Home DNA testing: Blessing or curse?

In-home DNA testing can be a medical blessing or crush hope. Photo: Testing DNA / AP

WASHINGTON, July 15, 2013 — In-home, self testing of DNA is now available. For prices as low as $100, individuals can use the “spit and submit” approach, taking a saliva sample and mailing it to a lab to receive information on genetic makeup.

Genetic testing can reveal a predisposition to developing Huntington’s disease, certain cancers, type-2 diabetes and an assortment of other diseases. Testing can also reveal which drugs would have the most success in fighting disease.

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One downside to this testing is that the labs offering home DNA kits are not medical labs, and they only sample a sliver of available DNA, potentially leading to inaccurate results. 

Another problem is that negative results may lead to false confidence. A negative reading does not categorically mean that a person will not develop a certain disease, only that they are not genetically predisposed. Some who receive negative test results see it as a type of immunity, and adopt unhealthy lifestyles believing they are “safe” from disease.

Testing can, however, provide valuable information. Those who learn of gene variants that position them for certain diseases can take steps to further reduce the possibility of developing the disease.

Genetic testing can also help perspective parents understand the possibility of passing certain genes to children, helping them to decide whether to avoid or attempt pregnancy.

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In many cases, DNA testing can reveal the most beneficial medications based on individual genetic makeup. This critical information can help treat disease effectively in early stages rather than taking a prescribe-and-see approach to treatment.

If home test results suggest a potential problem, patients can then visit medical professionals for a full screening to gain additional information.

The much publicized cases of Angela Jolie and Christina Applegate highlighted the option of taking pre-emptive strikes to reduce the possibilities of breast and ovarian cancers for those who were genetically predisposed to those diseases.

Upon learning about DNA testing, the head of the Nation Institutes of Health (NIH) Francis Collins, with a cynical attitude, whimsically submitted his saliva to three leading labs. The results were somewhat mixed but all three agreed that Collins had a significant risk for diabetes type 2 and this information spurred him into action. He has altered his diet, lost 27 lbs. and started exercising three times weekly.

Journalist Catherine Elton, author of “The Burden of Knowing” was offered the opportunity to be tested for mutations in the BRCA-1 gene, an indicator for ovarian and breast cancer. She opted to not have the test although her mother, grandmother and aunt died early from such cancers.

Several years later, while pregnant with her second child, Elton was diagnosed with breast cancer.

Katharine Moser knew the dominant disease Huntington’s gene ran through her family. Her genetic test said she was destined to acquire Huntington’s, a deadly disease without cure. When she passed this information to family and friends, she was essentially ostracized. Family members resented her for forcing them to face their own potential risk, and friends did not wish to watch her deal with the disease.  

Another worry surrounding DNA testing is the possibility that the information will find its way into a database. This could allow health insurance companies to refuse coverage to those who display genetic predisposition to disease, or cause potential employers to elect not to hire someone with a certain genetic makeup.

The decision of whether to have a DNA test is a very private matter. For some, knowledge of potential risks could be a burden, causing distraction and depression. Others may use the information to take action to avert more serious conditions.

Genetic testing involves is a complicated choice with uncertain, complicated results. Only you can decide what is in your best interest.


Paul Mountjoy is a Virginia based writer and a member of the American Psychological Association and the Association for Psychological Science



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