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Sequencing the human genome was one of the major scientific achievements of the last 50 years. Now, this technology has transformed the way we approach and diagnose genetic disease. The Clinical Genomics Service at Stanford Medicine brings the power of genomic sequencing into the hands of our physicians and with it, the knowledge into the hands of our patients. At Stanford, we apply advanced genomic sequencing and expert interpretation to provide more personalized and precise clinical care.
Care and Treatment
Where can I learn more about genomics and some of the issues raised by clinical genome sequencing?
Genetic Alliance, a nonprofit organization, created "Genes in Life" which is a helpful resource to learn about relevant topics related to genetics and genomics. The blog currently is focusing on whole genome sequencing and important questions to consider about the process.
The Stanford Center for Genomics and Personalized Medicine (SCGPM) seeks to advance genomic technology so that someday both genetic and molecular profiling will become powerful and routine tools for predicting disease risk and monitoring and treating a wide range of pathologies.
The Center for Computational, Evolutionary and Human Genomics (CEHG) works at the forefront of the information age of genomics to improve human well-being. Faculty and students from Stanford’s seven schools collaborate on interdisciplinary research projects that support the computational analysis of genomic data.
The ENCODE (Encyclopedia of DNA Elements) Consortium is an international collaboration of research groups funded by the National Human Genome Research Institute (NHGRI). The goal of ENCODE is to build a comprehensive parts list of functional elements in the human genome, including elements that act at the protein and RNA levels, and regulatory elements that control cells and circumstances in which a gene is active.
ClinGen is a National Institute of Health (NIH)-funded resource dedicated to 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 to determine which variants are most relevant to patient care.
The PharmGKB is a pharmacogenomics knowledge resource that encompasses clinical information including dosing guidelines and drug labels, potentially clinically actionable gene-drug associations and genotype-phenotype relationships. PharmGKB collects, curates and disseminates knowledge about the impact of human genetic variation on drug responses.
The Undiagnosed Diseases Network is a research study funded by the National Institutes of Health Common Fund. The Undiagnosed Diseases Network is made up of clinical and research centers across the United States working to improve diagnosis and care of patients with undiagnosed diseases. Dr. Ashley is the primary investigator for the Stanford UDN site.
As part of the Stanford Biomedical Science Initiative, Dr. Ashley, one of the co-directors of the Clinical Genomics Service, and other Stanford faculty members host an annual conference where they seek to bring together thought leaders in large-scale data analysis to ultimately transform the way we diagnose, treat and prevent disease.
Stanford Health Care provides comprehensive services to refer and track patients, as well as the latest information and news for physicians and office staff. For help with all referral needs and questions, visit Referring Physicians.
HOW TO REFER
Fax a referral form with supporting documentation to 650-320-9443.
Track your patients' progress and communicate with Stanford providers securely online.