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Genomics and Medicine

Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use. Already, genomic medicine is making an impact in the fields of oncology, pharmacology, rare and undiagnosed diseases, and infectious disease. The nation’s investment in the Human Genome Project (HGP) was grounded in the expectation that knowledge generated as a result of that extraordinary research [...]

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Applications of Genomics

The knowledge and understanding acquired from genomics research can be applied in a number of different settings, including medicine, biotechnology and social sciences. Although the applications of genomics have already found a place in many areas, there is potential for the study to revolutionize fields involving human and other life on earth even further in the future. Medical applications Recent developments in the technology used to acquire genomic data have opened up new possibilities for medical clinicians and researchers, as information [...]

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Can I have a genomic test?

While some companies offer ‘direct-to-consumer’ genetic tests, at present genomic tests are only offered through the health system and are not government-funded. Melbourne Genomics is working to make genomic testing a routine part of healthcare. The  project is determining the benefits of genomic testing for diagnosis and treatment across a range of medical conditions, and is developing a pathway to provide genomic sequencing to patients within Victoria’s healthcare system. Current phase: 2016 to 2020 Almost 4,000 patients with specific medical conditions have [...]

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Researchers use machine-learning system to diagnose genetic diseases

An expert in genomic and systems medicine research, Dr. Kingsmore holds the world speed record for achieving the fastest molecular diagnosis using whole genome sequencing in 19.5 hours April 24, 2019-San Diego-Researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) have utilized a machine-learning process and clinical natural language processing (CNLP) to diagnose rare genetic diseases in record time. This new method is speeding answers to physicians caring for infants in intensive care and opening the door to increased use [...]

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