Precision Medicine
"Sequencing is the only way to uncover everything about the DNA that governs the onset and progression of so many diseases, and to learn how our DNA keeps us healthy."
"Precise Personalized Patient Care"
Integration of personalized genome analysis and healthcare
Have you seen advertisements on customized skincare products that are designed for individuals? Have you tried to monitor your health through new technologies embedded in your phone or watch?
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Medical interventions can also be tailored to each patient rather than a one-size-fits-all approach. In 2001, the human genome was sequenced for the first time after more than a decade of work with a cost of around $3 billion, known as the Human Genome Project, and with recent advanced technologies, genomes sequencing can be done within a day and is more affordable. Genome sequencing, a way to peek through 3 billion bases of nucleotide molecules that are arranged along the strand of DNA and made us who we are, is becoming a valuable tool to reveal rare diseases and potentially guide the best treatment options for all patients.
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"Whole-genome sequencing produced accurate diagnoses in 34% — a dramatic improvement on the 13% diagnosed by the standard chromosomal microarray analysis and targeted panel sequencing."
-- Christian Marshall, a geneticist at the Hospital for Sick Children in Toronto, Canada
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Her life changed in 2012 after she enrolled in the North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing project. Researchers found a variant in Elizabeth's genome – a mutation of the GCH1 gene. Finally, after many years, Elizabeth was diagnosed with a form of Parkinson's called Dopa-Responsive-Dystonia. The sequencing result also suggested that patients with this type of mutation might respond well to a drug called levodopa. This drug was a miracle for Elizabeth because she could finally walk again, unaccompanied.
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Watch the video of Elizabeth's story. This is how precision medicine at UNC-Chapel Hill helped to diagnose rare disorders and allowed Elizabeth to walk again.
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Living with these rare diseases is a struggle most of the time for many patients as they do not have a concrete diagnosis, and their life quality is profoundly affected. However, researchers called for caution with the growing “new health technologies” in screening genomics information. Like many other medical tests, genomic tests and their data interpretation require rigorous investigation of clinical validity and patient outcome that can serve the best to confirm the benefit and harm of new medical innovation.
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“If genomic innovations have great power to help, they also have power to harm, and patients and the public deserve a rigorous evaluation of what scientists bring to the table.”
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Read about "bringing genetic information into health care is welcome but its utility in the clinic needs to be rigorously reviewed, caution Muin J. Khoury, James Evans and Wylie Burke."
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