User:BluemeetsBlue

Blue meets Blue started this account to write articles on Next Generation DNA Sequencing and the companies that are leading the field in personal medicine.

DRAFT ARTICLE:

MEDomics (www.medomics.com) is the leader in providing Nest Generation (“NextGen”) sequence-based DNA diagnostic testing which enables diagnosis and personalized care of mitochondrial disease for both children and adults. The firm was founded in July 2008 by Steve S. Sommer, MD, PhD, with the mission of providing Mutation Expert-based Diagnosis ("MED") to support the physician in delivering personalized medicine based on analysis of the patient's genome ("omics").

As a frontier in this space, MEDomics was the first CLIA Certified Laboratory in the world focusing in the clinical diagnostic application of Next Generation sequencing. The initial disease focus area has been and will be for the next four years mitochondrial and related diseases, including autism, epilepsy and intellectual disability disorders. MEDomics has developed extensive NGS technical expertise, bioinformatics infrastructure and interpretation capabilities. The world class mutation experts at MEDomics provide unparalleled quality interpretation to aid the practicing physician in diagnosis, genetic counseling and ongoing patient care.

Molecular diagnostics is central to an impending revolution in personalized medicine. Sequenced based genomic oncology and genetic testing are extremely information intensive and time consuming, thereby requiring a different operational model. With the advent of next-generation sequencing, it is now possible to sequence huge amounts of DNA/RNA to elucidate point mutations and insertions/deletions which may sometimes provide a ‘quantum leap’ in the power of diagnostic testing. These tests can lead to better therapeutic intervention and patient care.

In its short life, MEDomics has had several industry firsts, breakthroughs, and successes:

2008 – MEDomics is founded.

2009 – MitoDx - First to market a comprehensive mitochondrial genome sequencing 5,000+ fold with 1% mosaicism (heteroplasmy).

2010 – MitoNucleomeDx – First to market a comprehensive sequencing of a large panel of nuclear genes (312) that can cause mitochondrial disease.

2011 – First initial clinical validation of the “clinical exome” in the context of MitoNucleomeDx.

2012 – MYe Good IDEA - Clinical exome testing at the dawn of the “clinical genomics era” with the most comprehensive neurological disease testing for a group of four neurological diseases is now available, Mitochondrial diseases, Intellectual Disability, Epilepsy and Autism.

MEDomics uses clinical exome sequencing which is the sequencing all of the known structural gene segments. This includes protein coding regions of all 20,000 known genes. The clinical exome sequence is then used to:

- To predict medically actionable proactive delay or prevention of an impending future disease.

- For proactive family planning by in vitro fertilization to maximize the health of future children.

- For individuals and their families suffering from rare and undiagnosed or as yet undescribed genetic disease.

MEDomics is at the fore front in the spectacular (on both medical and economic terms) market of molecular genomics and personalized medicine. With a world class team and top technology, MEDomics is poised to be the defacto leader in Genostics; where Genome meets Diagnostics.