Perceptions of Genetic Testing

Perceptions of Genetic Testing

by Dr. Hsien-Hsien Lei
Posted July 12, 2007 in DNA Testing, DNA and Disease

breast cancer rhinestone broochIs medical genetic testing worth the ordeal if there is no cure or 100% effective prevention? From what I’ve observed in discussions online, these are some general attitudes towards genetic testing along with my responses in italics in the context of breast cancer:

  • Why take a genetic test if there’s nothing you can do: no prevention, no cure, nothing but waiting for fate to make its move.

    People who have a family history of breast cancer or test positive for a BRCA mutation can still choose to live a healthier lifestyle (quit smoking!), undergo surgical interventions (mastectomy or oophorectomy), go in for more vigilant screening, and make better decisions about treatments if they are ever diagnosed.

  • The test is worthless because it doesn’t mean that you will definitely develop the disease if you carry the gene variant.

    Few things in life are 100%. It’s important to assess how much a gene mutation increases the risk of a particular disease compared to your risk without the gene mutation. Then you must weigh that against what you personally find acceptable. Carriers of the BRCA1 and BRCA2 mutations have a 3 to 7 times higher risk of developing breast cancer than people who do not have the mutation. Should these statistics be cause for concern when we are susceptible to a whole slew of other diseases and negative life events simply by being alive? I say yes but others might say no.

  • A negative test result is still no guarantee you won’t get the disease later.

    Yes, and a positive test result is also no guarantee you will get the disease. But it might spur you on to live a healthier life, make better healthcare decisions, stop putting off writing that will, and make other preparations just in case any other calamities befall us in our short lives.

  • Regular screening for cancer and heart disease, for example, is more than enough.

    While regular screening is always good. The current recommendation for breast cancer early detection is for women 40 and over to be screened every year. However, those at a higher risk of breast cancer should be screened more carefully and thoroughly, perhaps including an MRI.

  • Having a positive result will only increase your anxiety and cause you to live every day in fear.

    This really depends on the individual. Some are glad to have more information while others are not. Don’t let other less-informed people tell you what you should do. Make your own decisions based on careful thought and research. This list of Pros & Cons of Testing @ DNA* may help.

Please don’t get me wrong. BRCA genetic testing is no panacea. An Israeli restrospective study published today in the New England Journal of Medicine found that “breast cancer–specific rates of death among Israeli women are similar for carriers of a BRCA founder mutation and noncarriers.” In other words, BRCA mutations may not affect a breast cancer patient’s prognosis. (Medical News Today)

But I’m not taking the study at face value. I’m wondering: How does breast cancer care in Israel differ from the US? Is BRCA testing routine? If so, what are the options offered to women who test positive? How many of these women knew of their carrier status and used the information to make healthcare decisions either prior to being diagnosed or after?

Just as I’ve done here, when deciding whether genetic testing is right for you, do your research and ask questions. Look at everything critically and make the choice that’s right for you and not for anyone else, even if they are family members.

*I am a consultant for DNA Direct.

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Comment by Sara

Thanks for this refreshingly logical perspective, Hsien. I saw something on Google news this morning about this and it struck me as rather emotional and invalid framing. Why does something have to be a panacea to be valid? It all shows such a lack of intellectual nuance and maturity. Let’s not toss the baby out with the bathwater.

Comment by Hsien

I hope the results of this Israeli study don’t cause a panic. People who are considering BRCA genetic testing are already under a lot of stress and something like this may lead them to think testing has no value.

Comment by jhay

Tests are not bad. They help individuals and families prepare for what’s to come. There may be no cure today, but the knowledge gathered from tests all add up to the resources future scientists could work on to create cures or remedies.

We may not have benefited today, but our sons and daughters will.

Comment by Hsien

jhay, I like your optimistic attitude! Thanks also for the link from your blog. :)


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[...] DNA Direct, which provides clinical genetic testing online. She posts some thoughtful comments on perceptions of DNA testing in the context of breast cancer; “[i]s medical genetic testing worth the ordeal if there is [...]

Comment by NA

I’m doing a research project for gaining an understanding of the thoughts and opinions about genetic testing among college age adults in the United States. From the data that I collected from the college I attend, a lot of the respondents showed interest in getting a genetic test done if the test is warranted, but the majority feels they don’t know what they can do with whatever type of result they get. Genetic testing is a new thing to society (among the whole population). There was one respondent that answered one of the questions saying all genetic testing is a risk calculation…and this student was a senior nursing student.

Because of this data, I’m in the process of developing a research project where I can what the patient plans on doing with a negative test and a positive test before genetic counseling is done and then assess what the patient does once counseling has been done. I’m also doing this on a population basis where we can gain an understanding of what a person would do with a negative and positive test done if they were to have a genetic test done.

Comment by Hsien

Sounds like a fascinating study, NA. Please keep us posted! And if you’d like to write a guest post here at Eye on DNA about your study, please email me;.

Comment by NA

Edit: Because of this data, I’m in the process of developing a research project where we can see what the patient plans on doing with a…………

Comment by David Bradley

A friend of mine is pregnant. The medics spotted something odd in the ultrasound that was indicative of cystic fibrosis. She and her partner got very scared. Genetic tests were done on both of them, neither are carriers. They were both very relieved. Next scan, soft marker for CF had gone.

Without the genetic testing they would have spent several weeks worrying.


Comment by Hsien

That is a great example! If only it could be so clear-cut for complex diseases like cancer and heart disease.

Comment by David Bradley

Well, yes, I guess that’s a major issue, but hopefully genetic testing in the near-future will become something that is just as applicable to those disease with multiple genes or ambiguous genetic indicators


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[...] can read valuable comments and opinions which are unlikely to be published in a scientific paper. Hsien-Hsien Lei greatly answers common questions about genetic [...]


[...] month, I focused on perceptions of genetic testing but I primarily discussed the process leading up to testing and neglected how people felt [...]


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