genetic testing

Medco and FDA to study role of genetic tests

John Carroll — Tue, 19 Aug 2008 08:09:32 -0400

The pharmaceutical benefits manager Medco Health Solutions is partnering with the FDA to examine how genetic testing is coming into play to determine the right drug or dose for a patient. Mining its massive database of claims, Medco will examine whether doctors are willing to use new genetic tests to adjust the dosages that are prescribed to patients as part of a broader exploration of the role of pharmacogenomics in the clinical setting.

This kind of collaboration is considered another significant step down the road to personalized medicine, when a person's genetic profile will determine the therapy and dose needed to treat an ailment. And the FDA wants to know more about the barriers that are likely to slow this trend down along the way.

"We're all about making this field happen as fast as it appropriately should happen," Medco's chief medical officer, Robert Epstein, told the Wall Street Journal.

--see the Medco release
--read the report from the Wall Street Journal

New primate model for Huntington’s will help researchers

John Carroll — Tue, 20 May 2008 09:28:46 -0400

In a first, researchers have developed a primate model for Huntington's disease, eliciting harsh criticism from animal rights experts even as it paves the way for future primate models for a host of degenerative brain disorders. Five rhesus macaque monkeys now produce the rogue protein that leads to Huntington's. And the researchers say the work should help significantly advance work on a cure.

Mice have been used in neurodegenerative research, but don't demonstrate the same kind of symptoms that scientists look for. With the engineered monkeys, researchers will be able to get a much better understanding of the disease and better ways it can be treated in humans.

- read the story from New Scientist

Fearing insurer backlash, patients avoid genetic tests

Tue, 26 Feb 2008 06:59:59 -0500

Patients most likely to benefit from genetic testing are either avoiding it altogether or paying for it themselves to keep hereditary disease out of their health records--and most importantly, off the books of their insurers.

These fears of discrimination are hampering geneticists' ability to recruit research subjects, and they're leading patients to cancel appointments for tests that detect cancer risk. "We are dealing with potential lifesaving interventions," said a doctor at Memorial Sloan-Kettering Cancer Center. "It's a tragedy that people are being scared off by this."

Insurers deny that they discriminate against members based on genetic predispositions. But a study by the Georgetown University Health Policy found that in 7 of 92 underwriting decisions, insurance providers evaluating hypothetical applicants said they would deny coverage, charge more, or exclude certain conditions from coverage based on genetic test results. Legislation outlawing this sort of discrimination--by insurers and by employers--passed the House last year but has yet to reach the Senate floor.

- read the story in the New York Times

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Genentech advances lupus therapy research

Tue, 22 Jan 2008 06:59:59 -0500

A research team at Genentech has identified two new genes that are linked to lupus, further advancing the biotech giant's work to identify new ways to identify and treat patients with the disease. Lead researcher Timothy Behrens unveiled the discovery of the BLK and ITGAM genes last Sunday in the online edition of the New England Journal of Medicine. And he posted his results at the same time a rival group at the International Consortium for Systemic Lupus Erythematosus Genetics released their findings in the journal Nature Genetics. Each gene is believed to attack a different component of the human immune system.

Genentech has two late-stage trials of new lupus therapies underway, a key initiative for the San Francisco-based biotech giant, which is hoping for some big advancements to follow on the footsteps of Avastin. New genetic testing technology in use at Genentech played a big role in the discovery, offering to speed up development work in the field.

- here's the article from the Wall Street Journal

Related Articles:
Genentech's blistering growth starts to cool. Report
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Cells prompted to "eat" Huntington proteins

Mon, 07 May 2007 20:01:39 -0400

Scientists have developed a novel strategy for tackling neurodegenerative diseases such as Huntington's disease: encouraging an individual's own cells to "eat" the malformed proteins that lead to the disease. Professor David Rubinsztein, Wellcome Trust Senior Clinical Fellow at the University of Cambridge, has been studying the molecular biology underlying Huntington's and other neurodegenerative diseases. Huntington's occurs when a protein known as huntingtin builds up in the brain cells of patients, mainly in neurons in the basal ganglia and in the cerebral cortex. Normally, cells dispose of or recycle their waste material, including unwanted or mis-folded proteins, through a process known as autophagy, or "self-eating".

"We have shown that stimulating autophagy in the cells--in other words, encouraging the cells to eat the malformed huntingtin proteins -- can be an effective way of preventing them from building up," says Professor Rubinsztein. "This appears to stall the onset of Huntington's-like symptoms in fruit fly and mice, and we hope it will do the same in humans."

- read the report on the research study

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Mayo researchers find trigger for Huntington's

Mon, 23 Apr 2007 20:01:39 -0400

Cynthia T. McMurray, Ph.D., a professor of pharmacology at the Mayo Clinic, led a research team which has shed new light on the way Huntington's disease develops and how it might eventually be treated or cured. The neurodegenerative disease is triggered by an extra segment of the huntingtin gene that expands and produces a destructive protein that afflicts the brain when it grows too large. The researchers determined that the segment grows when cells try to eliminate oxidative lesions. Working with engineered mice which were designed to develop Huntington's, the researchers found that the oxidative lesions multiplied as they aged, correlating to the growth of the gene segment. They then removed an enzyme involved in oxidative repair work and found that the disease either stopped progressing or developed at a much slower pace. McMurray believes that the enzyme is also responsible for spurring the growth of the gene segment responsible for Huntington's, offering the enzyme--OGG1--as the target for a new therapy for Huntington's. Oxidative lesions also play a role in the development of Alzheimer's and Parkinson's.

- here's the release on the discovery

Related Article:
Huntington's study reveals insights on genetic testing. Report

Genetic variants for most type 2 diabetes cases found

Wed, 14 Feb 2007 19:01:39 -0500

An international team of scientists including Professor Philippe Froguel of Imperial College, London has identified a group of genetic variants that they believe can flag the risk of type 2 diabetes in 70 percent of all cases. The research points the way to new genetic tests that will be able to identify most of the population at risk of adult-onset diabetes. Once they are identified, a combination of diet and exercise could head off the disease. Their work could also advance fresh therapies for treating diabetes. One of the genetic variants for SLC30A8 involves the transfer of mineral zinc in the body, which is needed for the production of insulin.

- check out the release
- read the article from the CBC

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New five-gene test for lung cancer proves effective

Wed, 03 Jan 2007 19:01:39 -0500

Scientists at Taiwan University have developed a five-gene test that can help illuminate which lung cancer patients are likely to benefit from chemotherapy. Standard therapy calls for chemotherapy after surgery to remove a tumor, but some early-stage patients may not gain much benefit from chemo. Others have such aggressive cases that they're unlikely to benefit either.

The scientific team led by Hsuan-Yu Chen studied 125 patients and identified 16 genes that figured into their risk profile. They then narrowed that down to five genes that could be used to gain a clear picture of a person's risks. Specialists in the field say it's time to use the same process employed in breast cancer to identify which patients should be provided chemotherapy.

- check out the AP report for more information

ALSO: Researchers at Duke have developed a method to load fat particles with chemotherapy drugs, delivering targeted quantities of the therapy. Report

Related Articles:
Genetic testing advances as insurers balk. Report
Huntington's study reveals insights on genetic testing. Report

Huntington's study reveals insights on genetic testing

Wed, 09 Aug 2006 20:01:39 -0400

Working with a team of scientists, neurologist Ira Shoulson, M.D., of the University of Rochester Medical Center has been undertaking a study of Huntington's disease that provides some real insight into how people will respond to a wave of genetic tests that are being developed and marketed. The group is repeatedly testing a group of 1,001 people who are at high risk of developing Huntington's, an incurable disease. These people, who have at least one parent who had the disease, have a 50 percent chance of developing it themselves. Interestingly, though, while a blood test exists to see if they have the gene that causes the disease, only one in ten of people who are at risk chose to be tested. The purpose of the test is to find therapies to alleviate or postpone the development of the disease. The team doesn't know why, but more than twice as many women as men have signed up to take part in the study.

- here's the report from EurekAlert for more information

PLUS: While we're on the subject of genetic testing, researchers say that they have developed one that reliably predicts whether the most common form of lung cancer will occur after surgery. Article