Genetic Mutations

We hear it all the time.  We should all have our teeth cleaned and examined a couple times a year.  Colonoscopies are recommended to catch any cancers early.  Women should get regular mammograms after the age of 40. 

I try to follow the suggested medical guidelines, which led me to my annual mammogram last year.  When my doctor discovered a “spot” that did not appear on earlier mammograms, he ordered a biopsy.  The test was benign, and I was relieved.  My grandmother and an aunt died of breast cancer, so I have reason to adhere to the regular checkups. 

I saw my doctor again this week and received a good report on my latest mammogram.  He pointed out that I have two more “spots” that he will be watching, but for now, no biopsy is necessary.  He then proceeded to ask me about my ancestry.  When I responded that I am of Eastern European descent, he asked whether the family was of Ashkenazi Jewish descent, to which I responded “yes.”

He went on to explain that those of Ashkenazi Jewish descent had a higher incidence of breast and ovarian cancer than the general population.  He suggested that I have BracAnalysis Testing for the mutated gene that is sometimes inherited by those in this group, both women and men.

Those who test positive for the mutated gene have an 88% chance of getting breast and/or ovarian cancer at some time in their lives.  So knowing whether I carry that gene will determine my current and future treatment.  For instance, he said if I test positive, he would perform a biopsy on those two suspicious abnormalities that appeared on my most recent mammogram.

I had never heard of this type of testing, nor did I realize that Ashkenazi Jews had a greater risk of breast and ovarian cancer.  This made me wonder what other diseases or disorders were common in certain ethnic or racial groups.

A brief Internet search informed me that Tay-Sachs disease is also more likely to occur among people of Ashkenazi (eastern and central European) Jewish descent and those of French Canadian ancestry. 

Sickle cell anemia is another genetic condition that is more common in particular groups, people of African, African-American or Mediterranean heritage.  I knew more African-Americans had sickle cell anemia, but I did not know that people of Mediterranean heritage also are more likely to develop the condition.

About one in 2500 Europeans develop cystic fibrosis, but only in one in 90,000 Asians do. I had no idea that disease was more common in a certain group than others.

Common diseases and conditions not connected to gene mutation also vary in frequency among certain populations.  Although millions suffer from hypertension, it occurs more frequently in African-Americans than European-Americans; and type 2 diabetes is especially common in Hispanic and Native-American populations.

I imagine further research would reveal far more medical conditions affecting one group more than others.  My lack of time to perform the research outweighs my curiosity to know about them.  I did, however, find it interesting to learn about the BracAnalysis Testing and about how various groups are more prone to specific health issues than others.

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To learn more about Julie Klein and Xpress Healthcare, visit http://joinxpresshealthcare.com.