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Source: Illumina Inc.

President Obama has released more details about his plans to fund a precision medicine initiative that the administration hopes will mean that doctors can deliver the right medicine to the right patient at the right dose at the right time .

The plan to advance personalized medicine includes $215 million in funding that could accelerate demand for Illumina 's gene sequencing solutions.

First, a bit of background The idea of using genetics to create new medicines and determine which patients would respond best to them isn't new. Cancer treatment has been at the forefront of this research for years, both in innovating patient screening and revolutionizing drug development.

For example, the University of California San Diego Moores Cancer Center runs the Center for Personalized Cancer Therapy.

That center runs genetic tests on tumors in a bid to match up patients with the most effective cancer treatments, including both FDA-approved medicines such as Bristol-Myers Squibb 's Opdivo and drugs that are currently in clinical trials, such as BioMarin Pharmaceutical 's BMN-673.

At the center's Institute for Genomic Medicine, or IGM, a lot of that genetic research is being conducted with the help of Illumina's gene sequencing machines. According to the IGM, the Illumina HiSeq 2000, Illumina HiSeq 2500, Illumina MiSeq, and Illumina HiScan System are all used at the facility.

At the tipping point According to the MD Anderson Cancer Center's Sheikh Khalifa Bin Zayed Al Nahyan Institute for Personalized Cancer Therapy, we are converging on a "perfect storm" in personalized cancer treatment that could be"offering the opportunity to make a bold leap forward in personalizing cancer care."

One of the driving forces of this opportunity is the significant advances in speed and cost that have been made over the past decade in sequencing genes.

Excerpt from:
Is This Company the Big Winner in Obama's Push for Precision Medicine?

Medical genetics is the specialty of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, but medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counseling of individuals with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, and mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

Continued here:
Medical genetics - Wikipedia, the free encyclopedia