by Dr. Hsien-Hsien Lei
Posted July 12, 2007 in DNA Testing, DNA and Disease
Is 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 Direct.com* 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 cancerâ€“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.
What happens after a positive breast and ovarian cancer (BRCA) genetic test?...
Yay or Nay for Genetic Testing?...
Commercials for Myriad BRACAnalysis Genetic Test Under Scrutiny...
Types of Genetic Tests...
Consumer Genetics Show 2009 in Boston...
DNA Video: Sequenom Prenatal Genetic Testing...
Let’s Talk About Direct-To-Consumer Genetic Testing...
Sorry, the comment form is closed at this time.
Search Eye on DNA
- Genetic Genealogy on Faces of America
- DNA Network Tweet Cloud
- Genetics = Real Science
- Larry David’s DNA Test
- Lopez Tonight First Late-Night Show to Offer DNA Testing
- American Genes Don’t Exist
- Knowledge about Genetic Risk is Power or is it Fear?
- Murderer Gets Reduced Sentence Because His Genes Made Him Do It
- Video: Knome’s Ari Kiirikki Speaks with Medgadget
- DNA Toys: Ben 10 and Digimon Digivice
- 100 Facts About DNA
- Salaries for Jobs in Genetics
- Fetal Gender DNA Tests Answer Common Pregnancy Question...Or Not
- What does DNA mean to you?
- Eye on DNA Interview: Dr. Tzung-Fu Hsieh of RedTracer DNA Test for the Red Hair Gene, MC1R
- How To Determine Paternity Without A DNA Test
- Books About DNA: The Crime of Reason by Robert B. Laughlin
- Genetically Modified Organisms Bring in the Cash
- Navigenics Introduces Physician Portal and Annual Insight Service
- People Who’ve Had Their Genomes Sequenced
09/29/2009 07:03 am
- Larry David’s DNA Test
11/17/2009 02:52 am
- 23andMe DNA Tests for $399, Down From $999
09/10/2008 04:33 am
- Crazy Genetic Marketing Ideas
07/05/2008 09:14 pm
- Parenting Children Using Genetic Tests
05/18/2009 02:09 am
- Business of DNA
- DNA @ Google Answers
- DNA and Disease
- DNA and Genealogy
- DNA and the Law
- DNA Around the World
- DNA Fun
- DNA in General
- DNA Inventions and Gadgets
- DNA Lab Talk
- DNA Podcasts and Videos
- DNA Quotes and Excerpts
- DNA Testing
- Gene Therapy
- Genetic Engineering
- Genetically Modified Foods and Organisms
- Jobs Involving DNA
- Personalities with DNA
- Polls About DNA
- January 2010
- November 2009
- October 2009
- September 2009
- August 2009
- July 2009
- June 2009
- March 2009
- February 2009
- January 2009
- December 2008
- November 2008
- October 2008
- September 2008
- August 2008
- July 2008
- June 2008
- May 2008
- April 2008
- March 2008
- February 2008
- January 2008
- December 2007
- November 2007
- October 2007
- September 2007
- August 2007
- July 2007
- June 2007
- May 2007
- April 2007
- Eating Fabulous
- The Biotech Weblog
- World Science
- MRSA Notes
- Ideas for Women
- Yann Klimentidis’ Weblog
- The Haversian Canal
- The Personal Genome