View clinical trials related to Genetic Predisposition.
Filter by:Given the expansion of indications for genetic testing and our understanding of conditions for which the results change medical management, it is imperative to consider novel ways to deliver care beyond the traditional genetic counseling visit, which are both amenable to large-scale implementation and sustainable. The investigators propose an entirely new approach for the implementation of genomic medicine, supported by the leadership of Penn Medicine, investigating the use of non-geneticist clinician and patient nudges in the delivery of genomic medicine through a pragmatic randomized clinical trial, addressing NHGRI priorities. Our application is highly conceptually and technically innovative, building upon expertise and infrastructure already in place. Innovative qualities of our proposal include: 1) Cutting edge EHR infrastructure already built to support genomic medicine (e.g., partnering with multiple commercial genetic testing laboratories for direct test ordering and results reporting in the EHR); 2) Automated EHR-based direct ordering or referring by specialist clinicians (i.e., use of replicable modules that enable specialist clinicians to order genetic testing through Epic Smartsets, including all needed components, such as populated gene lists, smartphrases, genetic testing, informational websites and acknowledgement e-forms for patient signature); 3) EHR algorithms for accurate patient identification (i.e., electronic phenotype algorithms to identify eligible patients, none of which currently have phenotype algorithms present in PheKB; 4) Behavioral economics-informed implementation science methods: This trial will be the first to evaluate implementation strategies informed by behavioral economics, directed at clinicians and/or patients, for increasing the use of genetic testing; further it will be the first study in this area to test two forms of defaults as a potential local adaptation to facilitate implementation (ordering vs. referring); and 5) Dissemination: In addition to standard dissemination modalities,PheKB95, GitHub and Epic Community Library, the investigators propose to disseminate via AnVIL (NHGRI's Genomic Data Science Analysis, Visualization, and Informatics Lab-Space). Our results will represent an entirely new paradigm for the provision of genomic medicine for patients in whom the results of genetic testing change medical management.
Obesity is a complex chronic disease, in which both genetic and environmental factors are involved, that shows a great heterogeneity in the response to different weight loss programs. Identifying patients as responder or no responder to the different obesity treatment options is a concept of great interest, both due to the high prevalence of obesity and its high consumption of resources. More than 500,000 surgeries are performed every year around the world, of which approximately 30% will present unsatisfactory results. The general objective is to carry out a multi-omics approach for the discovery and validation of markers of weight response to bariatric surgery (BS) in a large sample of people with severe obesity (n=6,966 men and women who underwent sleeve gastrectomy or gastric bypass, including an additional external validation set). Thus, the investigators want to know the integrated contribution of several genomic markers (Genome Wide Association study, GWAs), new clinical and analytical variables (human exposome concept) and gender perspective to the prediction of response to the intervention at 12 month and its long-term longitudinal maintenance (3 years). The investigators intend, therefore, to provide new evidence to advance towards precision medicine. The investigators will focus our attention also on identifying those patients who, after being classified at the weight loss nadir as responders experienced weight regain.
The goal of this research study is to evaluate the pathophysiologic mechanisms by which genetic variation impacts response to an FDA-approved medication commonly used to treat type 2 diabetes called oral semaglutide (Rybelsus) and to characterize the physiological response to a mixed meal tolerance test (MMTT) before and after a 14-day treatment with oral semaglutide. The investigators will do this by measuring factors in the blood, such as sugars, fats, metabolites, and proteins, after eating a standardized breakfast meal at the first visit and after taking 14 doses of oral semaglutide over two weeks before the second study visit. The food (mixed meal breakfast) we will be studying is specially prepared to contain a set amount of protein, carbohydrates, and fat. The investigators hypothesize that understanding how the acute biochemical response to oral semaglutide differs by genetic variation will generate insight into drug mechanisms and type 2 diabetes pathophysiology.
Nutritional status is a measurable and modifiable factor that is often not considered during treatment and its clinical impact undervalued due in part to the heavy demands on clinicians in low and middle income countries to deliver therapy to large numbers of patients. The proposed study will create a biobank of clinical data and biological specimens which will foster future studies on cancer progression and prognosis as well as toxicities during treatment which may impact survivorship and late-effects. Eligible patients must be between 3 years and 18 years of age at time of assent/consent, have newly diagnosed B- or T-cell acute lymphoblastic leukemia or mixed phenotype acute leukemia confirmed by pathology report, and must be receiving treatment at one of the participating centers. Patients receiving hematopoietic cell transplant will be excluded. Institutions were selected to ensure representation of several global health indicators related to nutritional status and wealth classification according to the World Bank. Data related to demographic variables (socioeconomic status, food security), lifestyle habits (diet, physical activity), nutritional anthropometrics (height, weight and arm anthropometry), and nutritional biological indices (stool and blood) will be collected at designated timepoints throughout treatment and one year after the end of treatment.
Women with breast and/or ovarian cancer or with a family history carried these pathologies can makeo genetic counseling in order to investigate whether they are carriers of the BRCA1/2 genetic mutation. This mutation exposes them to develop breast cancer from 50 to 80% and from 27 to 65% of developing ovarian cancer. BRCA1/2 mutations are inherited as an autosomal dominant manner and therefore there is a 50% probability of transmitting the mutation to the progeny. For this reason, women who have BRCA 1/2 mutation may be less likely to want children than those who test negative. The decision to have children could worry both for the probability to transfer the genetic mutation or because the parenthood could be compromised by the illness and/or by premature death. In previous studies, the psychological condition of patients with BRCA 1/2 mutations, with or without children, was only partially investigated. For this reason the main goal of the study is to deeply investigate the specific psychological condition, with particular attention to the guilt feelings on the possibility to transfer the genetic mutation to the progeny. In this wai it could be useful to development a therapeutic strategies aimed at the best adaptation of the patients to the new health condition.
Testing children, adolescents, and young adults (CAYA) for a genetic risk for cancer can help with early prevention and detection of cancers through regular follow-ups and medical care. After receiving genetic test results, CAYA may not accurately understand what their results mean, and parents are often unsure about talking with their CAYA about their genetic risk for cancer. By understanding how parents communicate with their CAYA, the investigators can improve future genetic education to reduce cancer risk. Primary Objectives: - Identify qualities of parent-CAYA (child, adolescent, and young adults) communication about CAYAs' genomic cancer risk, and their association with CAYAs' psychosocial and prevention outcomes. - Examine the association between sociodemographic, cancer-related, and psychosocial factors and parent-CAYA communication regarding CAYAs' genomic risk for cancer. - Identify barriers and facilitators of parent-CAYA communication regarding CAYAs' genomic risk for cancer.
This research is being done to develop the electronic platform Nest for young adults (ages 18-39) who have had prior cancer genetic testing. The platform will give patients and their clinicians access to continuously updated information about both pathogenic variants and variants of uncertain significance (VUS). The name of the intervention used in this research study is: Nest portal (electronic platform for patients and clinicians)
Develop and evaluate acceptability, feasibility, and preliminary efficacy of digital care plan and accompanying text message reminders for children and adolescents with a known Cancer Predisposition Syndromes (CPS).
Recent breakthroughs in medical genetics have discovered that a portion of kidney failure affecting the Black community is mediated by coding variants in a gene called apolipoprotein L1 (APOL1) - and that genetic variants, not race - account for increased risk. For APOL1 genetic testing to be applied in a manner that improves patient care and outcomes, more information is needed regarding associations of genotype with clinical parameters related to kidney health. Further, understanding patient perceptions about knowledge of the results of APOL1 genetic testing, and how that impacts patient engagement with management of hypertension and other renal risk factors, is urgently needed. - In a Phase 1 pilot study, we offered APOL1 genetic testing to Black patients seen in our Hypertension and Nephrology clinics at Saint Louis University, an academic medical center that serves the local urban community, and surveyed patients on attitudes and concerns about APOL1 genetic testing. 144 participants were enrolled in Phase 1. - In the Phase 2 study, we will advance this important work in our community by offering participation to a broader patient base, including patients seen in Internal and Family Medicine clinics, SLU Hospital, as well as to first-degree relatives and spouses of SLUCare participants. This expansion seeks to advance understanding of environment-gene interactions, improve risk prediction, and target management of potentially modifiable risk factors.
The purpose of this research study is to learn more about the inherited risk for developing lung cancer.