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The debate on personalized genetic testing

An estimated 848, 000 men and 790,000 women will be diagnosed with some form of cancer this year according to the American Cancer Society.  New genetic sequencing technologies have made it possible to get personalized genetic tests to determine one’s risk for developing a disease, including many different types of cancers.  The goal of genetic testing is to utilize the results that may indicate the presence of a disease-associated gene mutation to determine appropriate preventative care or targeted treatments.

So why have experts from the American College of Obstetricians and Gynecologists  (ACOG) recommended against individuals using such technologies to provide answers about their personal genetic risks?

According to ACOG, one of the major concerns of using such technology today lies in how and who interprets the results.

The Committee on Genetics at The American College of Obstetrics and Gynecology recently published their opinion in the June issue of Obstetrics & Gynecology recommending against genetic testing outside of clinical settings to ensure that results are carefully interpreted by an appropriate medical professional and put into a proper context for the individual, based on their medical and family history.

In recent years, biomedical researchers have identified thousands of genes associated with disease and hundreds of mutations that can increase an individual’s predisposition.   However, very few of these mutations have been validated as being clinically useful.  In other words, many genetic tests may improve diagnosis and assessment of risk, but there may currently be no treatments or preventative measures available to alter the disease occurrence or progression.

Genetic experts on the committee agree that the potential for what can be gained through advancing genetic testing technologies is very promising.  Testing for variations in genes such as BRCA 1 and 2 (breast cancer susceptibility gene 1 and 2), that are known to increase the risk of breast cancer, currently allow women and their doctors to make an informed decision regarding how often to have routine mammograms or decide if they wish to take anticancer drugs like tamoxifen as a preventative treatment.

ACOG does support genetic testing for certain mutations in genes such as BRCA 1 and 2, and others that increase the risk for diseases that have been clinically validated.  However, genes like BRCA1 and 2, with therapeutic drugs currently on the market, are the exception rather than the rule.

Genetic experts believe that a great deal of future clinical research is needed to validate the role different gene mutations have in determining disease predisposition, risk of being a carrier, as well as the risk of developing a disease despite having negative test results.

It is important for newly diagnosed and healthy individuals alike to understand that the presence of a disease-associated gene variant may suggest an increased predisposition, but it does not guarantee that someone will definitely develop the disease.  Alternately, a test result may indicate no associated disease genes, which could give the false impression that they are not at risk potentially influencing their decision to participate in preventative health screens.

Researchers are developing the technologies and simultaneously learning how to integrate new genomic discoveries into clinical care effectively and efficiently.  At this stage, more time is needed to understand the impact of genomic discoveries on the health care system if these powerful technologies are going to improve human health.  Nonetheless, we should remain optimistic about the future and the hope of finding clinically useful gene targets that will continue to transform the practice of medicine.

In this quickly evolving field of personalized care, there are a number of emerging ethical concerns such as genetic privacy, economic considerations including insurance coverage, as well as healthcare and lifestyle decision making challenges.  These areas should continually be evaluated and monitored in order to develop the best clinical practices and protect patient interests.


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