What happens after a positive breast and ovarian cancer (BRCA) genetic test?

by Dr. Hsien-Hsien Lei
Posted August 15, 2007 in DNA Testing, DNA and Disease

When I think of people who’ve made the decision to take a medical genetic test, I assume they’re the type to go all the way for disease prevention and treatment. That if they test positive, they would do all they can to prevent the disease from occurring. Apparently, I made a false assumption.

In Canada, researchers recently studied women who tested positive for either the BRCA1 or BRCA2 gene mutations associated with an increase in risk of breast and ovarian cancer. They found that a significant number of women took no preventive action after receiving a positive result. They did not choose to have their breasts or ovaries removed, change their birth control methods, try tamoxifen or raloxifen, or even be more vigilant with MRI or mammography screening.

• Of the 342 women with the BRCA mutations who were breast cancer-free four years after taking the genetic test, 21% had undergone mastectomies.
• 46% of this same group had taken no preventive action.
• More women from Quebec chose not to pursue preventive action - 62% compared to 39% in Ontario, 34% in Western Canada.

Kelly Metcalfe, a professor in the faculty of nursing at the University of Toronto:

We don’t know why it is. It could be that they don’t have access. It could be that they’re not being followed after they’re given their results so they go home with their results and that’s the end of it. It could be something cultural. We don’t know what it is yet.

In an interview with the Hereditary Breast and Ovarian Cancer Society of Alberta, Marie talks about what it was like to have hereditary breast cancer in the family and what happened after she received a positive BRCA test (pdf).

Marie: The months after I got my positive test result were difficult. I went to surgeons and plastic surgeons to hear what they had to say. My sister and I accompanied each other to our various appointments and both decided to proceed with prophylactic mastectomies with reconstruction. We did not feel it was too drastic a measure. The doctors that we met with were compassionate and supportive of our decision, which really helped. I was terrified of the lengthy surgery and the significant trauma to my body but now, a year and a half later, I am very pleased with the results. The support of my husband, kids, family and friends helped me get through the physical and emotional hardships of the surgery.

Last month, I focused on perceptions of genetic testing but I primarily discussed the process leading up to testing and neglected how people felt afterwards whether they tested positive or negative.

If you’ve taken a genetic test for hereditary breast and ovarian cancer, how did you feel after you received your results? (Please feel free leave an anonymous comment.)

Note: I currently work for DNA Direct which offers direct-to-consumer genetic testing for breast cancer.

Photo: Breast cancer cells from Wellcome Images under Creative Commons

Tags: breast cancer, brca, brca 1, brca 2, cancer, genetic testing, genetics, genes, dna

RSS feed | Trackback URI

Please note that comments left using the form below will be publicly displayed. If you'd like to correspond with me privately, please email me at hsien@eyeondna.com.

If your comment doesn't show up immediately, it's probably in moderation. I will approve it as soon as I can! Thanks for your patience.

8 Comments »

Comment by NA

2007-08-15 21:45:17

People generally will not change their life habits even with a positive test for any type of disorder. This is why follow ups are very important. One needs to keep a communication line active after the test result was given out and the patient goes home. Just sending a letter in the mail to give an overview of what was discussed does not do enough.

Reply to this comment

Comment by Hsien

2007-08-16 15:57:29

I agree that follow-up letters don’t mean squat. I’ve been getting reminders from my physician for the last few months to do certain wellness check-ups and must confess I still haven’t gotten around to it…. However, I don’t believe myself to be in a high risk group.

Reply to this comment

 

 

Comment by ramunas

2007-08-15 22:17:53

sure, summary letter after consultation is very important step of genetic counseling.
These date are not very surprising. Obviously, results differs between countries, but the tendency is 50:50. I thin this is because of human psychology. Elizabeth Kubler-Ross has done nice work, showing us the process by which people deal with grief and tragedy - positive BRCA test could be this. Denial, Anger, Bargaining, Depression, Acceptance are universal stages. Understanding, proper education and support are essential, imho. In a non-directive manier, obviously.

Reply to this comment

Comment by Hsien

2007-08-16 15:59:03

I think a strong support network is critical for everyone facing a critical health decision. In the interview, support and nudging from family members factored a lot into all of their decisions to get tested and to seek preventive action.

Reply to this comment

 

 

Pingback by » This week in health and science - 8/18/07 - Women's Health Research News blog from IdeasForWomen.com

2007-08-18 19:53:58

[...] at Eye on DNA wrote this week about “What happens after a positive breast and ovarian cancer (BRCA) genetic test?“. Most people apparently don’t change anything in their [...]

Reply to this comment

 

Pingback by Eye on DNA Headlines for 26 August 2007

2007-08-26 18:55:34

[...] is in line with an earlier Canadian study which showed that more women than might be expected do not seek preventive action after testing positive for BRCA1 or [...]

Reply to this comment

 

Pingback by BRCA Genetic Mutation Carriers Worry About Quality of Life

2007-09-16 19:00:50

[...] 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 [...]

Reply to this comment

 

Comment by Yasmin

2008-03-26 04:13:12

I just received my “Postive” result from gene testing (Breast cancer). I have been in the military over 24 yrs and I have to say, I have been in some pretty frightening situations; but, now..I’m terrified.

I, already, had 2 bioposies scheduled for this Friday and this news…well, shook this soldier up down to the core.

I am lost, confused and upset; which of course, I believe are general emotions to experience at this time. I’ve lost several family members, including mother to breast cancer. Yet, this new gene testing is a blessing.

Reply to this comment