Clinical OMICs - Issue 8 - (Page 14)

(continued from previous page) 14 Clinical OMICs August 13, 2014 characterized, opening the door to understanding the interactive roles of environmental, animal, and human microbiomes in health and disease. In 2013, CDC launched the Advanced Molecular Detection (AMD) Initiative, which aims to build critical molecular sequencing and bioinformatics capacities at national and state levels to support public health efforts to control infectious diseases. Genome Sequencing in Healthcare We are now formally in the era of NGS, which includes many applications such as exome sequencing, gene panels, and whole genome sequencing (WGS). This advanced technology is increasingly utilized to identify genetic causes of rare, uncharacterized diseases, particularly childhood conditions. In addition, tumor-based genomic sequencing is beginning to permeate oncology with major advances in molecularly-targeted tumor classification and gene- directed therapy. In 2013, the Blue Cross Blue Shield Technology Evaluation Center evaluated the clinical use of exome sequencing in the diagnosis of rare diseases and reported a significant uptake of the technology into clinical laboratory practice. Despite the promise of sequencing, however, there are significant challenges to its general implementation that require additional research and development including analytic validation, workforce challenges, and ethical issues related to reporting genomic findings. Policy and Legislative Activities In 2013, several branches of the U.S. government were involved in significant policy and legislative activities to enhance implementation of validated genomic applications while curtailing premature use of such technologies. These included: the Supreme Court ruling on gene patents, the FDA authorization of the first, nextgeneration DNA sequencer, the FDA's Using Genomics to Prevent Cancer Now: More than one million people in the United States are at increased risk for adverse health outcomes due to Lynch syndrome and hereditary breast/ovarian cancer. Genetic Alliance ily available genomic tool for disease prevention and healthcare across the lifespan. Family members share genes, behaviors, lifestyles, and environments that together may influence their health and their risk of disease. Most people have a family health history of some diseases (e.g., cancer, coronary heart disease, and diabetes) and health conditions (e.g., high blood pressure and hypercholesterolemia). Family health history can inform evidence-based preventive services, such as screening for elevated cholesterol and osteoporosis. The updated Surgeon General's My Family Health Portrait tool provides consumers with a free and easy way to record their family health information, is published in several languages, and enables the information to be readily shared with family members and health care professionals. Pathogen Genomics and Public Health The emergence of powerful sequencing and bioinformatics tools has completely changed the landscape in the public health fight against infectious diseases. There are numerous applications for pathogen genomics, including diagnosing infection, investigating outbreaks, describing transmission patterns, monitoring antimicrobial resistance, and developing interventions such as vaccines. The emerging field of metagenomics promises to uncover entire communities of microorganisms, including species never before cultured in the laboratory, that may be detected and www.clinicalomics.com http://www.nature.com/nrmicro/focus/metagenomics/ http://www.bcbs.com/blueresources/tec/vols/28/28_03.pdf http://www.cdc.gov/genomics/famhistory/ http://www.cdc.gov/genomics/famhistory/ http://www.cdc.gov/amd/ http://www.cdc.gov/genomics/famhistory/ http://www.cdc.gov/amd/ http://blogs.cdc.gov/genomics/2013/12/12/genome-sequencing/ http://www.cdc.gov/genomics/gtesting/tier.htm#tier1 http://www.ncbi.nlm.nih.gov/pubmed/24074859 http://blogs.cdc.gov/genomics/2013/12/12/genome-sequencing/ http://www.cdc.gov/genomics/gtesting/tier.htm#tier1 http://blogs.cdc.gov/genomics/2013/12/12/genome-sequencing/ http://www.cdc.gov/genomics/gtesting/tier.htm#tier1 https://familyhistory.hhs.gov/fhh-web/home.action https://familyhistory.hhs.gov/fhh-web/home.action http://www.nejm.org/doi/full/10.1056/NEJMoa1306555 http://www.nejm.org/doi/full/10.1056/NEJMoa1306555 http://www.nejm.org/doi/full/10.1056/NEJMoa1306555 http://www.ncbi.nlm.nih.gov/pubmed/23539594 http://jnci.oxfordjournals.org/content/105/22/1671.long http://www.ncbi.nlm.nih.gov/pubmed/23539594 http://jnci.oxfordjournals.org/content/105/22/1671.long http://www.nejm.org/doi/full/10.1056/NEJMp1314561 http://www.nejm.org/doi/full/10.1056/NEJMp1314561 http://www.nejm.org/doi/full/10.1056/NEJMp1314561 http://www.cdc.gov/genomics/update/yr2013/nov27.htm#DTC http://www.cdc.gov/genomics/pathogen/index.htm http://www.cdc.gov/genomics/pathogen/index.htm http://www.cdc.gov/genomics/pathogen/index.htm http://www.clinicalomics.com

Table of Contents for the Digital Edition of Clinical OMICs - Issue 8

Contents

Clinical OMICs - Issue 8