genetic testing

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A court says that genes can’t be patented – and why that’s good news for women

Wednesday, March 31st, 2010

For many years, corporations have been filing patents to claim ownership of the genes that researchers have discovered. Nevermind that these genes exist in our bodies and were designed, not by scientists, but by nature. Once a corporation or other institution gets a gene patent, that gene becomes its property.

Those who control the genes get to decide whether to allow other researchers to use the gene in further research. The gene’s “owners” also get to corner the market in potentially life-saving tests involving the gene.

That’s led to some pretty significant price-gouging of women whose genetics put them at risk for certain breast and ovarian cancers. Myriad Genetics controls the patents for the genes that are associated with about 10 percent of breast and ovarian cancers. So if your doctor told you that you needed a test to see whether you carry a gene that makes you more susceptible to these cancers, you could get hit with a bill from Myriad for a whopping $3,000.

But that’s about to change.

This week, a federal court ruled, in a lawsuit against Myriad Genetics, that its gene patents were invalid because genes occur naturally. From an article about the court’s ruling that appeared in The New York Times:

Judge Sweet… said that many critics of gene patents considered the idea that isolating a gene made it patentable “a ‘lawyer’s trick’ that circumvents the prohibition on the direct patenting of the DNA in our bodies but which, in practice, reaches the same result.”

The case could have far-reaching implications. About 20 percent of human genes have been patented, and multibillion-dollar industries have been built atop the intellectual property rights that the patents grant.

“If a decision like this were upheld, it would have a pretty significant impact on the future of medicine,” said Kenneth Chahine, a visiting law professor at the University of Utah who filed an amicus brief on the side of Myriad. He said that medicine was becoming more personalized, with genetic tests used not only to diagnose diseases but to determine which medicine was best for which patient.

Mr. Chahine, who once ran a biotechnology company, said the decision could also make it harder for young companies to raise money from investors. “The industry is going to have to get more creative about how to retain exclusivity and attract capital in the face of potentially weaker patent protection,” he said.

I take issue with anyone who claims that denying patents on what nature creates will thwart research. And I am in total agreement with the court’s decision to invalidate these patents on genes. Patenting genes invites a type of commercial perversion of what is a natural occurrence. As a researcher myself, I disagree that invalidating gene patents removes incentives for future research. There will always be research. However, the results of that research will have checks and balances rather than the current focus on the “bottom line” of profit, that takes advantage of patients and the medical community.

– Yvonne S. Thornton, MD, MPH

CVS: a first trimester alternative to amniocentesis

Tuesday, August 25th, 2009

Amniocentesis (amnio) is a test that identifies the presence of a chromosomal or genetic defect in the growing fetus, such as Down Syndrome or Tay-Sachs disease.

But amniocentesis can’t be done until a woman is between 16 and 20 weeks pregnant. If a serious problem is found, and the patient chooses not to continue with the pregnancy, then it is a more involved procedure than during the first trimester. And it can be more heart wrenching to have to make such a decision after investing so much hope in a pregnancy that has progressed to 18 or 20 weeks.

What many prospective parents don’t realize is that there is an alternative to amniocentesis that can be done during the first trimester, as early as 10 weeks. It’s called chorionic villus sampling (CVS). It’s about as safe as amniocentesis. Either procedure (CVS or amnio) has a fetal loss rate (miscarriage) of less than 1%. And, in most cases, CVS can be as good a choice or better.

As one of the investigators for FDA trials of the procedure in the mid-1980s, I was among the first physicians in the U.S. to gain significant experience in chorionic villus sampling.

If you are older than 35 and your ob-gyn has recommended prenatal genetic testing but hasn’t offered this alternative to you, it may be because fewer physicians are trained in CVS than in amnio.

But you and your pregnancy should not be penalized just because your physician does not perform CVS.

If you’d prefer to have chorionic villus sampling, check with one of the major academic medical centers in your area where CVS is more likely to be performed regularly. And be sure to have it done by a physician who has over 100 procedures under his or her belt, because the procedure has a steep learning curve. The miscarriage rate is directly related to the experience of the person performing CVS.

The advantage with CVS is that you will know the results of the test within a week, while you are still in your first trimester.

– Yvonne Thornton, MD, MPH