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Genetic screening: Can we handle the truth?

If genetic testing were to reveal that you were at increased risk of breast cancer or Alzheimer's disease, how would you cope with that knowledge?

Two news items appearing in my inbox recently made me think hard about the value of blood tests for scary diseases. The University of Michigan Comprehensive Cancer Center, responding to direct-to-consumer ads for tests to detect the BRCA1 and BRCA2 genes that predispose certain women to breast cancer, notes that women who get positive results likely need counseling to take the news in stride.

And the L.A. Times reports that last year's study that showed that people who learned they had a gene linked to Alzheimer's handled the news well has been criticized lately for the way the study was designed.

To me, the two scenarios are different. If a woman learns she's at heightened risk of breast cancer, there are some measures she can take -- lifestyle changes and increased surveillance -- to perhaps alter her fate. But we don't yet know much about how to ward off Alzheimer's disease. Frankly, if Alzheimer's is in my future, I'd just as soon not know about it yet.

How about you? Have you undergone or considered genetic screening for a disease that runs in your family? How did you prepare yourself to cope with what you learned?

By Jennifer LaRue Huget  |  January 18, 2010; 7:00 AM ET
Categories:  Alzheimers/Dementia , Cancer , Prevention  
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The breast cancer testing is a money grab. The odds of having abnormal genes are very low. Although many women with breast cancer have a familial history the chances of their having this particular mutation are low.

Since some of these genes are associated with ovarian cancer if you fall into the mentioned ethnic groups it might be worth having the test. Otherwise I think you could save your money.

From -

A more recent study (Journal of the American Medical Association, December 26, 2007) of more than 3,000 women diagnosed with breast cancer looked at the risk of abnormal BRCA1 genes in different ethnicities. The results showed:

* 8.3% of Ashkenazi Jewish women had an abnormal BRCA1 gene.
* 3.5% of Hispanic women had an abnormal BRCA1 gene.
* 16.7% of African American women younger than age 35 who had been diagnosed with breast cancer had an abnormal BRCA1 gene.
* 2.2% of white women who were not Ashkenazi Jews had an abnormal BRCA1 gene.

This means that Hispanic women are more likely to have an abnormal BRCA1 gene than white women who are not Ashkenazi Jews and that younger African American women diagnosed with breast cancer are twice as likely to have an abnormal BRCA1 gene than Ashkenazi Jewish women.

Posted by: RedBird27 | January 18, 2010 7:29 AM | Report abuse

If you knew you were at increased risk for Alzheimer's, you could still prepare to make things easier on your loved ones: making the move early to an assisted living home with an attached Alzheimer's unit, making financial preparations, designating care-takers, etc.

A bigger question might be: who else do you want to know about your genetic test results? My family has polycystic kidney disease running through it, and it can now be diagnosed before symptoms show up, using genetic tests. Some might choose to determine if they have the gene (as symptoms can show up as late as age 60) both to take steps to mitigate it and to consider whether they want to risk passing it on to kids. Others might be justifiably concerned that they will have difficulty getting health insurance. The same issues need to be considered for breast cancer and Alzheimer's.

Posted by: drmary | January 18, 2010 9:04 AM | Report abuse

It is understandable that one might not want to know their life will possibly end with them having an incurable disease with which they may linger in pain and degradation for years. However, being genetically screened may not be volitional for long. The inescapable fact is that there are those who want to know the odds of you being hobbled by disease or you having a high risk of early death. For one, insurance companies will want this information. A person's cost for automobile insurance is based on largely based on their driving record, i.e., the probability that they will be involved in an accident. Why shouldn't health and life insurance costs be based on the probability of dying early or having to have specialized care? Actually, rates are based on this, but the odds are calculated on an individual’s personal and family health history. Can we not expect genetic profiles will be used also? Welcome to the brave new world.

Posted by: csintala79 | January 18, 2010 9:10 AM | Report abuse

As long as insurance companies are the main route to health care in the US I will never have genetic testing done under my own name. Ever. My doctor is nothing but an informational conduit to my insurance company at this point. And my insurance company is nothing but a greedy entity looking to make as money as possible off any illness I may develop.

Posted by: quacker | January 18, 2010 11:42 AM | Report abuse

At the risk of offending the author, it should be noted that "not wanting to know if one is genetically predisposed to Alzheimer's disease" is not a very defensible position once inspected under an educated light.

First, having certain genetic variants (APOe4 or TOM40) may increase risk of one day developing Alzheimer's disease while having a certain others (CTEP) may decrease it. However, no combination of these genes approaches a certainty of fate, they merely suggest probabilities. To imply that learning a bit about one's genetics is akin to knowing the future is to overstate our current understanding of genetics and Alzheimer's disease.

Second, like the author suggested with regards to breast cancer, there is plenty one can do to reduce risks for Alzheimer's (more so than one can do to reduce the risks for breast cancer). For example, there is solid scientific evidence that we should all maintaining good cardio-vascular health (lower LDL's, obesity and BP), enjoy a brain healthy diet (green leafy vegetables, berries, fish with Omega-3's, and fewer fats), remain intellectually and physically active, and stay socially engaged. A few other well supported life-style decisions would be to protect the head against the potential of injury and to stop smoking and excessive drinking. All good advice but perhaps more compelling if one knows they have a high genetic risk for a dementing disorder such as Alzheimer's.

Second, because early stage Alzheimer's has symptoms that look exactly like normal, age-related cognitive decline, it often goes undiagnosed and untreated during its earliest and most treatable stages. If one knows there is an increased genetic risk for the disease, it is more likely that early symptoms will be more vigilantly investigated and medical intervention might occur in a more timely and efficacious manner.

Finally, as other commenters have noted, the problem should be considered in a context broad enough to include more than just the patient. Many other lives are often affected and proper planning can be beneficial to all.

The problem of Alzheimer's disease is greatly exacerbated by late detection; a phenomenon that is perpetrated by the antiquated "better not to know" dogma. That may have been true 20 years ago but we need to embrace a higher level of understanding. Journalists who continue to promote that idea are on the wrong side of the solution.

Posted by: dennisfortier | January 18, 2010 1:15 PM | Report abuse

No offense taken, dennisfortier! You and the other commenters all make excellent points! Thanks for taking time to write.

Posted by: Jennifer LaRue Huget | January 18, 2010 1:30 PM | Report abuse

Here's a novel idea. Pass a law to allow screening, but as soon as an insurance company gets access to the information, they are forced to fully cover the person forever. How's that for sticking it to the greedy insurers?

Posted by: adrienne_najjar | January 18, 2010 1:47 PM | Report abuse

One of the questions originally posed was: "Have you undergone or considered genetic screening for a disease that runs in your family?"

I have considered getting tested for my family kidney disease - we discovered it after I had 3 children, so knowing whether I carry the dominant gene for the disease would not change my child-bearing choices. I only know the odds right now - my father's mother carried it and passed it on to my aunt and uncle. However, my father died from unrelated brain cancer before we knew about the disease, so we don't know if he carried it.

Currently my odds are 1/4 that I carry the gene. Do I spend $2000 finding out? No - not only do I not want insurance companies finding out about this, but knowing really would not help, as I have already either passed it on to my children or not.

As with many genetic diseases, the steps I take to mitigate the possible disease are ones everyone should take - I limit my alcohol intake, keep my weight down and exercise. I watch my blood pressure and my doctor knows what to watch for (although he did not put it in my charts as such). I will know for sure in less than 30 years, when I either get symptoms or don't.

I would love to know now, just for peace of mind, but knowing would not help, and not knowing is possibly encouraging me to be healthier anyway. Knowing would also mean that my insurance company might know - for now, I can wait.

Perhaps the flip question would be: if you know you don't carry certain disease-related genes, would you eat more red meat, drink more alcohol, exercise less, smoke more, not plan for the future, etc.? Do these tests also convey a false sense of security?

Posted by: drmary | January 18, 2010 5:29 PM | Report abuse

I'm a 2-time bc survivor and thriver - and have been totally revived by a dvd i just found made for women with breast cancer called 'The Path of Wellness And Healing.' It's like an encyclopedia for breast cancer but it's also moving, inspiring, the whole nine. Every doctor from deepak Chopra to Dean Ornish is on it and every celeb bc survivor from Sheryl Crow to Melissa Ethridge. So awesome!!!

Posted by: cindyInLA | January 19, 2010 4:24 PM | Report abuse

My own family has suffered from cancer, Alzheimer’s, blood clots, and a number of other diseases. I understand that some people would rather not know if they have inherited the genes of their ancestors. I respect that, but don’t feel the same way. I have always been the kind of person who wanted and needed to know the truth. So, as soon as I can, I will get tested. I n my mind, it is much worse to live in uncertainty.

Posted by: lah9999 | January 20, 2010 12:40 PM | Report abuse

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