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Genetic testing and the genomic era- perspectives for clinical practice

Zooming in to focus on particular sections of the FDA Amendments Act of 2007, I first took note of Section 1103 of the FDAAA, “improving genetic test safety and quality,” which requires that by July 2008 the Secretary’s Advisory Committee on Genetics, Health, and Society/Genomic Testing study and report on its assessment of the overall safety and quality of genetic tests, including recommendations to improve Federal oversight and regulation of genetic tests (or in the alternative, contract with the IOM to study and report within a year or less).

Ideas about what “personalized medicine” or “individualized medicine” might mean for us continue to be explored in terms of the anticipated impact of the “genomic era” and how our experience in disease prevention and drug treatment might be changed by new paradigms based on knowledge of individual genetic susceptibilities.

A couple of recent articles are in JAMA and Nature online-- to read about them, view the extended page.

JAMA, October 10, 2007, volume 298, no. 14, 1682 . Authors Wylie Burke, MD, PhD and Bruce M. Psaty MD, PhD. of the University of Washington, Seattle, WA. note in their commentary entitled, “Personalized Medicine in the Era of Genomics” that “Each new genetic test will need to be evaluated and assessed to demonstrate that the overall health benefits exceed the harms before it is implemented in practice. The fundamental principle is that genetic risk information will be useful only if it guides more effective , or more cost effective use of medical interventions that can be achieved without the risk of information.” Visit http://www.ahrq.gov/clinic/uspstfab.htm
to read about the new US Preventative Services Task Force and methodology used to evaluate the relevant outcomes of testing and the effects of any associated clinical interventions. The authors further observe that new clinical interventions based on genomic knowledge are a route (indirect) to clinical utility and that new clues to disease biology by the identification of genes and biological pathways associated with the disease process may over time produce new approaches to treatment or preventions. They conclude that personalized medicine has always been a component of good medical practice. While "...genetic tests may provide new tools, they do not change the fundamental goal of clinicians to adapt available medical tests and technologies to the individual circumstance of their patients."

Looking forward: In March 2008, JAMA will devote an entire theme issue to practical applications of genetics and genomics that are or might become clinically important. Topics of particular interest include genetic diagnosis including prenatal tests, genetic testing especially for illnesses for which presymptomatic intervention is possible, pharmacogenomics, gene therapy, evolutionary medicine such as genotypes with proven adaptive responses to emerging infections, genetic counseling, and ethical issues surrounding genetics.

In his article, “A Vision of Individualized Medicine (IM) in the Context of Global Health”, D.A. Cortese, ( President and CEO, Mayo Clinic, Rochester, Minnesota, USA, and Member of the Institute of Medicine of the National Academies) describes a proposed model to bring IM to patients of an integrated delivery system. With proper infrastructure and protection for patient confidentiality, it could serve as a starting point for a framework that could be replicated nationally and globally. Key components include:

•Clinical (patient-specific data) and biological patient data (laboratory testing, imaging, genomics, and proteomics testing);
•Data integration, which collects, stores, and collates patient data, and provides it in a retrievable format;
•Informatics computation, which uses analytical methods, mathematical modeling, statistics, and computational simulation techniques to analyze individualized data at the molecular level; correlates the information among patient groups and subtypes; and generates knowledge to guide individual patient-care decisions;
•Decision support, which aids in clinical decision making at the point of patient care. This process can provide professionals and patients with the latest knowledge and serve as an educational resource related to a specific condition.

He recommends that (i) we find a better way to shorten the time it takes to disseminate and implement higher-value medical knowledge. A technological solution is necessary, (ii) medical professionals must become team players rather than independent practitioners (currently, medical students are exposed to a highly competitive process that fosters individual knowledge, responsibility, and autonomy). Health-care professionals should share information and work together—across disciplines, across national borders—to integrate care for the patient, (iii) medical education programs should teach engineering skills to students early on in their academic careers. A recent report by the National Academy of Engineering and the Institute of Medicine suggests that a partnership between health-care professionals and engineers could significantly improve how patient-focused health care is delivered.
The overarching goal of the discipline of IM—defined by a systems-integration approach—is to enhance the medical management of each patient by ensuring the availability of innovative, effective, efficient, timely, and safe diagnostic and therapeutic modalities. By synthesizing patient-specific information and linking it with clinical guidelines, relevant publications, and new research, IT can bring educational tools to physicians, nurses, aides, and patients to support IM at the point of patient care—anywhere in the world. His article and the proposed model figure are in Clinical Pharmacology & Therapeutics (2007) 82, 491–493. doi:10.1038/sj.clpt.6100390 http://www.nature.com/clpt/journal/v82/n5/full/6100390a.html

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This page contains a single entry from the blog posted on October 30, 2007 12:17 PM.

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