Differentiation of Hispanic biogeographic ancestry with 80 ancestry informative markers.

Ancestry informative single nucleotide polymorphisms (SNPs) can identify biogeographic ancestry (BGA); however, population substructure and relatively recent admixture can make differentiation difficult in heterogeneous Hispanic populations. Utilizing unrelated individuals from the Genomic Origins and Admixture in Latinos dataset (GOAL, n = 160), we designed an 80 SNP panel (Setser80) that accurately depicts BGA through STRUCTURE and PCA. We compared our Setser80 to the Seldin and Kidd panels via resampling simulations, which models data based on allele frequencies.

Diversity in the Era of Precision Medicine - From Bench to Bedside Implementation.

Recent evidence shows how patients' unique genetic makeup can affect disease outcomes and the increasing availability of targeted treatments promises a future in health care, whereby treatments will be tailored to individual needs. This article reports on the topics discussed at the 13th Annual Texas Conference on Health Disparities, organized by the Texas Center for Health Disparities at the University of North Texas Health Science Center; the meeting focused on the theme, "Diversity in the Era of Precision Medicine" and was held during June 2018 in Fort Worth, Texas. The primary focus of this conference, which brought together clinical and basic scientists, was on the inclusion of diversity in precision medicine to bridge the gap in health disparities.

Affordable Care Act and cancer stage at diagnosis in an underserved population.

The Patient Protection and Affordable Care Act (ACA) has increased insurance coverage among underserved individuals, but the effect of ACA on cancer diagnosis is currently debated, particularly in Medicaid non-expansion states. Therefore, we aimed to assess the effect of ACA implementation on stage at diagnosis among underserved cancer patients in Texas, a Medicaid non-expansion state. We used data from the institutional registry of the JPS Center for Cancer Care, which serves an urban population of underserved cancer patients.

Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework.

Purpose: This paper describes the implementation outcomes associated with integrating a family health history-based risk assessment and clinical decision support platform within primary care clinics at four diverse healthcare systems.

Methods: A type III hybrid implementation-effectiveness trial. Uptake and implementation processes were evaluated using the Reach, Effectiveness, Adoption, Implementation, and Maintenance (RE-AIM) framework.

A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.

Background: Menetrier's disease (MD) is a rare disease with unknown aetiology, characterized by hypertrophic folds within the fundus and body of the stomach.

Aims: We investigated mutations of the candidate genes SMAD4, BMPR1A, TGF-α, and PDX1 within a family with MD.

Methods: A large 4-generation family with MD was identified.

Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study.

Background: Risk assessment with a thorough family health history is recommended by numerous organizations and is now a required component of the annual physical for Medicare beneficiaries under the Affordable Care Act. However, there are several barriers to incorporating robust risk assessments into routine care. MeTree, a web-based patient-facing health risk assessment tool, was developed with the aim of overcoming these barriers.

Role of genomics in eliminating health disparities.

The Texas Center for Health Disparities, a National Institute on Minority Health and Health Disparities Center of Excellence, presents an annual conference to discuss prevention, awareness education, and ongoing research about health disparities both in Texas and among the national population. The 2014 Annual Texas Conference on Health Disparities brought together experts in research, patient care, and community outreach on the "Role of Genomics in Eliminating Health Disparities." Rapid advances in genomics and pharmacogenomics are leading the field of medicine to use genetics and genetic risk to build personalized or individualized medicine strategies.

Long-Term Recall of Elements of Informed Consent: A Pilot Study Comparing Traditional and Computer-Based Consenting.

Background:: The purpose of this study was to evaluate long-term recall of elements of informed consent.

Methods:: Men enrolling in a biobank for a study of prostate cancer were randomized to traditional or computer-based consenting. Two-page questionnaires were mailed to participants six months after the consent process.

Does KRAS testing in metastatic colorectal cancer impact overall survival? A comparative effectiveness study in a population-based sample.

Purpose: Epidermal growth factor receptor (EGFR) inhibitors are approved for treating metastatic colorectal cancer (CRC); KRAS mutation testing is recommended prior to treatment. We conducted a non-inferiority analysis to examine whether KRAS testing has impacted survival in CRC patients.

Patients And Methods: We included 1186 metastatic CRC cases from seven health plans.

Development of reusable logic for determination of statin exposure-time from electronic health records.

Objective: We aim to quantify HMG-CoA reductase inhibitor (statin) prescriber-intended exposure-time using a generalizable algorithm that interrogates data stored in the electronic health record (EHR).

Materials And Methods: This study was conducted using the Marshfield Clinic (MC) Personalized Medicine Research Project (PMRP) a central Wisconsin-based population and biobank with, on average, 30 years of electronic health data available in the independently-developed MC Cattails MD EHR. Individuals with evidence of statin exposure were identified from the electronic records, and manual chart abstraction of all mentions of prescribed statins was completed.

Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer.

Purpose: The aim of this study was to examine Lynch syndrome screening of patients with metastatic colorectal cancer in integrated health-care-delivery organizations.

Methods: We determined the availability of Lynch syndrome screening criteria and actual Lynch syndrome screening in the medical records of 1,188 patients diagnosed with metastatic colorectal cancer between 2004 and 2009 at seven institutions in the Cancer Research Network.

Results: We found infrequent use of Lynch syndrome screening (41/1,188).

Tamoxifen-induced venothromboembolic events: exploring validation of putative genetic association.

Objective: A pilot study to examine accrual rates, efficiency of data capture approaches, study design and genotyping capacity for a future genetic validation study was undertaken.

Design: The process pilot evaluated feasibility of applying a matched case-control design to validate association of two candidate estrogen receptor (ER) single nucleotide polymorphisms (SNPs) with incidence of venothromboembolic events (VTE) in breast cancer patients treated with tamoxifen where criteria included frequency matching by age, number of years diagnosed with breast cancer within 4-year intervals, and geographic residency.

Setting: The study was conducted at Marshfield Clinic, in central Wisconsin.

Learning to predict post-hospitalization VTE risk from EHR data.

We consider the task of predicting which patients are most at risk for post-hospitalization venothromboembolism (VTE) using information automatically elicited from an EHR. Given a set of cases and controls, we use machine-learning methods to induce models for making these predictions. Our empirical evaluation of this approach offers a number of interesting and important conclusions.

KRAS testing and epidermal growth factor receptor inhibitor treatment for colorectal cancer in community settings.

Background: In metastatic colorectal cancer (mCRC), mutations in the KRAS gene predict poor response to EGF receptor (EGFR) inhibitors. Clinical treatment guidelines now recommend KRAS testing if EGFR inhibitors are considered. Our study investigates the clinical uptake and utilization of KRAS testing.

Analysis of urological procedures in men who died from prostate cancer using a population-based approach.

Unlabelled: What's known on the subject? and What does the study add? Very few studies have examined end-of-life urological studies in men with prostate cancer. These studies reported fewer procedures in men who received primary therapy for prostate cancer. However, these studies were typically single institution or had a short follow-up period.

Historical prostate cancer screening and treatment outcomes from a single institution.

Objective: To quantify outcomes of individuals diagnosed and treated for prostate cancer in a single institution.

Design: Retrospective electronic chart abstraction.

Setting: Marshfield Clinic, the largest private multispecialty group practice in Wisconsin, and one of the largest in the United States, provides health care services annually to approximately 385,000 unique patients through 1.

Dietary intake in the Personalized Medicine Research Project: a resource for studies of gene-diet interaction.

Background: To describe the dietary intake of participants in the Personalized Medicine Research Project (PMRP), and to quantify differences in nutrient intake by smoking status and APOE4-a genetic marker that has been shown to modify the association between risk factors and outcomes.

Methods: The PMRP is a population-based DNA, plasma and serum biobank of more than 20,000 adults aged 18 years and older in central Wisconsin. A questionnaire at enrollment captures demographic information as well as self-reported smoking and alcohol intake.

Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

Background: There is a lack of knowledge regarding the frequency of disease associated polymorphisms in populations and population attributable risk for many populations remains unknown. Factors that could affect the association of the allele with disease, either positively or negatively, such as race, ethnicity, and gender, may not be possible to determine without population based allele frequencies.Here we used a panel of 51 polymorphisms previously associated with at least one disease and determined the allele frequencies within the entire Personalized Medicine Research Project population based cohort.

Development of a fingerprinting panel using medically relevant polymorphisms.

Background: For population based biorepositories to be of use, rigorous quality control and assurance must be maintained. We have designed and validated a panel of polymorphisms for individual sample identification consisting of 36 common polymorphisms that have been implicated in a wide range of diseases and an additional sex marker. This panel uniquely identifies our biorepository of approximately 20,000 samples and would continue to uniquely identify samples in biorepositories of over 100 million samples.

Functional characterization of the HOXB13 promoter region.

Homeobox (HOX) genes are crucial regulators of cell growth and differentiation. These genes initiate and control gene expression cascades that drive development. More recently, the absent or aberrant expression of HOX genes has been implicated in cancer development.

Gene therapy for cancer treatment: past, present and future.

The broad field of gene therapy promises a number of innovative treatments that are likely to become important in preventing deaths from cancer. In this review, we discuss the history, highlights and future of three different gene therapy treatment approaches: immunotherapy, oncolytic virotherapy and gene transfer. Immunotherapy uses genetically modified cells and viral particles to stimulate the immune system to destroy cancer cells.