domingo, 14 de octubre de 2012

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News Headline Story |

Mount Sinai School of Medicine Offers First-Ever Course with Whole Genome Sequencing

PR Web
(PRWEB) October 08, 2012

Mount Sinai School of Medicine announced the launch of a first-ever course where students have the option to sequence, analyze, and interpret their own complete genome using state-of-the-art whole genome sequencing.

The elective course, titled “Practical Analysis of Your Personal Genome,” is designed to address a gap in today’s medical and graduate school education: to teach students how to understand and apply the wealth of information now available via whole genome sequencing, a laboratory process that reveals the unique genomic profile of each individual performed in the Genomics Core Facility at Mount Sinai. This course is offered through the Genetics and Genomic Sciences training area within the Graduate School of Biological Sciences.

Specifically, whole genome sequencing refers to full elucidation of an organism’s DNA, which involves more than 3 billion nucleotide bases known as A,T, C, and G. It is an important part of a new era in modern medicine—called precision medicine—where precise knowledge of the molecular mechanism behind a patient’s condition would ultimately allow physicians to determine more individualized care. Recent technological advances have substantially lowered the cost of whole genome sequencing to where it can soon be applied in routine clinical care.

“For precision medicine to become a routine in the medical clinic, we need to train the next great generation of physicians to harness sequencing-driven medical genetics,” explained Dennis S. Charney, MD, Anne and Joel Ehrenkranz Dean of Mount Sinai School of Medicine and the Executive Vice President for Academic Affairs of The Mount Sinai Medical Center. “We believe that an approach tailored to each individual patient’s diagnosis and treatment, informed by genomic information, will provide dramatic improvements in the quality of care. Practical Analysis of Your Personal Genome reflects Mount Sinai’s commitment to revolutionize the diagnosis and treatment of disease through the application of genomic information.”

Andrew Kasarskis, PhD, Vice Chair, Department of Genetics and Genomic Sciences, said, "Unlike other courses that use commercial services to provide students with only a small portion of their genetic data, we decided to offer students in the course the unprecedented opportunity to do whole genome sequencing to view, analyze and interpret their entire genome." Dr. Kasarskis is also Co-Director, Mount Sinai Institute for Genomics and Multiscale Biology at Mount Sinai.

Students have the option to either sequence their own personal genome or that of an anonymous reference genome. When analyzing a complete genome, students will find greater than 4 million variants, many with known clinical significance, yet many with unclear significance. Students may find variants in their chosen genome related to ancestry, response to medications, the risk of developing diseases such as diabetes or cancer, and carrier status for single-gene disorders.

Mount Sinai also is conducting a questionnaire-based study to explore the degree to which course students who analyze their own genome demonstrate greater knowledge, as well as their perceptions regarding the utility of whole genome sequencing, and the impact on psychological wellbeing. This research will help faculty to learn how best to help students to interpret and analyze the wealth and complexity of genomic data, including potentially difficult findings such as risks of disease and carrier status. The results of the research study will be available after the course concludes in December.

The 20 students in the course represent a diverse collection of MD and PhD students, medical residents, genetic counseling students, and junior faculty. “Though there was an emphasis on genetics, students were selected from a variety of backgrounds to reflect the interdisciplinary nature of applying genomic information to patient care,” said Randi E. Zinberg, MS, CGC, Assistant Professor of Genetics and Genomic Sciences and of Obstetrics, Gynecology and Reproductive Science, and Director of the Graduate Program in Genetic Counseling at Mount Sinai School of Medicine.

“We expect that courses such as ours will soon become an integral part of the curriculum at all medical schools. We look forward to sharing our learning from this course with other medical schools and graduate schools worldwide to help advance the breadth and depth of medical genetics education,” Ms. Zinberg said.

About The Mount Sinai Medical Center

The Mount Sinai Medical Center encompasses both The Mount Sinai Hospital and Mount Sinai School of Medicine. Established in 1968, Mount Sinai School of Medicine is one of the leading medical schools in the United States. The Medical School is noted for innovation in education, biomedical research, clinical care delivery, and local and global community service. It has more than 3,400 faculty in 32 departments and 14 research institutes, and ranks among the top 20 medical schools both in National Institutes of Health (NIH) funding and by U.S. News & World Report.

The Mount Sinai Hospital, founded in 1852, is a 1,171-bed tertiary- and quaternary-care teaching facility and one of the nation’s oldest, largest and most-respected voluntary hospitals. In 2012, U.S. News & World Report ranked The Mount Sinai Hospital 14th on its elite Honor Roll of the nation’s top hospitals based on reputation, safety, and other patient-care factors. Mount Sinai is one of 12 integrated academic medical centers whose medical school ranks among the top 20 in NIH funding and by U.S. News & World Report and whose hospital is on the U.S. News & World Report Honor Roll. Nearly 60,000 people were treated at Mount Sinai as inpatients last year, and approximately 560,000 outpatient visits took place.

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