BRCA Gene Mutation Carriers Worry About Quality of Life

by Dr. Hsien-Hsien Lei
Posted September 16, 2007 in DNA Testing, DNA and Disease

Today’s Boston Globe features the personal story of Dr. Deborah Lindner, a medical resident who has tested positive for the BRCA1 gene mutation that significantly increases her risk of breast and ovarian cancer. Interestingly, one of the key points raised in the Globe’s cut of the original New York Times feature was how prophylactic mastectomy would negatively affect Dr. Lindner’s social life, chances of finding a life partner, and future experience as a mother.

She had wondered, unable to ask, how the man she had just started dating would feel about breasts that were surgically reconstructed, incapable of feeling his touch or nursing his children.

Now Joan Lindner [Dr. Lindner's mother] couldn’t shake the fear that her daughter might trade too much in her quest for a cancer-free future. What if taking such a radical step made it harder for Deborah to find someone special and become a mother herself?

Last month, Canadian researchers found that almost half of women who tested positive for the BRCA mutations took no preventive action while 20% had mastectomies. One of my first questions upon seeing the study was about the ages of the women who’d chosen not to undertake any preventive procedures. Could they be as young as Dr. Lindner who was only 33 years old?

As it turns out, the mean age at genetic testing in the Canadian study was about 47. At this age, most women would have already had children and possibly be less concerned about finding a partner. But, although the numbers are small, prophylactic mastectomy was not more common in older women.

This past week we saw the unveiling of a controversial general advertising campaign for the Myriad BRACAnalysis genetic test for breast and ovarian cancer susceptibility. One oft-quoted statistic in relation to the test states that “only 30,000 of more than 250,000 American women estimated to carry a mutation in BRCA1 or a related gene, BRCA2, have so far been tested.” Myriad hopes to increase the number of mutation carriers detected. But what kind of counseling and support will women receive if they test positive?

In the UK, statistics from 2005 showed that the wait time to receive genetic counseling for BRCA1 and BRCA2 testing can take as long as nine months with the time lag between testing and results being up to two years. I don’t know the US statistics offhand but I imagine one of the reasons customers choose direct-to-consumer genetic tests, such as the ones offered by Myriad and my company DNA Direct, must be so they don’t have to wait any more than they have to or want. Do we have the right to deny patients their right to timely medical attention?

To both of the questions I posed above, I say that patients such as ourselves have the right to prompt medical attention. We have the right to choose the health care we want. We have the right to demand that healthcare providers offer diagnostics and treatments in a timely fashion. No matter the type of health insurance, patients should have options.

Where patients and healthcare providers meet may or may not be direct-to-consumer genetic testing but don’t we owe it to ourselves to see if the direct-to-consumer model works? After all, we are no longer living in an age where the doctor reigns supreme. Today’s patients are knowledgeable with information at their fingertips. What we the patients need is support, expert guidance, and options. You don’t have to be sitting in a doctor’s office in a paper gown, backside bare to the breeze. Telemedicine has already shown there are other ways to give and receive medical care.

Update: Added link to original New York Times feature of Dr. Deborah Lindner which is a MUST-READ and the videos MUST-SEE as well. Go, Dr. Lindner!! Thank you for sharing your story with us. I love how Dr. Lindner said that getting the results of her BRCA genetic test was empowering and how relieved she is that she doesn’t have to constantly worry about developing breast cancer. Dr. Lindner plans to have her ovaries removed before age 40.

Tags: genetics, genes, dna, genetic testing, myriad, bracanalysis, brca, brca1, brca2, breast cancer, mastectomies, deborah lindner, healthcare, medicine, diseases, health care, health

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Comment by StevenMurphy MD

2007-09-17 15:47:34

I guess the NHS will argue..What exactly is a reasonable time frame for a “carrier” There IS that 15% chance she won’t get anything……..

-Steve
http://www.thegenesherpa.blogspot.com
p.s. We see patients in less than 1 month
http://www.helixhealth.org

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Comment by Hsien-Hsien Lei, PhD

2007-09-18 12:06:40

And an 85% chance she will…especially if you examine her family history.

You know you just opened yourself up to that counter-argument!

Let me know when you guys have your website up and running. I’d be happy to profile it!

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