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Doctor Blog--"Genetic Profiling"

Posted Jul 07 2008 7:12pm

I recently had a conversation with a woman in her mid 30's who has

been diagnosed with breast cancer.  She was unaware of any family

history until her diagnosis when a long lost relative revealed that

two aunts had been diagnosed with breast cancer in their 50's in

the past.

The discussion was in a social setting so she was sharing from her

sense of life view at this point in her experience.

The subject of genetic testing came up.  She has a very young daughter

who now is at greatly increased risk of contracting breast cancer herself.

The question that is pressing my friend is whether or not she should have

genetic testing herself and whether she should have her daughter tested

as well.

Her concerns are real.  What if the little girl has positive genetic markers?

What would an insurance company who is looking at increased revenue

for publicly traded investments going to view her child's positive genetic

marker?  Will there be a "pre-existing condition" exclusion whereby the

little girl may be excluded from health or life insurance with such a

marker on her record?  What is the price of genetic testing?  Does a

doctor have to order the test or can a lay person ask for the test if

they are paying out of pocket?

Well,The New England Journal of Medicinefrom June 26, 2008 has an

article which addresses "genetic profiling".  The article is entitled:

Polygenes, Risk Prediction, and Targeted Prevention of Breast Cancer.

The authors look at the potential use ofgenetic markers to "profile"

women at risk for breast cancer and thus create a personalized

screening program.  The idea is a good one in theory: figure out

who has the gene that increases risk of disease and then be more

aggressive in screening the person at higher risk for the disease--

the earlier the diagnosis the better the chance for cure.

The article is based on the theoretical application in the United Kingdom

which has a National Health Service Program to set guidelines for

disease prevention and treatment that are used for clinical decision

making.  The authors acknowledge the chasm between the theory and

the application even in a system like the one in the UK.

The question would be how would something like this apply in the

United States where, at present, there is a for profit health care system

for working Americans?  That is, what is the incentive for an insurance

company to provide coverage to a woman who tests positive for a

gene which significantly raises her risk of breast cancer compared to

her peers?  What is to prevent insurance companies from using genetic

profiling to deny claims related to markers as"pre-existing conditions"?

For profit, publicly traded health insurance companies appear to have a

primary interest in profits for investors, many times at the expense of the

patient.  It seems that genetic testing would make it easier for insurance to

"screen out"of their plans individuals with negative genetic profiles in the

pursuit of profiteering. 

In fact, my friend is so fearful of the implications to her daughter's future

healthcare coverage that she does not even want to mention it to her

physician or her daughter's physician for fear that ANY mention in the

record of a discussion about genetic testing would be picked up and used

to "profile" her daughter's health risk.

How sad that a working woman who becomes ill in the United States has

so little confidence in health insurance companies and, in addition to her

illness, has to deal with the fear of medical insurance being withheld from 

her daughter as a result of her own illness or genetic link to her child.

Meanwhile, the CEO's of many for-profit medical insurance companies earn

millions in salaries and millions more in stock options or profit sharing.

Let me know what you think of this issue...........

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