The Genomic Medicine Institute partners with patients, healthcare providers and researchers worldwide to enhance the quality of life through research, education and clinical care innovation in genomic medicine. The institute conducts innovative research in genetics, genomics and family history to enhance the quality of life and improve healthcare value for patients.
Geisinger Genomic Council encourages the use of reference laboratories that have pledged to contribute past, present and future genomic data including genotype and phenotype to national databases to increase medical knowledge and improve patient care. Data from clinical testing should be made publicly available while respecting patient confidentiality. - Adopted October 15, 2014
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to determining which genetic variants are most relevant to patient care by harnessing both research data and the data from the hundreds of thousands of clinical genetics tests being performed each year, as well as supporting expert curation of these data. In 2013, the National Human Genome Research Institute (NHGRI), along with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Cancer Institute (NCI), awarded more than $25 million to support a consortium of research groups to design and implement a framework for evaluating which variants play a role in disease and those that are relevant to patient care. The groups will work closely with the National Center for Biotechnology Information (NCBI) of the National Library of Medicine (NLM), which will distribute this information through its ClinVar database. Learn about each of the groups involved in the ClinGen Resource, their individual charges, and their collaborative efforts.
Geisinger is one of nine sites that make up the electronic Medical Records and Genomics (eMERGE) Network, which uses genomics, statistics, ethics, informatics and clinical medicine to study the relationship between genetic variations and common human traits.
Sponsored by the New York-based Simons Foundation, the Simons Variation in Individuals Project (SVIP) strives to identify and study a large number of individuals with recurrent genetic variations that are often found in people with autism, autistic features and other neurodevelopmental disorders. Geisinger is one of seven research sites in the project.
The MyCode® Community Health Initiative has consented more than 110,000 Geisinger patients who will provide blood and/or tissue samples to be genetically sequenced. That data will be combined with each participant's medical record to provide Geisinger researchers with information to investigate new approaches to disease control, diagnosis and treatment.
Researchers are working with patients and their families on how to provide information from whole genome sequencing of children with undiagnosed diseases that cause intellectual disabilities. Researchers have found that patients and their families want access to the often complex information so that they can take a more active role in the management of their child's condition.
As part of PCORnet, Geisinger researchers are partnering with Parent Project Muscular Dystrophy (PPMD), a parent-led foundation that funds DuchenneConnect, a patient-report registry for people with Duchenne and Becker muscular dystrophies.
Patients with complex, undiagnosed medical conditions are being recruited by Geisinger's Genomic Medicine Institute to participate in a clinical Whole Genome Sequencing program designed to end the diagnostic odyssey by helping to diagnose the condition and improve their healthcare.
Stuckey H, Williams JL, Fan AL, Rahm AK, Green J, Feldman L, Bonhag M, Zallen DT, Segal MM, Williams MS. 2015. Enhancing genomic laboratory reports from the patients' view: A qualitative analysis. Am J Med Genet Part A9999A:1-6.
Williams MS. Perspectives on What is Needed to Implement Genomic Medicine. Mol Genet Genomic Med 3:155-159, 2015.
Williams MS, Ritchie MD, Payne PRO. Interdisciplinary training to build an informatics workforce for Precision Medicine. Applied and Translational Genomics e-published doi:10.1016/j.atg.2015.07.003.
Wade JE, Ledbetter DH, Williams MS. Implementation of Genomic Medicine in a Health Care Delivery System: A Value Proposition? Am J Med Genet C Semin Med Genet 2014 166:112-116.
Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard T, Jarvik GP, O'Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, Flicek P, Gordon ES, Green ED, Green RC, Hurles M, Kawamoto K, Knaus W, Ledbetter DH, Levy HP, Lyon E, Maglott D, McLeod HL, Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS. Characterizing Genetic Variants for Clinical Action. Am J Med Genet C Semin Med Genet. 2014 166:93-104.
Fragoulakis V, Mitropoulou C, Williams MS, Patrinos G. Economic Evaluation in Genomic Medicine. 2015 Elsevier Academic Press.
Smith-Packard B, Myers SM, Williams MS. Girls with seizures due to the c.320A>G variant in ALG13 do not show abnormal glycosylation pattern on standard testing. JIMD Rep. 2015;22:95-8. doi: 10.1007/8904-2015-416. Epub 2015 Mar 3.
Snyder SR, Mitropoulou C, Patrinos GP, Williams MS. Economic evaluation of pharmacogenomics: A value-based approach to pragmatic decision-making in the face of complexity. Public Health Genomics 2014 17:256-64.
Geisinger Health Plan is developing a policy to cover diagnostic exome tests, which are becoming a more common testing option for patients with undiagnosed genetic diseases. Marc S. Williams, MD, director of the Genomic Medicine Institute, was recently interviewed by GenomeWeb for an article on the coverage policy: https://www.genomeweb.com/molecular-diagnostics/geisinger-health-plan-developing-coverage-policy-diagnostic-exomes.
Michael Murray, MD, director of clinical genomics for the Genomic Medicine Institute, discusses the MyCode Community Health Initiative and return of results in a story on GenomeWeb.
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