Genetic testing

Displaying 45 studies

  • Clinical and Basic Investigations into Congenital Disorders of Glycosylation Rochester, MN

    The purpose of this study is to establish the prevalence and severity of specific morbid indicators of disease severity such as specific organ system involvement, degree of cognitive disability, and case-fatality associated with various congenital disorders of glycosylation (CDG), and establish a dynamic platform to effectively disperse clinically relevant findings to families, non-expert clinicians and researchers, as well as provide a verified method to link these individuals to experts in CDG.


  • A Study to Establish a Patient Clinical and Genetic Information Database to Better Characterize Symptoms and Causes of Angelman Syndrome Rochester, MN

    The purpose of this study is to establish a patient and clinical information database, and a genetic material biobank to better characterize the symptoms and unknown genetic causes of Angelman syndrome

  • INHERIT Study to Evaluate Proactive Genetic Testing in Cancer Patients Jacksonville, FL

    The goal of this study is to evaluate the integration of cancer genetic testing into a community cancer clinical practice aimed toward patients of various ethnic populations in north Florida including, but not limited to, African Americans, Hispanic/Latino, Native American/Alaskan and Asian, by self-report.

  • Sequencing for Families with Hereditary Disorders Rochester, MN

    The purpose of this project will examine the feasibility of offering whole genome sequencing (WGS), and developing a Rapid WGS protocol, for a fetus or neonate with multiple anomalies.

  • A Study to Identify Genetic Risk Determinants in Families with High Penetrance Type 1 Diabetes Rochester, MN

    The purpose of this study is to identify novel genetic variants that predispose to Type 1 Diabetes.

  • A Study of Symptoms, Lifestyle Habits, Physician Counseling, and Direct-to Consumer Genetic Testing in Patients with Hereditary Hemochromatosis Jacksonville, FL

    The purpose of this study is to provide descriptive information on patients with hereditary hemochromatosis, including their predominant symptoms, time to diagnosis, lifestyle habits, physician counseling, and use of direct-to-consumer (DTC) genetic testing.

  • ADVANCE Scottsdale/Phoenix, AZ; Rochester, MN; Jacksonville, FL

    The purpose of this research study is to understand the views and experiences of African American women with a diagnosis or who support a family member with breast or ovarian cancer. We also want to know participant thoughts on genetic testing for cancer risk.

    This is a qualitative interview study. Study participation involves talking on the phone or videoconference (e.g., Zoom) for about 1 hour with a researcher.


  • Genetic Risk and Cancer Estimation Study Rochester, MN

    The purpose of this research is to develop a collection of known mutation carriers to analyze cancer risk and long-term clinical outcomes.

  • Expanded Hereditary Cancer Genetic Testing Jacksonville, FL

    The purpose of this study is to measure the clinical impact of re-testing (quantifying the percentage of those who subsequently test positive, which genes are identified, and quantifying the percentage of those who have not received recommended clinical management as well as those for whom new clinical management options exist).

  • A Network Genomic Risk Assessment of the Electronic Medical Records and Genomics Rochester, MN

    The electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment Study is a multisite study funded by the National Human Genome Research Institute (NHGRI) to investigate the clinical utility of polygenic risk scores for common conditions in adults and children. eMERGE researchers aim to learn about how people’s family history and genetic makeup affect their risk of developing common conditions such as heart disease, diabetes, and cancer, and about how to use this information to help them reduce their risk. The study will recruit 25,000 participants from around the country, including groups who are underrepresented in biomedical ...

  • Patient Experience and Understanding of Genetic Testing in Ovarian Cancer Rochester, MN

    The purpose of this study is to investigate the experience and understanding of patients with ovarian cancer in relation to genetic testing by means of one-on-one qualitative interviews and survey.

  • AEBP1 Fibroblast Study Jacksonville, FL

    The purpose of this study is to look at function of ACLP in cultured fibroblasts and to gain better understanding on the role of AEBP1 in human disease.

  • A Study to Evaluate Molecular and Biochemical Testing for Suspected Hereditary Disorders Rochester, MN

    The objectives of this study are to perform molecular and/or biochemical testing in individuals with suspected hereditary disorders, and/or their family members, to further elucidate possible mechanisms of disease and/or inheritance, and/or to help yield a final laboratory diagnosis at the judgement of the original ordering healthcare provider. 

  • A Study to Evaluate Economic and Clinical Outcomes of Whole Exome Sequencing Scottsdale/Phoenix, AZ; Rochester, MN

    The overall hypothesis is that the early detection of genetic variants leads to early interventions in cancer development.  This will lead to lower rates of cancer development and will eventually result in lower death rate from cancer.  In the short term, healthcare utilization and costs will increase due to the early interventions and treatments.  In the long term, benefit will start to emerge due to the lower disease development, lower death rate, and retaining of the quality of life and life expectancy.

  • A Study to Evaluate Return of Pharmacogenomic Results Through Direct-to-Consumer Online Portal: Consumer Experiences Rochester, MN

    The purpose of this study is to explore the experiences of consumers in receiving results on genetic risk of malignant hyperthermia and pseudocholinesterase deficiency via an online direct-to-consumer portal that includes robust consumer education and guidance on physician consultation, and to explore the experiences of consumers of MCGG in purchasing and using the product.

  • A Study to Evaluate Patient Experience and Satisfaction with Predictive Genomic Testing Ordered Through SL3 Rochester, MN

    The purpose of this study is to better understand the impact of predictive genomic testing in the healthy adult population by assessing decisional satisfaction/regret, understanding of disease risk, lifestyle modifications, and satisfaction with the testing experience. 

  • A Study to Examine the Genomic Testing Practices by Hematology/Oncology Physicians at Mayo Clinic in Florida No Locations

    The purpose of this study is to examine the genomic testing practices by Hematology/Oncology physicians at Mayo Clinic in Florida in an effort to 1) catalogue the number and type of panel-based tests used as well as 2) determine how often the test findings informed the clinical decision making for the physician and their patient.

  • Hearing Genomics Rochester, MN

    Aims, purpose, or objectives:

    1) Develop hypotheses related to how the human genome and genetic variants affect hearing loss in children and adults.

    2) Understand phenotypes of hearing loss on a deeper level by combining and analyzing information from audiometric, genetic, and radiologic data.

    3) Explore genetic variants with an unknown significance to develop an understanding of their potential significance and explore other genes may influence an individual's hearing ability.

  • Epilepsy Genetics Initiative (EGI) Rochester, MN

    The purpose of this study is to identify genetic causes for epilepsy (sometimes referred to as seizure disorders) and associated co-morbidities such as developmental delay (DD), intellectual disability (ID), and other neurological or neurodevelopmental disorders. We are collecting genetic and clinical information from individuals who have undergone exome/genome sequencing as part of their regular medical care or as part of a research study.

  • A Study to Assess the Natural History and Routine Clinical Management of Congenital Disorders of Glycosylation Rochester, MN

    The purpose of this study is to collect natural history and treatment-related data of patients diagnosed with congenital disorders of glycosylation.

  • A Study of Genetic Testing in the Care of Glioma Patients Rochester, MN

    The purpose of this study is to validate the effectiveness and clinical use of array and next generation sequencing tests in hopes of adopting these tests as standard of care and advancing glioma patient care and clinical practice at Mayo Clinic and beyond.

  • MUC1 Gene Expression No Locations

    Can the genetic makeup of an individual who does not yet have cancer provide an indication of the risk of future cancer?

  • Genomic Assessment in Patients with Untreated Advanced Biliary Cancers and Germ Cell Tumors Scottsdale/Phoenix, AZ

    The long term research goal and objective of this application is to improve the clinical outcomes of patients with biliary tract cancers and germ cell tumors. There is an imminent need to identify novel targets suitable for drug development in patients with these cancers given the need for novel therapeutics for patients diagnosed with BTCs and GCTs.

  • DNA Methylation in Adenocarcinoma of the Prostate: Tissue Validation of Biomarkers and Pilot Testing in Blood Rochester, MN

    The study will be performed in two phases:  Phase I will be performed for biologic validation of marker candidates from a discovery cohort and phase II will be performed to evaluate the discrimination (sensitivity/specificity) of best candidate markers when assayed from blood of cases with CAP and controls without history of cancer. 

  • A Study to Improve the Use of Genetic Testing in Disease Prevention and Clinical Care and to Further Understand Types of Genetic Differences that May Cause Disease Scottsdale/Phoenix, AZ

    The purpose of this study is to form processes to get findings from targeted gene sequencing that can be acted on using two common actionable genetic disorders–familial hyperlipidemia and familial colorectal cancer. 

  • A Study to Evaluate Immune Regulation at the Point Where Maternal Genes and Fetus Genes Meet in the Human Placenta Rochester, MN

    The purpose of this study is to evaluate the immune regulation at the point where maternal genes meet fetal genes in the tissues of the placenta. Specimens from the placentas of healthy pregnancies will be collected, and genetic arrays from both areas, maternal and fetal, will be prepared and compared.

  • A Study for RNA (Genetic) Analysis in Adult Patients with Eosinophilic Esophagitis Rochester, MN

    The purpose of this study is to perform RNA (genetic) sequencing on biopsies taken from the esophagus of adult patients who have active eosinophilic esophagitis, and look for potential therapeutic targets.

  • Somatic Mutation in Rheumatoid Arthritis Rochester, MN

    The purpose of the study is to determine whether somatic mutations in T cells contribute to the pathogenesis of rheumatoid arthritis (RA).

  • Intercept Somatic Rochester, MN

    The goal of this study is to assess the diagnostic yield of concomitant germline and somatic tumor profile testing in a population of cancer patients unselected for family cancer history. In this study, we will retrospectively perform TMP on all cancer patients enrolled into the IRB 18-00326 who underwent germline genetic testing and have tumor tissue available within the Mayo Clinic Tissue Archives. TMP will be performed using a 435 gene platform, along with assessment of tumor mutational burden and microsatellite instability status, among other analyses. Paraffin-embedded tissues will be obtained from the Mayo Tissue Registry and will ...

  • Pharmacogenetic Testing in Children With Persistent Gastroesophageal Reflux Disease Rochester, MN

    This study will use a 22 gene pharmacogenomics panel on 30 children with persistent Gastroesophageal Reflux Disease (GERD) who have not responded to therapy.

  • A Study to Analyze Whole Methylome for Identification of Epigenetic Variations in Undiagnosed Congenital Disorders Rochester, MN

    The purpose of this study is to analyze genome-wide methylation patterns in DNA from patients with suspected hereditary disorders but for whom all previous genetic testing has been negative and/or equivocal.

  • PRe-emptive GEnome Discoveries Improving Care for Biobank VolunTeers (PREDICT) Jacksonville, FL; Rochester, MN

    The purpose of this study is to evaluate the proposed risks and benefits of predictive genomic sequencing, including short-and long-term impacts on:

    (i) health-related outcomes;
    (ii) healthcare utilization;
    (iii) psychosocial impact, and
    (iv) physician acceptance.

  • Beta Testing of the Mayo Clinic GeneGuide Application for Targeted Genomic Testing and Genomics Education Rochester, MN

    The purpose of this study is for The Center for Individualized Medicine (CIM) at Mayo Clinic to discover and translate genomic and molecular science into personalized medical applications

  • Molecular Characterization of Spinal Tissue Rochester, MN

    The researchers are trying to identify molecular mechanisms that control spine deformity and degenerative changes that can be used for therapeutic strategies.

  • A Study to Evaluate Genetic Testing in Guiding Treatment for Patients with Brain Metastases Scottsdale/Phoenix, AZ; Jacksonville, FL; Rochester, MN

    The purpose of this study is to evauate how well genetic testing works in guiding treatment for patients with solid tumors that have spread to the brain. Several genes have been found to be altered or mutated in brain metastases such as NTRK, ROS1, CDK or PI3K. Medications that target these genes such as abemaciclib, GDC-0084, and entrectinib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth. Genetic testing may help doctors tailor treatment for each mutation.

  • Mayo Clinic Cancer Genomics Service Line Biorepository Eau Claire, WI; Scottsdale/Phoenix, AZ; Jacksonville, FL; Rochester, MN

    The goal of the study is to create a database of clinical information and a repository of biological specimens for genetic, molecular and microbiological research to better understand hereditary cancer and help develop new therapies and preventive strategies.

  • Gemini Study to Evaluate the Integration of Cancer Genetic Testing into a Cancer Clinical Practice at Mayo Clinic at Arizona Scottsdale/Phoenix, AZ; Jacksonville, FL

    The purpose of this study is to determine the prevalence of genetic mutations in cancer patients from various ethnic populations seeking care at Mayo Clinic Arizona cancer clinics.

  • Genetic Testing in Screening Patients with Stage IB-IIIA Non-small Cell Lung Cancer That Has Been or Will Be Removed by Surgery (The ALCHEMIST Screening Trial) Scottsdale/Phoenix, AZ; Rochester, MN

    This research trial studies genetic testing in screening patients with stage IB-IIIA non-small cell lung cancer that has been or will be removed by surgery. Studying the genes in a patient's tumor cells may help doctors select the best treatment for patients that have certain genetic changes.

  • Genomic and Environmental Basis of Imperforate Anus Rochester, MN

    The study aims are to develop a consent-based IRB proposal that will enroll newborns who have imperforate anus.  The proposal will include permission for chart review and database information storage, to develop a database that will include MRN, imperforate anus phenotype, information on other congenital malformations, syndromic diagnosis if available, demographic information, and to develop a biobank of DNA and white blood cell samples from infants with imperforate anus. If patients are undergoing a skin biopsy for a medically indicated reason, cells will be requested.

    Imperforate Anus, also known as anal atresia, is a rare birth defect.  ...

  • Pharmacogenomics (PGx) results and clinical data for assessing current and future therapeutic relevance. Rochester, MN

    The goal of this study is to examine the current and (potential) future therapeutic relevance of pharmacogenomics (PGx) testing for a group of patients in order to improve patient clinical care at Mayo Clinic with more effective and efficient prescribing of medications.

  • Genetic Biomarker Discovery for Metastatic Prostate Cancer Rochester, MN

    Biomarkers from circulating cell-free tumor DNA in peripheral blood will identify patients with metastatic prostate cancer diagnosed with C11 choline PET/CT who will benefit from metastasis-directed radiation, ablative therapies, and/or surgery. Tissue and blood will be collected before treatment. If patients receive androgen deprivation, then blood will be collected after neoadjuvant androgen deprivation but before radiation, ablative therapies, or surgery. Subsequent samples will be obtained at 3 months and 6 months following treatment, after which no further patient contact will occur.

  • Pro-active Genetic Testing in Kidney Transplant Patients Scottsdale/Phoenix, AZ; Rochester, MN

    The purpose of this study is to determine the prevalence of genetic mutations of cancer in kidney transplant patients receiving care at Mayo Clinic Arizona.


  • Inherited Breast Cancer Study Rochester, MN; Scottsdale/Phoenix, AZ; Jacksonville, FL

    The purpose of this study is to improve the interpretation of mutations in breast cancer predisposition genes. This will be accomplished by recruiting members of families found to carry deleterious (mainly protein truncating) mutations and evaluating co-segregation of the mutations with cancer within families.

  • GENetic Risk Estimation of Breast Cancer Prior to Decisions on Preventive Therapy Uptake, Risk Reducing Surgery or Intensive Imaging Surveillance Scottsdale/Phoenix, AZ; Jacksonville, FL; Rochester, MN

    The primary aim of this study is to determine if the addition of an individual polygenic risk score (PRS) in addition to the Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS) score will aid women at risk of breast cancer in making a decision to take (or not take) medications to prevent breast cancer.

  • A Study to Assess Genetics, Risk and Education of Mammography Scottsdale/Phoenix, AZ

    The purpose of this study is to to evaluate the integration of cancer genetic testing into a mammography practice aimed toward women at intermediate- to-high lifetime risk of breast cancer. If successful, this will provide an opportunity for cancer risk stratification and individualized screening.


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