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9:20AM 11/12/2014 – Panel Discussion – Genomic Technologies @10th Annual Personalized Medicine Conference at the Harvard Medical School, Boston

Posted in Academic Publishing, Conference Coverage with Social Media, Personalized and Precision Medicine & Genomic Research, Scientific & Biotech Conferences: Press Coverage, tagged #endcancer, #healtcare, #pharmaIT, #pharmanews, Agilent Technologies, Bioinformatics, Brigham and Women's, Cancer Genomics, Chip-Sequencing, clinical omics, DNA nanotechnology, emerging technologies, epigenomics, Framingham Heart Study, Full genome sequencing, genomic technology, Harvard MedicalSchool, healthcare, Illumina, MD Anderson Cancer center, personalised medicine on November 12, 2014| Leave a Comment »

9:20AM 11/12/2014 – 10th Annual Personalized Medicine Conference at the Harvard Medical School, Boston

Reporter: Aviva Lev-Ari, PhD, RN

REAL TIME Coverage of this Conference by Dr. Aviva Lev-Ari, PhD, RN – Director and Founder of LEADERS in PHARMACEUTICAL BUSINESS INTELLIGENCE, Boston http://pharmaceuticalintelligence.com

9:20 a.m. Panel Discussion – Genomic Technologies

Genomic Technologies

The greatest impetus for personalized medicine is the initial sequencing of the human genome at the beginning of this Century. As we began to recognize the importance of genetic factors in human health and disease, efforts to understand genetic variation and its impact on health have accelerated. It was estimated that it cost more than two billion dollars to sequence the first human genome and reduction in the cost of sequence became an imperative to apply this technology to many facets of risk assessment, diagnosis, prognosis and therapeutic intervention. This panel will take a brief historical look back at how the technologies have evolved over the last 15 years and what the future holds and how these technologies are being applied to patient care.

Genomic Technologies

Opening Speaker and Moderator:

George Church, Ph.D.
Professor of Genetics, Harvard Medical School; Director, Personal Genomics

Genomic Technologies and Sequencing

highly predictive, preventative
non predictive

Shareable Human Genomes Omics Standards

$800 Human Genome Sequence – Moore’s Law does not account for the rapid decrease in cost of Genome Sequencing

Genome Technologies and Applications

Genia nanopore – battery operated device
RNA & protein traffic
Molecular Stratification Methods – more than one read, sequence ties
Brain Atlas – transcriptome of mouse brains
Multigenics – 700 genes: hGH therapies

Therapies

vaccine
hygiene
age

~1970 Gene Therapy in Clinical Trials

Is Omic technologies — a Commodity?

Some practices will have protocols
other will never become a commodity

Panelists:

Sam Hanash, M.D., Ph.D. @MDAndersonNews

Director, Red & Charline McCombs Institute for Early Detection & Treatment of Cancer MD Anderson Cancer Center

Heterogeneity among Cancer cells. Data analysis and interpretation is very difficult, back up technology

Proteins and Peptides before analysis with spectrometry:

PM – Immunotherapy approaches need be combined with other techniques
How modification in protein type affects disease
amplification of an aberrant protein – when that happens cancer developed. Modeling on a CHip of peptide synthesizer

Mark Stevenson @servingscience

Executive Vice President and President, Life Sciences Solutions
Thermo Fisher Scientific

Issues of a Diagnostics Developer:

FDA regulation, need to test on several tissues
computational environment
PCR, qPCR – cost effective
BGI – competitiveness

Robert Green, MD @BrighamWomens

Partners, Health Care Personalized Medicine — >>Disclosure: Illumina and three Pharmas

Innovative Clinical Trial: Alzheimer’s Disease, integration of sequencing with drug development

Population based screening with diagnosis
Cancer predisposition: Cost, Value, BRCA
epigenomics technologies to be integrated
Real-time diagnostics
Screening makes assumption on Predisposition
Public Health view: Phenotypes in the Framingham Studies: 64% pathogenic genes were prevalent – complication based in sequencing.

Questions from the Podium:

Variants analysis
Metastasis different than solid tumor itself – Genomics will not answer issues related to tumor in special tissues variability

– See more at: http://personalizedmedicine.partners.org/Education/Personalized-Medicine-Conference/Program.aspx#sthash.qGbGZXXf.dpuf

Genomics and Medicine: The Physician’s View

Posted in Best evidence, Bio Instrumentation in Experimental Life Sciences Research, Biomarkers & Medical Diagnostics, Biomedical Measurement Science, CANCER BIOLOGY & Innovations in Cancer Therapy, Cardiomyopathy, Cardiovascular Pharmacogenomics, Cardiovascular Research, Cerebrovascular and Neurodegenerative Diseases, Coagulation Therapy and Internal Bleeding, Evidence-based decision-making, FDA Regulatory Affairs, Frontiers in Cardiology and Cardiovascular Disorders, Genome Biology, Genomic Expression, Genomic Testing: Methodology for Diagnosis, Health Economics and Outcomes Research, Health Law & Patient Safety, Healthcare costs and reimbursement, HealthCare IT, Hematopoiesis, Infectious Disease & New Antibiotic Targets, Infectious Disease Immunodiagnostics, Innovation in Immunology Diagnostics, Liver & Digestive Diseases Research, Medical and Population Genetics, Molecular Genetics & Pharmaceutical, Myelodysplasia, Myelofibrosis, Neurodegenerative Diseases, Origins of Cardiovascular Disease, Personalized and Precision Medicine & Genomic Research, Pharmaceutical Analytics, Pharmaceutical R&D Investment, Pharmacogenomics, Pharmacologic toxicities, Population Health Management, Genetics & Pharmaceutical, Pre-Clinical Animal Model Development, Prescription Drugs Costs, Regenerative Biology and Medicine, Stem Cells for Regenerative Medicine, Translational Effectiveness, Translational Science, tagged biomarkers, biomedical, clinical decision-making, diagnostics, genetic biomarkers, genome modification, genomic technology, genomics, Medical genetics, pharmacogenomics, pharmacotoxicity, structured medical exam, structured medical record on January 3, 2014| Leave a Comment »

Genomics and Medicine: The Physician’s View

Author and Curator: Larry H. Bernstein, MD, FCAP

Genomics has had a rapid growth of research into variability of human genetics in both healthy populations in the study of population migration, and in the study of genetic sequence alterations that may increase the risk of expressed human disease. This is the case for cardiology, cancer, inflammtory conditions, and gastrointestinal diseases. For the most part, genomics research in the last decade has shed light on potential therapeutic targets, but the identification of drug toxicities in late phase trials has been associated with a 70 percent failure rate in bringing new drugs to the market. Despite good technologies for investigative studies, initial work is carried out on animals and then the transferrability of the work from a “model” to man has to be assured. That is the first issue of concern.

Secondly, there is a well considered reluctance on the part of experienced and well prepared physicians to be “early” adopters to newly introduced drugs, with the apprehension that unidentified clinical problems can be expected to be unmasked. It is, however, easier to consider when a new drug belongs to an established class of medications, and it has removed known adverse effects. In this case, the adverse effects are known side effects, but not necessarily serious drug reactions that would preclude use.

A third consideration is the cost of drug development, and the cost of development is passed on to the healthcare organization in the purchasing cost. We can rest assured that the Pharmacy and Therapeutics Review Committee will not cease meeting on a regular schedule anytime soon. Further, how do the drug failures become embedded in the cost of the pharmaceutical budget passed on to the recipient. Historically, insurance is an actuarial discipline. But in the lifetime of an individual, they are bound to see a physician for acute or chronic medical attention. Only the timing cannot be predicted. As a result, dealing with the valid introduction of new medications is a big concern for both the public and the private insurer.

How does this compute for the physician provider. The practice of medicine is not quickly adaptive, as the physician’s primary concern is to do no harm. Genomics testing is not widely available, and it is for the most part not definitive for diagnostic purposes as things stand today. It may provide assessment of risk, or of survival expectation. The physician uses a step by step assessment, using the patient and family history, a focused physical exam, laboratory and radiology, proceeding to other more specialized exams. Much of the laboratory testing is based on the appearance in the circulation of changes in blood chemistry of the nature of electrolytes, circulating cells in the blood and of the blood forming organ, proteins, urea and uric acid. They are not exquisitely sensitive, but they might be sufficient for their abnormal concentrations appearing at the time the patient presents with a complaint. What tests are ordered is determioned by a need for relevant information to make a medical decision.

The relevant questions are:

1. acuity of symptoms and signs.
2. actions to be taken.
3. tests that are needed to clarify the examination findings.

once a provisional diagnosis is obtained, referrals, additional testing, and medication orders are provided based on the assessment.

Where does genetic testing fit into this? At this point, it will only be used

to confirm a restricted list of diagnoses that have a high association with the condition, and
only with the participation of a medical geneticist, when
profiling the patient and other members of the family is required.