Strengthening the promise are:

• A new genetic test technology that eliminates the need for PCR (polymerase chain reaction)processing, which could further stimulate the rapidly growing genetic testing market. A substantial venture capital investment suggests that the technology could be a success if it is approved when clinical trials are concluded later this year, 

   

• The discovery of a genetic marker for the malignant form of prostate cancer, which could lead to a diagnostic test to help determine how aggressively to treat an individual patient, 

   

• A gene therapythat essentially “vaccinated” mice against diabetes and could be the key to unlocking the disease’s secrets, and 

   

• Another large DNA database, that will accelerate research and understanding of pharmacogenomicsand lead, among other things, to better genetic tests. 

On the therapy side of genetics, an attempt to use gene therapy techniques to deliver RNAi therapy resulted in the deaths of experimental mice, but it is not a “showstopper” for RNAi therapy itself.

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A May article in the mass-market Good Housekeeping magazine said genetic tests are now “as simple as ordering takeout.” But are consumers ready to receive (without a doctor’s professional mediation) unwelcome news? That is just one of what Sandra G. Boodman in the Washington Post describes as “the promises and perils of the nascent, growing and largely unregulated phenomenon….”

She gives two examples: “A woman tested for hereditary breast cancer may mistakenly think a negative result on a home test means she can forgo regular mammograms. In fact, breast cancer genes account for only a fraction of cases. Similarly, someone who receives a positive finding on a DNA-based colon cancer screening test may have cancerous polyps that can be removed, colon cancer that has spread or neither because the test is a false positive.”

In 2004 the American College of Medical Genetics advised the public to avoid mail-order genetic tests, which are flurishing in “a regulatory vacuum” and are available from nearly a dozen companies for cancer, blood disorders, and other diseases. Others offer personalized diet or skin care recommendations based on scientifically dubious genetic tests. The US Food and Drug Administration regulates test kits sold to labs to detect about a dozen genetic diseases, but not DNA tests assembled, sold, and analyzed in-house by various labs.

DNA Direct offers testing for about a dozen conditions or diseases, with prices ranging from $199 for hereditary hemochromatosis, to $3,300 for tests for the BRCA genes associated with breast and ovarian cancer, and requires approval by a medical geneticist for tests ordered online by consumers, and phone counseling before and after testing for infertility and breast cancer testing. Before receiving a test kit, users complete an online risk quiz to help ensure a consumer is receiving the proper test. DNA samples are analyzed by large commercial labs and the consumer receives the results online within a month, along with recommendations about follow-up and a letter to give their physician and family members. DNA Direct says one-third of its customers have been found to carry a genetic mutation, substantially higher than the 5 to 10 percent seen in genetics clinics.

Testing 2

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The Oncotype DX genetic test can help some women safely skip chemotherapy following breast cancer surgery. And that’s “only the opening salvo” in personalized cancer therapies for other malignancies, writes Lauran Neergaard for the Associated Press. Women diagnosed with early breast cancer have “a remarkably good prognosis,” since their tumors are small, haven’t spread, and are hormone-sensitive. While most would survive with surgery, radiation, and hormone treatment, they have been receiving chemotherapy as well just in case they are the few who need more aggressive help from chemotherapy. The US$3,000 test checks the tumor for 21 genes whose interactions predict the likelihood of a relapse. A high or a low likelhood is definitive, but for women who fall in between it remains unclear if they would benefit from chemo or not. A new study is underway to try to asnswer that question.

Another genetic test checks for seven genetic variations to predict whether a patient with hepatitis C will develop cirrhosis of the liver, and therefore who is most in need of immediate treatment and who can wait, reports Karen Barrow in the Denver Post. At present, one doctor told her, determining which patient will develop liver damage as a result of hepatitis C is basically a “flip of a coin.” The test could prevent both unnecessary pain and unnecessary major expense for a patient misdiagnosed to develop cirrhosis, which can cost more than $30,000 a year to treat with medicines that cause major side effects. FDA approval is being sought for this test, which is estimated to cost around $1,000.

PCR-less Tests

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In May, Nanosphere, Inc. received a US$57 million injection of venture capital to commercialize the “Verigene System,” which a company press release describes as “a platform for user-friendly, cost-effective direct genomic testing that eliminates the need for Polymerase Chain Reaction (PCR), and to continue development and commercialization of its “Biobarcode” technology for “ultra-sensitive detection of proteins and nucleic acids.” “Biobarcode offers the potential to advance the diagnosis of and development of treatments for cancer, cardiovascular and neurological disorders, infectious diseases, as well as biowarfare agents. Nanosphere’s direct genomic detection technology simplifies genetic testing to eliminate the need for sophisticated labor, cost-prohibitive instrumentation, and dedicated lab space. It will enable broader access to genetic testing technology, therefore decentralizing molecular testing from a few sophisticated academic laboratories to the point of care.” The company says it is now “focused on clinical trials in preparation for an anticipated commercial launch later this year.”

Marker for Prostate

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The discovery of a variant gene associated with prostate cancer may make possible a diagnostic test to help decide which patients are the best candidates for aggressive treatment. It may also help explain why African-Americans, in whom the variant is more common, have a greater incidence of the disease.

The new variant was found among males in Iceland, Sweden, and two populations in the United States, and is carried by about 13 percent of men of European ancestry. It raises the risk of getting prostate cancer by 60 percent, compared with men who are not carriers, and accounts for about 8 percent of all cases. Among African-Americans, the variant carries the same risk but is twice as common, which could explain “a significant part” of the reason that prostate cancer is more common in this population. It is associated only with malignant forms of the disease, which might explain why African-Americans more often die from the disease, in addition to having a higher incidence than white Americans.

DeCode Genetics, which discovered the variant, plans to develop a diagnostic test that would help physicians decide how aggressively to treat the disease, especially in men over 70, on the assumption that men who carry the variant are more likely to develop serious cancer.

Promising Therapy

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University of Pittsburgh researchrs have developed a gene therapy that prevented the onset of Type 1 diabetes in mice. The senior investigator told this year’s the annual meeting of the American Society of Gene Therapy “We actually deliver therapeutic genes in an animal model of diabetes and it completely blocks diabetes. It’s a fairly dramatic effect, so we’re excited about it.” The researchers attached a gene that makes interleukin-4, a cytokine than inhibits inflammation, to a harmless adeno-associated virus.

The package was designed to be active only in pancreatic islet cells that make insulin, where the IL-4 appeared to interfere with the immune cell attack on insulin-producing cells, thereby protecting them from destruction. By making possible experimentation with different gene payloads to see which genes work and which causes damage, the method will enhance understanding of the disease process.

Accelerating the Trend to Pharmacogenomics

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Vanderbilt University Medical Center will launch a US$5 million effort to built a database of DNA sampled from the blood of 400,000 patients at the hospital and its clinics. The databank is expected to be one of the six largest in the world. The data will be anonymatized and used for pharmacogenomic research into adverse drug reactions. Researchers will have access to patients’ DNA and (also anonymatized) medical records.

A Vanderbilt official told The Tennesseean reporter Claudio Pinto: “[T]he databank will allow us to have an impact on nearly all diseases, from cancer to heart disease, to diabetes to treatment of infection. It’s hard to imagine a disease affecting individuals that this research won’t impact.” The university’s assistant vice chancellor of research, predicted that the database would make researchers’ work much easier and faster.

Setback for RNAi Therapy?

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A large number of mice died unexpectedly of liver poisoning in a test at Stanford University of RNAi (RNA interference) to cure mice of hepatitis B. RNAi is a way of interfering with genes to prevent them from working. The finding is disappointing and indeed alarming, since RNAi is already “starting to be tested in people” according to New York Times reporter Andrew Pollack. But, he adds, an RNAi expert at the University of Massachusetts said the Stanford scientists had used a variation of the technique that was “no longer state of the art” and required a very high dose. RNAi tests in people have used a different technique and lower doses, and even to the Stanford lead researcher the findings were “not a showstopper by any means” for RNAi.

In addition to the toxic high dosage, the gene therapy technique used by the Stanford team could have contributed to the problems with the mice. They inserted DNA rather than interfering RNA into cells, which may have overloaded the cells’ machinery. “These data really represent the fundamental limitations of gene therapy, not of RNAi,” John Maraganore, chief executive of Alnylam Pharmaceuticals, told Pollack, who adds that the company has already reported that it safely tested a nasal-spray RNA drug intended to treat a respiratory infection, on 65 healthy volunteers.