Genetic Testing

Genetic testing is a controversial issue in the 21st century.  The question that many of us are asking is “Should I get tested for a genetic disease?”  The answer is not a simple one.  There are several factors to consider before making the decision to get tested for a gene.

The ability to determine who is and who is not at risk for disease before the onset of symptoms is becoming essential for patients and their families.  By being tested, individuals who carry a mutant gene can often perform simple preventative measures and reduce the mortality rate of that specific gene.  This will also allow the individual to plan carefully for his/her future.

Though it is important to know which of us is a carrier for a specific gene, it is also important to know those who are found to be free of the mutant gene.  These people can be spared unnecessary medical procedures and anxiety, and can also plan for their futures.

Genetic testing, however, is not without its problems.  Social issues, such as insurance, cost, employment discrimination, and privacy, have gained much attention.  Other ethical concerns occur concerning, for example, prenatal testing for diseases with late onset or minimal effects (Yan).

The high cost of genetic testing is also a formidable concern for most patients considering screening.  Many insurance companies will not cover the cost of the tests, so the burden is left on the patient.  Dr. John Phillips is convinced that the high cost is related to the CLIA laws.  CLIA laws are patent and laboratory certification laws that must be met before the results can be released to the patient.  Dr. Phillips says, “The cost of bringing the lab up to CLIA standards is passed onto the consumer (Laino).”

Another reason for the extremely high cost of genetic screenings is patenting.  “Patents are also driving up the cost of testing,” Phillips said.  “Companies are racing to enter the gene hunt in hopes they will be the first ones to develop the test for a common defect – and reap huge royalties as a result.  And as long as genetic test [sic] is on patent, there is no competition to drive the cost down (Laino).”

A recent survey conducted indicates that cost and patenting are a large restraint to testing.  Those polled said that they would not take a cystic fibrosis test if the cost was higher than $25.  The cost for a cystic fibrosis test is already $150, and the cost of licensing a patented test will add about 30% more (Laino).
Privacy is a significant concern for many people, also.  Many of those individuals considering being tested are worried about their insurance companies finding out the results of the tests.  These people are worried that the premiums will rise or their coverage could be altered.  Others fear their employer finding out and denying them a promotion.

The technical challenges that come with genetic testing can be just as complicated and are sometimes overlooked.  For example, in many diseases, not all of the genes capable of causing or contributing to the appearance of the disease are known by researchers, and even when the mutated gene is known, genetic testing may fail to identify mutations in 25% to 75% of the tests (Yan).

A concern shared by many people is the lack of treatment options.  Often people do not want to know if they possess a mutant gene, because they know that no treatment is available for the condition.

Overall, I think the advantages of genetic testing outweigh the disadvantages.  I think it is beneficial to know if you carry the gene for a disease like breast cancer.  Carrying the gene does not necessarily mean that you will develop breast cancer, but if I knew I had the gene I would be very careful with self breast exams, regular mammograms, and other preventative behaviors.  Also, I think that knowing about the presence of a gene would help to make decisions about life.  For example, it might help me make a decision about whether to have kids or not.

Genetic testing is a good thing.  Not only is it beneficial to carefully plan the rest of your life, it may just be helpful in saving your life.  To me, the cost is worth it.



Works Cited

Laino, Charlene.  (August 30, 2000).  “The high cost of genetic testing is quickly overtaking other concerns as the No. 1 deterrent to widespread screening, according to a panel of experts.”  MSNBC.  Retrieved March 22, 2001, from World Wide Web:  http://www.msnbc.com/news/298709.asp

Yan, Hai and Kenneth W. Kinzler.  (September 15, 2000).  “Genetic Testing – Present and Future.”  Science Magazine 5486(289) 1890-1892.  Retrieved March 22, 2001, from World Wide Web:  http://www.sciencemag.org/cgi/content/full/289/5486/1890?maxtoshow=&HITS=10&hits=10&RESULTFORMA
T=&titleabstract=genetic+testing&searchid=QID_NOT_SET&stored_search=&FIRSTINDEX=&fdate=10/1/1995
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