Tag Archives: breast cancer screening

Genomic Sequencing: Where Science and Law Collide

Have law and policy ever been able to keep up with scientific discovery and innovation?  When some hominid first discovered how to ignite a fire, there was probably a lawyer on hand to extinguish it because it infringed on an ingenious technique for using a couple of sticks to make smoke.

Microarray (gene chip), image courtesy of NHGRI

Eons later, we haven’t made much progress in keeping our legal system in pace with the exponential advances of science and technology.  Even as our courts are addressing the vexing question of whether specific genes — and the analysis of those genes — can be patented, the ability to commercially sequence an individual’s whole genome is rapidly advancing.

I had a chance to talk with Dr. Lynn Jorde, who is president-elect of the American Society of Human Genetics, at the society’s annual meeting.  He pointed out to me that Myriad Genetics‘ patent of BRCA1/2 genes prevents all uses of the information that the genes contain. Essentially, if a a physician or geneticist has knowledge of a BRCA mutation that puts a patient at increased risk of breast and ovarian cancer, he or she can not disclose this information under the patent.

If the Myriad test is the only way to determine the presence of such mutations — forgetting the issue of second opinions — maybe it’s not such a big deal.  Suppose, however, that the patient’s whole genome has been sequenced … from which one could “see” the presence of the mutations.  Under the law, a physician can’t make a diagnosis, tell the patient or start the patient on treatment.  As ASHG wrote in its amicus brief in the Myriad case:

By staking claims on all isolated versions of the BRCA1 and BRCA2 genes, Myriad effectively controls all of the naturally occurring BRCA1 and BRCA2 breast cancer genes from everyone‘s bodies. No woman (or man) can give her (or his) own breast cancer gene to a doctor or researcher to analyze for purposes of diagnosis or research, because once that gene is removed from the body Myriad‘s patent claims cover it. No clinician or scientist can perform diagnosis or research using such gene sequences or the information they contain without violating the patents.

Yet every physician essentially takes an oath to treat disease and illness … not to mention sharing medical research.  Talk about caught between a rock and a hard place.

Of course, personal genomic sequencing is still a ways off for most people, Ozzy Osbourne notwithstanding. For now, Myriad’s patents for BRCA1/2 are invalidated but that court decision is under appeal.  At the end of October, the New York Times reported that the U.S. Department of Justice has weighed in on the decision by filing an amicus brief that essentially supports the idea that genes are not patentable. Only time will tell how things will shake out in this case … or what it will mean for many other gene patents on file at the USPTO.

Ironically, Dr. Jorde — who got me thinking about all of this — works for the University of Utah, Salt Lake City, a joint plaintiff with Myriad, in the case.

Kerri Wachter

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Filed under Family Medicine, Genomic medicine, Health Policy, IMNG, Internal Medicine, Obstetrics and Gynecology, Oncology

New Mammogram Recommendations Miss the Real Fear

Image courtesy of NIH

My 40th birthday comes in less than a month and, right on schedule, my ob.gyn handed me the paperwork last week to get my first screening mammogram.  Yesterday, the U.S. Preventive Services Task Force issued new recommendations that will now have women younger than 50 years skipping screening mammograms completely.  Will I still be getting my screening mammogram? You bet, I’ll get it done before the year is out–so that my insurance company will still pay for it.

Why?  Because cancer is a truly terrifying word for most of us.  Yes, it’s an irrational fear that I might develop breast cancer before age 50.  Given my family history, it’s far more likely that I will develop heart disease. Still, like many women, I’m far more scared of developing breast cancer and the fact that it’s an irrational fear doesn’t make it any less real to me.

In the new recommendations, the USPSTF says that the small chance of detecting breast cancer on a screening mammogram in women younger than 50 years is outweighed by “the psychological harms, unnecessary imaging tests and biopsies in women without cancer, and inconvenience due to false-positive screening results.” 

I think the task force misses the real fear for most women. I went through a series of imaging tests and consultations last year for what turned out to be benign thickening of tissue. It was a harrowing experience and several months of nonstop anxiety and I’d gladly go through it all over again to know that another mass was benign or to catch a tumor early.  The real fear is not detecting breast cancer early, even if  the risk of developing the disease is statistically very small.

So, I’ll get that screening mammogram this year but what about next year and the year after that?  Will my insurance company stop covering screening mammograms for women younger than 50 and will I end up having to spend my own money to feel reassured?

—Kerri Wachter, @knwachter on Twitter

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Filed under Health Policy, Obstetrics and Gynecology, Oncology, Primary care, Radiology