A Study to Discover and Validate Candidate Genes in Pectus Excavatum
The purpose of this study is to genomically characterize pectus excavatum for the purpose of identifying candidate genes that may be causal in families with multiple pectus excavatum affected members and in those with sporadically occurring pectus excavatum.
A Study of Symptoms, Lifestyle Habits, Physician Counseling, and Direct-to Consumer Genetic Testing in Patients with Hereditary Hemochromatosis
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.
A Study to Evaluate Family Experiences and Advice on Diagnosis and Support (FEADS)
The purpose of this study is to survey individuals and families on their experience of receiving a diagnosis of a sex chromosome abnormality and any follow-up services or support they received, and to solicit information on suggested best practices for the return of a diagnosis and subsequent support services in clinical and social care.
A Study to Evaluate Return of Pharmacogenomic Results Through Direct-to-Consumer Online Portal: Consumer Experiences
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.
Beta Testing of the Mayo Clinic GeneGuide Application for Targeted Genomic Testing and Genomics Education
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