Posted on: Saturday, 11 December 2010, 00:00 CST

Advances in genomic medicine are expected to accelerate most notably in five key areas in 2011, following a year when the field made important strides toward addressing deep-rooted inefficiencies in health care delivery.

San Diego (Vocus) December 9, 2010

Advances in genomic medicine are expected to accelerate most notably in five key areas in 2011, following a year when the field made important strides toward addressing deep-rooted inefficiencies in health care delivery.

That’s the opinion of Dr. Eric Topol, chief academic officer of Scripps Health and director of the Scripps Translational Science Institute in San Diego. Dr. Topol says he expects momentum to continue in 2011 in the following top five areas.

1. Prescription Medications. Patients in the United States spend more than $300 billion a year on prescription medications, but in most cases the drugs either don’t work, cause serious side effects, or both. Now, genomic information is providing valuable intelligence to guide more effective use of medications. Pharmacy benefit managers (PBMs) including Medco and CVC/Caremark recently started genotyping a portion of the 100 million patients they cover for compatibility with Plavix and other medicines. These two companies will likely expand screening to more patients and additional drugs in 2011, with other PBMs almost certain to follow suit. Genetic screening for drug therapy will reduce waste and costs, while improving patient care. This needs to be promoted at the local health system level, and not just through PBMs.

2. Cancer. Genomic sequencing is helping doctors more precisely define the “driver” genetic mutations associated with the development and progression of cancer. And now that sequencing is becoming far less expensive, the ability to sequence everyone with a serious cancer may soon be within reach. Besides an improved capacity to zero in on the driver mutations, another important development is taking shape: the choices of drugs that work on these mutations is expanding, with some already being marketed and others in the pipeline. This is significant, since it’s likely that there will be a combination of drugs that will work on the pathway that has gone off track. Using genomics to find and target cancer tumors will expand worldwide in 2011.

3. Diabetes. The scientific community is starting to learn a great deal more about the genomics of diabetes, a growing epidemic that affects 300 million people worldwide. Diabetes has long been perceived in terms of type 1 and 2, but the genome has revealed numerous variants that predispose people to a great many other forms of the disease. For example, some people are unable to transport or make insulin; others may be resistant to insulin at the tissue level, or the insulin can’t get out of the cell. Expanding and refining the number of subtypes of diabetes will enable physicians to match up therapies, rather than the current approach of prescribing a sea of drugs with hit-or-miss results. More efforts are expected to be focused in this area in 2011, along with greater adoption of wireless monitoring of glucose levels.

4. Physician Education. Only about 10 percent of America’s doctors believe they have enough knowledge of genetics to use it in their medical practice, according to a national study. Yet the vast majority of patients indicate their doctors are the ones they trust with their genomic data. Addressing this paradox will be the focus of the College of Genomic Medicine when it launches in 2011. This online learning and credentialing program will take participants through approximately eight hours of instruction on various aspects of genomic medicine, followed by exam they must pass to be certified. When it comes to educating physicians, the stakes are high. Without getting doctors up to speed, all of the new genomic knowledge – particularly in guiding drug therapy – will be wasted.

5. Personal Gene Tests. Despite being castigated by the medical community and government regulators for their inability to accurately predict disease risk, consumer gene tests will continue to offer important benefits to patients. In addition to their main practical application – guiding drug therapy on an individualized basis – these tests can help prompt many consumers to get appropriate health screening tests they otherwise may have forgone. For example, only about half of those 50 and older get colonoscopies as recommended. There is plenty of room for patients to improve their adherence to screening guidelines across all diseases, and personal gene tests may provide an important tipping point for many.

ABOUT SCRIPPS HEALTH

Founded in 1924 by philanthropist Ellen Browning Scripps, Scripps Health is a $2.3 billion, private not-for-profit integrated health system based in San Diego, Calif. Scripps treats a half-million patients annually through the dedication of 2,500 affiliated physicians and 13,000 employees among its five acute-care hospital campuses, home health care services, and ambulatory care network of physician offices and 22 outpatient centers and clinics.

Recognized as a leader in the prevention, diagnosis, and treatment of disease, Scripps is also at the forefront of clinical research, genomic medicine, wireless health care and graduate medical education. Scripps has been recognized by Thomson Reuters as one of the Top 10 health systems in the nation for quality care. With three highly respected graduate medical education programs, Scripps is a longstanding member of the Association of American Medical Colleges. More information can be found at http://www.scripps.org.

Contact: Steve Carpowich

Phone: 858-678-7183

E-mail: carpowich.stephen(at)scrippshealth(dot)org

# # #

For the original version on PRWeb visit: http://www.prweb.com/releases/prweb2010/12/prweb4880284.htm

Source: prweb

More News in this Category

ScienceDaily (Dec. 8, 2010) — A recent study accepted for publication in The Endocrine Society’s Journal of Clinical Endocrinology Metabolism (JCEM) has demonstrated a novel and accurate test for early diagnosis of Turner syndrome. Turner syndrome affects one in 1,500 to 2,000 female live births and early diagnosis allows for the timely management of short stature and co-morbid conditions including cardiac and renal problems.

Turner syndrome (TS) is the most common genetic problem affecting girls with short stature. Average adult height in untreated girls with TS is 4 feet, 8 inches, yet with early diagnosis and initiation of growth hormone therapy, normal or near-normal adult stature can be achieved. Unfortunately, the vast majority of girls with TS go unrecognized until after 10 years of age. This new study suggests a new way to diagnose TS to help prevent delayed recognition.

“We have developed a novel approach for diagnosing TS that can be used to practically test large numbers of girls and is much quicker and less expensive than the current methods,” said Scott Rivkees, MD, of Yale University School of Medicine in New Haven, Conn. and lead author of the study. “The new test would also provide the benefit of early detection of other health conditions associated with TS, such as potential renal and cardiac problems.”

TS occurs when an X-chromosome is completely or partially deleted. In this study, researchers developed a test based on a quantitative method of genotyping to detect X-chromosome abnormalities. Of 90 clinically-confirmed TS individuals tested, the assay correctly identified 87 (96.7 percent).

“Because of the small amount of DNA needed for the test, ample DNA can be extracted from cheek swabs or from newborn screening blood spots that are routinely collected,” said Rivkees. “If broadly used in the clinical setting at young ages, this test can prevent the delayed recognition of TS.”

Other researchers working on the study include: Anastasia Wise, Peining Li, Henry Rinder and Jeffrey Gruen of Yale University School of Medicine in New Haven, Conn.; and Karl Hager and Seiyu Hosono of JS Genetics in New Haven, Conn.

Disclaimer: This article is not intended to provide medical advice, diagnosis or treatment. Views expressed here do not necessarily reflect those of ScienceDaily or its staff.

The above story is reprinted (with editorial adaptations by ScienceDaily staff) from materials provided by The Endocrine Society, via EurekAlert!, a service of AAAS.

1. Scott Rivkees et al. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. Journal of Clinical Endocrinology Metabolism, March 2011

Note: If no author is given, the source is cited instead.