, Irinel , Cherqui, Daniel , Uesaka, Katsuhiko , Marques, Hugo P. , Grąt, Michał , Petrowsky, Henrik , Ebata, Tomoki , Prachalias, Andreas , Clavien, Pierre‐Alain , Kauffmann, Emanuele F. , Leiting, Jennifer, Chapman, William C , Shankar, Sadhana , Kawakatsu, Shoji , Botea, Florin , Torres, Orlando Jorge Martins , Hirano, Satoshi , Ravaioli, Matteo , Reese, Tim , Montes, Leonardo A., Castaldi, Antonio, Moeckli, Beat , Ruffolo, Luis I. , Hasan, Josefina Dib, Ratti, Francesca , Polak, Wojciech G. , Aldrighetti, Luca , McCormack, Lucas , Toso, Christian , Gugenheim, Jean , Ramia, José Manuel , Cescon, Matteo , Rinkes, Inne H.M. Borel , Noji, Takehiro , Cleary, Sean P. , Regimbeau, Jean‐Marc , Fuks, David , Hasegawa, Kiyoshi , Lesurtel, Mickaël , Adam, René , Boudjéma, Karim , Robles, R

Mayo Clinic

Annals of Surgery | July 19, 2023 | Volume: 278 | Issue: 5 | Pages: 748-755

10.1097/sla.0000000000006012 | PMID 37465950 Get It

Objective: This study aims at establishing benchmark values for best achievable outcomes following open major anatomic hepatectomy for liver tumors of all dignities. Background: Outcomes after open major hepatectomies vary widely lacking reference values for comparisons among centers, indications, types of resections, and minimally invasive procedures. Methods: A standard benchmark methodology was used covering consecutive patients, who underwent open major anatomic hepatectomy from 44 high-volume liver centers from 5 continents over a 5-year period (2016–2020). Benchmark cases were low-risk non-cirrhotic patients without significant comorbidities treated in high-volume centers (≥30 major liver resections/year). Benchmark values were set at the 75th percentile of median values of all centers. Minimum follow-up period was 1 year in each patient. Results: Of 8044 patients, 2908 (36%) qualified as benchmark (low-risk) cases. Benchmark cutoffs for all indications include R0 resection ≥78%; liver failure (grade B/C) ≤10%; bile leak (grade B/C) ≤18%; complications ≥grade 3 and CCI ® ≤46% and ≤9 at 3 months, respectively. Benchmark values differed significantly between malignant and benign conditions so that reference values must be adjusted accordingly. Extended right hepatectomy (H1, 4-8 or H4-8) disclosed a higher cutoff for liver failure, while extended left (H1-5,8 or H2-5,8) were associated with higher cutoffs for bile leaks, but had superior oncologic outcomes, when compared to formal left hepatectomy (H1-4 or H2-4). The minimal follow-up for a conclusive outcome evaluation following open anatomic major resection must be 3 months. Conclusion: These new benchmark cutoffs for open major hepatectomy provide a powerful tool to convincingly evaluate other approaches including parenchymal-sparing procedures, laparoscopic/robotic approaches, and alternative treatments, such as ablation therapy, irradiation, or novel chemotherapy regimens.
Exploring the Molecular Complexity of Medulloblastoma: Implications for Diagnosis and Treatment
Rechberger, Julian S. , Toll, Stephanie , Vanbilloen, Wouter J. F. , Daniels, David J. , Khatua, Soumen , Toll, Stephanie A , Daniels, David J , Rechberger, Julian S

Mayo Clinic

Diagnostics | July 19, 2023 | Volume: 13 | Issue: 14 | Pages: 2398

10.3390/diagnostics13142398 | PMID 37510143 Get It

Medulloblastoma is the most common malignant brain tumor in children. Over the last few decades, significant progress has been made in revealing the key molecular underpinnings of this disease, leading to the identification of distinct molecular subgroups with different clinical outcomes. In this review, we provide an update on the molecular landscape of medulloblastoma and treatment strategies. We discuss the four main molecular subgroups (WNT-activated, SHH-activated, and non-WNT/non-SHH groups 3 and 4), highlighting the key genetic alterations and signaling pathways associated with each entity. Furthermore, we explore the emerging role of epigenetic regulation in medulloblastoma and the mechanism of resistance to therapy. We also delve into the latest developments in targeted therapies and immunotherapies. Continuing collaborative efforts are needed to further unravel the complex molecular mechanisms and profile optimal treatment for this devastating disease.
Semiautomated approach focused on new genomic information results in time and effort- efficient reannotation of negative exome data
Ferrer, Alejandro Tiana, Olson, Rory J. , Meiners, Michael A., Schultz‐Rogers, Laura , Cousin, Margot A. , Williams, Megan, Pichurin, Pavel N. , Deyle, David R. , Gavrilova, Ralitza H. , Wierenga, Klass J., Lanpher, Brendan C. , Babovic‐Vuksanovic, Dusica , Vitek, Carolyn R. Rohrer , McAllister, Tammy M., Wick, Myra , Klee, Eric W. , Ferrer, Alejandro, Duffy, Patrick Emmet , Macke, Erica L. , Safgren, Stephanie L. , Morales‐Rosado, Joel A. , Oliver, Gavin R. , Rider, David, Williams, Megan, Morava, Éva , Dhamija, Radhika , Kaiwar, Charu , Schimmenti, Lisa A. , Lazaridis, Konstantinos N. , Vairo, Filippo Pinto e

Mayo Clinic

No container title available | July 14, 2023 | Volume: No volume available | Issue: No issue available | Pages: No page available

10.21203/rs.3.rs-3146571/v1 Get It

Abstract Introduction: Most rare disease patients (75 − 50%) undergoing genomic sequencing remain unsolved, often due to lack of information about variants identified. Data review over time can leverage novel information regarding disease-causing variants and genes, increasing this diagnostic yield. However, time and resource constraints have limited reanalysis of genetic data in clinical laboratories setting. We developed RENEW, (REannotation of NEgative WES/WGS) an automated reannotation procedure that uses relevant new information in on-line genetic databases to enable rapid review of genetic findings. Methods We tested RENEW in an unselected cohort of 1,066 undiagnosed cases from the Mayo Clinic Center for Individualized Medicine using new information in ClinVar, HGMD and OMIM between the date of previous analysis/testing and April of 2022. Results 5,741 variants prioritized by RENEW were rapidly reviewed by variant interpretation specialists. Mean analysis time was approximately 20 seconds per variant (32 hours total time). Reviewed cases were classified as: 879 (93.0%) undiagnosed, 63 (6.6%) putatively diagnosed, and 4 (0.4%) definitively diagnosed. Discussion New strategies are needed to enable efficient review of genomic findings in unsolved cases. We report on a fast and practical approach to address this need and improve overall diagnostic success in patient testing through a recurrent reannotation process.