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Showing posts with label Sequencing. Show all posts
Showing posts with label Sequencing. Show all posts

Friday, May 13, 2016

Precision Medicine in Oncology

The White House Proposes Increased Funding For a National Precision Medicine Initiative

In his 2015 State of the Union address, President Obama stated his intention to fund a national Precision Medicine Initiative (PMI), defined by the NIH as an emerging approach for disease prevention and treatment that takes into account individual variations in genes, environment, and lifestyle.

The White House said that it will ask Congress for $215 million to fund the assembly of databases. Through the data, from over one million patients, scientists and researchers will be able to individualize care and generate the requisite scientific evidence to move the concept of precision medicine into clinical practice.

The initiative, in the near-term, focuses on cancer, with other disease areas included over the longer term. Of the $215 million, the White House proposed $70 million in increased funding for the NCI to advance the field of precision oncology.

Basically the initiative funds efforts to integrate and apply the explosion of molecular data on humans, particularly data associated with individual patients, and taps into opportunities to use it to improve health outcomes. The “time is right” for the initiative, NIH says, because of the sequencing of the human genome, improved technologies for biomedical analysis, and new tools for using large datasets.


MATCH clinical trials analyze tumors for abnormalities using a targeted sequencing
assay that includes 143 genes selected using the Oncomine Knowledgebase.

Tuesday, April 26, 2016

A personal interpretation

There is a clear move away from a ‘one size fits all’ approach to medicine and instead a new personalized medicine strategy is becoming more important. Mike Furness explains more about multiomics.

It has been known for a while that people with different genotypes respond to drugs differently. Knowledge gained from studying rare genetic disease has improved understanding of important biological pathways, creating the opportunity for more effective treatments.

For early developmental diseases this has meant that each symptom is investigated in isolation, by a specialist in that area. The patient is sent from one clinician to another. On average a child with a rare genetic disease will been seen by seven physicians over a five year period before a diagnosis may be found. For many of these children there will be no diagnosis but recent advances in genomics will address this problem.

It was against this background that the Discovering Development Disease (DDD) project was established between the NHS and the Wellcome Trust Sanger Institute. It has so far genotyped around 14,000 children with undiagnosed conditions and their parents, providing diagnoses for around 40% of these families, and identifying clusters of affected children that had similar clinical characteristics and shared damaging genetic variants in the same gene. Many of these genetic diseases are so rare that a clinician may see only one or two cases in a career; so being able to compare their patient’s genetics to this growing body of knowledge is a major step forward in helping consultants determine a definitive diagnosis.



Source: shutterstock
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