PPT-Lecture IV: Genomic Medicine: Communicating with the Patient

Julianne ODaniel MS CGC Joan Scott MS CGC Elizabeth Varga MS CGC VO Speights DO Erynn Gordon MS CGC March 2012 TRiG Curriculum Lecture 4 1 What will be the pathology report of the future. Genomic Medicine : An emerging medical discipline that involves using genomic information about an individual as part of their clinical care(e.g.,for diagnostic or therapeutic decisionmaking) andtheot . 20. . – . Epigenomics. –. Animals. . BIOL 5190/6190 Cellular & Molecular . Singal. Transduction. Prepared by Bob Locy. Last modified -13F. Epigenetic Regulation. by . piwi. -associated DNA methylation in Mammalian . Clinical presentation. 69 y/o female with a 3 day history of posterior cervical pain and posterior headache.. On 8/13/15 at 2:30 PM she presented with sudden severe worsening of her pain, reported as 10/10 with some photophobia and dizziness. Short- Middle- and Long- range non-. radomness. in the Human Genome. Alexei . Fedorov. Genomic mid-range inhomogeneity correlates with an abundance of RNA secondary structures. Bechtel JM, Wittenschlaeger T, Dwyer T, Song J, Arunachalam S, Ramakrishnan SK, Shepard S, Fedorov A. Motivation and Inspiration. Green ED, Guyer MS. . . Nature . 2011; 470:204-13.. How are we going to do this?. What is actually going on in the field?. What role should NIH/NHGRI play to support and accelerate progress? . Genomic Medicine. In announcing on June 26, 2000, that the first draft of the human genome had been achieved, President Clinton said it would “revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.”. National Human Genome Research Institute. National Institutes of Health. U.S. Department of Health and Human Services. U.S. Department of Health and Human Services. National Institutes of Health. National Human Genome Research Institute. Programme. and can be adapted and used for local education and training about the patient choice consent model being implemented for whole genome sequencing in the NHS Genomic Medicine Service. . Please note that this does not address . Skin SSG . May 2018. Catherine Carpenter-Clawson, Programme Manager, WE GMC. Courtesy of Genomics England. From . Genetics . to . Genomics. Genetic testing = single gene. (. s. ). or panels. . Exome sequencing = coding DNA . post 100,000 . Genomes . Project. Update . – Haem SSG . Nov 2018. Contents. Genetics and genomics. Background to 100,000 Genomes Project. Project progress. What next? Mainstreaming Genomic Medicine. Laura Yarram-Smith. SWGLH Solid Tumour Laboratory Lead. 20/09/2019. Breast Cancer Genomics. Genomics in England and Genomic Lab Hub. Genomic Test Directory. Genomic Biomarkers in Breast Cancer. Future technologies . begs the question: how long will it take other countries to similarly oer access to genomic medicine? What key barriers exist to the implementation of genomic medicine?Given the current disparities i Chris Wragg, Lead Cancer Scientist, SWGLH. 6. th March 2019. Contents. 100,000 Genomes Project. National update. Update on the future genomic medicine service. National delivery of 100,000 . Genomes . Working together towards a common strategy . Overview. Implementing Genomic Medicine. Vision. Scope & Purpose. Background. SNOMED CT Strategy . (what & how). Strategic objectives. Next steps.