R. John Presutti

ORCID: 0000-0001-6990-1323
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About
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Research Areas
  • Cancer Genomics and Diagnostics
  • Genomics and Rare Diseases
  • BRCA gene mutations in cancer
  • Genomic variations and chromosomal abnormalities
  • Body Contouring and Surgery
  • Obesity and Health Practices
  • Bariatric Surgery and Outcomes
  • Primary Care and Health Outcomes
  • Genetic factors in colorectal cancer
  • Pancreatic and Hepatic Oncology Research
  • Streptococcal Infections and Treatments
  • Innovations in Medical Education
  • Rabies epidemiology and control
  • Colorectal Cancer Screening and Detection
  • Breast Implant and Reconstruction
  • Bone health and treatments
  • Ethics in Clinical Research
  • Bone health and osteoporosis research
  • Interprofessional Education and Collaboration
  • COVID-19 and healthcare impacts
  • Diet and metabolism studies
  • Telemedicine and Telehealth Implementation
  • Parathyroid Disorders and Treatments
  • Epigenetics and DNA Methylation
  • Health Policy Implementation Science

Mayo Clinic in Florida
1997-2025

WinnMed
2005-2025

Jacksonville College
2004-2024

Mayo Clinic
2006-2024

Nemours Children's Clinic
2023

University of Florida
2020

New York Medical College
1973

PURPOSE Guidelines recommend germline genetic testing (GT) for patients with pancreatic ductal adenocarcinoma (PDAC). This study aims to evaluate the utilization and outcomes of multigene panel GT in PDAC. METHODS retrospective, multisite included PDAC diagnosed between May 2018 August 2020 at Mayo Clinic Arizona, Florida, Minnesota. Discussion, uptake, were compared before (May 1, 2018-May 2019) after (August 2019-August 2020) guideline update, accounting a transition period. RESULTS The...

10.1200/op.23.00447 article EN JCO Oncology Practice 2024-08-01

No AccessJournal of Urology1 Mar 1973Subcellular Muscle Studies in the Prune Belly Syndrome D.T. Mininberg, F. Montoya, K. Okada, Galioto, and R. Presutti MininbergD.T. Mininberg More articles by this author , MontoyaF. Montoya OkadaK. Okada GaliotoF. Galioto PresuttiR. View All Author Informationhttps://doi.org/10.1016/S0022-5347(17)60470-1AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail © 1973 The American Urological...

10.1016/s0022-5347(17)60470-1 article EN The Journal of Urology 1973-03-01

Objective: Multicancer Detection (MCD) tests, such as the GRAIL Galleri, offer a novel approach to cancer screening by detecting cancer-specific methylation patterns in cell-free DNA through single blood sample. This study evaluated an 18-month implementation of MCD testing tertiary ambulatory internal medicine clinic. Patients and Methods: Between June 2022 November 2023, 2244 asymptomatic (without symptoms attributed cancer) patients underwent testing. The focused on operational workflows,...

10.1177/21501319251329290 article EN cc-by-nc Journal of Primary Care & Community Health 2025-01-01

Abstract Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD an estimated 30 million Americans. A significant portion of has underlying genetic cause; however, this may go undiagnosed. To better serve these patients, Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) was created under auspices Center Individualized Medicine (CIM) aiming to integrate genomics into subspecialty practice including...

10.1186/s12967-023-04183-7 article EN cc-by Journal of Translational Medicine 2023-06-23

10.1016/s0025-6196(11)62599-8 article EN Mayo Clinic Proceedings 2004-09-01

The autosomal dominant cancer predisposition disorders hereditary breast and ovarian (HBOC) Lynch syndrome (LS) are genetic conditions for which early identification intervention have a positive effect on the individual public health. goals of this study were to determine whether germline screening using exome sequencing could be used efficiently identify carriers HBOC LS.

10.1200/po.24.00106 article EN JCO Precision Oncology 2024-07-01

Highlights Multicancer early detection panels are novel assays that allow screening for dozens of cancers using a single blood sample. Data on the optimal workflow ordering, interpreting, and managing subsequent evaluations multi-cancer results lacking. Primary care providers expressed concerns about cost management positive multicancer test. ABSTRACT Objective have recently become available to patients with healthcare provider prescriptions funds. These tests [...]

10.31744/einstein_journal/2024ao0771 article EN cc-by Einstein (São Paulo) 2024-01-01

The nurse practitioner (NP) and physician assistant (PA) professions are rapidly growing. Historically, these have filled a health care delivery gap caused by lack of access shortages. Many medical practices more accustomed to adding new physicians as compared with NPs or PAs. This article describes one institution's approach develop implement successful NP/PA onboarding program. Several key components discussed, including (1) established roles responsibilities, (2) clear timeline the period...

10.1097/jxx.0000000000000611 article EN Journal of the American Association of Nurse Practitioners 2021-05-18

Abstract Primary care physicians (PCPs) are commonly approached with concerns involving patient genetics. This is a challenge because most PCPs lack expertise in genetic testing compared to their counselor counterparts. Currently, the recommended best practice refer patients for based on cancer‐related family history questionnaires counseling referral discuss results and any implications. However, extent which using these this purpose remains poorly understood. In cross‐sectional study, were...

10.1002/jgc4.1787 article EN Journal of Genetic Counseling 2023-09-08

Family health history can be a valuable indicator of risk to develop certain cancers. Unfortunately, patient self-reported family often contains inaccuracies, which might change recommendations for cancer screening. We endeavored understand the difference between patient's and their electronic medical record (EMR) history. One aim this study was determine if information contained in EMR differs from patient-reported collected using focused questionnaire.We created Hereditary Cancer...

10.1177/21501319211069756 article EN cc-by-nc Journal of Primary Care & Community Health 2022-01-01

Capturing family history might be a valuable tool for identification of individuals at increased risk pancreatic cancer, which would allow enrollment into surveillance programs. In addition, weight loss and concurrent new-onset diabetes may utilized as an early marker cancer. This study evaluates the yield combining Enriching New-Onset Diabetes Pancreatic Cancer (ENDPAC) model to identify who could benefit from surveillance. A novel questionnaire digital input was created that combined...

10.1016/j.pmedr.2023.102110 article EN cc-by Preventive Medicine Reports 2023-01-16

688 Background: Guidelines recommend patients with pancreatic ductal adenocarcinoma (PDAC) undergo genetic testing for germline pathogenic variants (PV). The aim of this study was to evaluate compliance recently updated guidelines (May 2019) and assess subsequent uptake outcomes in PDAC patients. In addition, social clinical factors associated were assessed. Methods: A retrospective chart review diagnosed between May 2018 August 2020 performed. Discussion reviewed compared a 12-month period...

10.1200/jco.2023.41.4_suppl.688 article EN Journal of Clinical Oncology 2023-01-24
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