Implications of the choice of method to identify major depressive disorder in large research cohorts.

Background: Clinical heterogeneity and variations in methods to identify major depressive disorder (MDD) across studies compromise replicability of research findings. This study evaluated potential implications of different MDD case definitions in a large biobank cohort.

Methods: Among Mayo Clinic Biobank participants, MDD was identified using two methods: self-report MDD in a participant questionnaire (PQ-MDD) and MDD ICD codes in the electronic health record (EHR-MDD).

Multilevel Intervention and Human Papillomavirus Vaccination Disparities: A Secondary Analysis of a Cluster Randomized Trial.

Importance: Uptake of human papillomavirus (HPV) vaccination varies by characteristics, exposing some children to higher HPV cancer risks than others.

Objective: To examine whether the effectiveness of a multilevel intervention on HPV vaccination differed by race and ethnicity, rurality, and Area Deprivation Index (ADI) in children ages 11 to 12 years.

Design, Setting, And Participants: A stepped-wedge cluster randomized trial was conducted from April 2018 to August 2022 among children at 6 Mayo Clinic primary care practices in Minnesota to improve HPV vaccination.

A cross-sectional analysis of factors associated with cervical cancer screening in a large midwest primary care setting.

Background: Lower cervical cancer screening (CCS) rates have been reported among non-White populations, older women, rural populations, and populations with low socioeconomic status (SES). We evaluate associations between CCS status and individual, healthcare, and SES variables in a large primary care setting in southeast Minnesota.

Methods: We identified participants assigned female sex at birth, aged 21-65 years, without hysterectomy, and eligible for CCS via cross-sectional analysis of the electronic health record.

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.

Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 patients and 3,153 controls compiled from 26 institutions/brain banks in North America, Europe and Australia, and meta-analysis with the Dementia-seq cohort. We confirm UNC13A as the strongest overall FTLD-TDP risk factor and identify TNIP1 as a novel FTLD-TDP risk factor.

Antidepressant Non-refill as a Proxy Measure for Medication Acceptability in Electronic Health Records.

Background: Pharmacogenomic studies on antidepressant treatment outcomes could be conducted using previously collected data from electronic health record (EHR)-linked biobanks. However, absence of EHR based outcome measures is an unmet need in designing such studies We aimed to define EHR-derived antidepressant outcome measures and explore their utility in showing associations between treatment outcomes and Cytochrome P450 (CYP) metabolizer phenotypes in a proof-of-concept study.

Methods: Using data from the EHR-linked cohort, Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment (RIGHT 10K) Study, we collected prescription data and patient health questionnaire 9 (PHQ-9) scores to compute 3 proxy measures for antidepressant response, efficacy, and acceptability: change in PHQ-9 scores, longest treatment interval with a single antidepressant, and antidepressant non-refill.

Follow-up Colorectal Cancer Screening After Negative-Result and Positive-Result Multitarget Stool DNA Tests: A Population-Based Study in Southeast Minnesota.

Objective: To provide contemporary data on subsequent screening after negative-result multitarget stool DNA (mt-sDNA) tests and follow-up colonoscopy after positive-result mt-sDNA tests.

Patients And Methods: Negative-result mt-sDNA tests (for patients aged 50-72 years) and positive-result mt-sDNA tests (for patients aged 50-75 years) were identified among average risk patients from a 9-county region in Southeast Minnesota from January 1, 2016 to December 31, 2022. Competing risks models of time to subsequent colorectal cancer (CRC) screening were modeled separately for the negative mt-sDNA and positive mt-sDNA cohorts.

Evaluation of parent reminder-recall letters to promote human papillomavirus vaccination.

Objective: Human papillomavirus (HPV) vaccine uptake remains suboptimal. Our stepped-wedge cluster randomized trial found that reminder-recall letters sent to parents of age-eligible children significantly increased vaccine uptake compared to usual care. Subsequently, we conducted a process evaluation to assess the mechanisms of the letter's effectiveness.

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.

Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 cases and 3,153 controls, and meta-analysis with the Dementia-seq cohort, compiled from 26 institutions/brain banks in the United States, Europe and Australia. We confirm as the strongest overall FTLD-TDP risk factor and identify as a novel FTLD-TDP risk factor.

Primary human papillomavirus testing by clinician- versus self-collection: Awareness and acceptance among cervical cancer screening-eligible women.

Objectives: Primary human papillomavirus (HPV) testing by clinician-collection is endorsed by U.S. guideline organizations for cervical cancer screening, but uptake remains low and insights into patients' understanding are limited.

Primary Human Papillomavirus Test Uptake and Cervical Cancer Screening Trends in the Midwest, United States.

Introduction/objectives: Despite U.S. Preventive Services Task Force and American Cancer Society endorsement of primary HPV screening, limited published data shows low uptake.

Age-Dependent Sex Differences in the Prevalence of Selective Serotonin Reuptake Inhibitor Treatment: A Retrospective Cohort Analysis.

Antidepressants are among the most prescribed medications in the United States. The aim of this study was to explore the prevalence of antidepressant prescriptions and investigate sex differences and age-sex interactions in adults enrolled in the Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment (RIGHT) study. We conducted a retrospective analysis of the RIGHT study.

Myocardial Recovery in Recent Onset Dilated Cardiomyopathy: Role of and Cardiac Fibrosis.

Background: Dilated cardiomyopathy (DCM) is a major cause of heart failure and carries a high mortality rate. Myocardial recovery in DCM-related heart failure patients is highly variable, with some patients having little or no response to standard drug therapy. A genome-wide association study may agnostically identify biomarkers and provide novel insight into the biology of myocardial recovery in DCM.

Myocardial Fibrosis and Cardiomyopathy Risk: A Genetic Link in the MESA.

Background: Common genetic variants are associated with risk for hypertrophic cardiomyopathy and dilated cardiomyopathy and with left ventricular (LV) traits. Whether these variants are associated with myocardial fibrosis, an important pathophysiological mediator of cardiomyopathy, is unknown.

Methods: Multi-Ethnic Study of Atherosclerosis participants with T1-mapping cardiac magnetic resonance imaging in-whom extracellular volume was assessed, and genotyping information was available were included (N=1255).

Employment Characteristics and Risk of Hospitalization Among Older Adults Participating in the Mayo Clinic Biobank.

Objective: To determine the relationship between characteristics of employment and future hospitalization in older adults.

Patients And Methods: We conducted a survey of adults aged 65 years or older participating in the Mayo Clinic Biobank. Using a frequency-matched, case-control design, we compared patients who were hospitalized within 5 years of biobank enrollment (cases) with those who were not hospitalized (controls).

Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer.

Purpose: To identify molecular predictors of grade 3/4 neutropenic or leukopenic events (NLE) after chemotherapy using a genome-wide association study (GWAS).

Experimental Design: A GWAS was performed on patients in the phase III chemotherapy study SUCCESS-A (n = 3,322). Genotyping was done using the Illumina HumanOmniExpress-12v1 array.

Awareness and Support of Clinician- and Patient-Collected Human Papillomavirus Testing for Cervical Cancer Screening Among Primary Care Clinicians.

Cervical cancer screening has shifted toward human papillomavirus (HPV)-based testing, but uptake of primary HPV screening in the United States is unknown and previous studies highlight delays in clinician adoption of guideline updates. We conducted a cross-sectional electronic survey of primary care clinicians ( = 252; response rate = 30.9%) assessing awareness and support of primary HPV screening.

Health Care Provider Characteristics Associated With Colorectal Cancer Screening Preferences and Use.

Objective: To assess health care provider (HCP) preferences related to colorectal cancer (CRC) screening overall, and by HCP and patient characteristics.

Participants And Methods: We developed a survey based on the Theoretical Domains Framework to assess factors associated with CRC screening preferences in clinical practice. The survey was administered online November 6 through December 6, 2019, to a validated panel of HCPs drawn from US national databases and professional organizations.

Socioeconomic disadvantage and human papillomavirus (HPV) vaccination uptake.

Importance: Despite availability of safe and effective human papillomavirus (HPV) vaccines, vaccination uptake remains low in the U.S. Research examining the impact of neighborhood socioeconomic status on HPV vaccination may help target interventions.

The importance of social activity to risk of major depression in older adults.

Background: Several social determinants of health (SDoH) have been associated with the onset of major depressive disorder (MDD). However, prior studies largely focused on individual SDoH and thus less is known about the relative importance (RI) of SDoH variables, especially in older adults. Given that risk factors for MDD may differ across the lifespan, we aimed to identify the SDoH that was most strongly related to newly diagnosed MDD in a cohort of older adults.

Disparities Among Limited English Proficient Patients in Colon Cancer Screening with Multi-target DNA Stool Test.

Racial and language minority groups in the U.S. are at a higher risk for morbidity and mortality from colorectal cancer (CRC), partially due to lower screening rates.

No Association Between Pharmacogenomics Variants and Hospital and Emergency Department Utilization: A Mayo Clinic Biobank Retrospective Study.

Background: The use of pharmacogenomics data is increasing in clinical practice. However, it is unknown if pharmacogenomics data can be used more broadly to predict outcomes like hospitalization or emergency department (ED) visit. We aim to determine the association between selected pharmacogenomics phenotypes and hospital utilization outcomes (hospitalization and ED visits).

Long-term lithium therapy and risk of chronic kidney disease in bipolar disorder: A historical cohort study.

Aims: Long-term lithium therapy (LTLT) has been associated with kidney insufficiency in bipolar disorder (BD). We aimed to investigate the risk factors of chronic kidney disease (CKD) development and progression among BD patients receiving LTLT.

Methods: We included adult patients with BD on LTLT (≥1 year) who were enrolled in the Mayo Clinic Bipolar Biobank, Rochester, Minnesota.