Medical Negligence from the Misinterpretation of Genetic Testing Results

Genetic testing is one of the miracles of modern medicine, but it can also become somewhat of a double-edged sword. That is because the technology is so new and evolving every day. A genetic test can tell you if you are at risk for certain diseases, reveal the disease that is causing your symptoms, and it can tell you if you might pass a disease on to your children. However, the genetic test must be interpreted accurately, and therein lies the challenge.

What is a genome?

According to a home genetics testing service, “Your genome is the complete set of DNA contained in virtually every one of your cells. Your genome is like a blueprint–containing all of the instructions needed to make and maintain the function of every cell, tissue and organ of your body.” More than 99 percent of the human genome is identical in all human beings. Our individual differences make up just one percent of our genome.

How does genetic testing work?

The U.S. National Library of Medicine of the National Institutes of Health (NIH) reports that genetic testing is performed on a sample of blood, hair, skin, saliva, amniotic fluid or other tissue. You have likely heard of a person getting the inside of their cheek swabbed to collect cells. The sample is sent to a laboratory where lab technicians will sequence, analyze and interpret your DNA. The lab will return a report with your results which your doctor will interpret and discuss with you.

What are the consequences of the misinterpretations of genetic testing results?

A tragic example of a lawsuit after the negligent misinterpretation of genetic testing results occurred when a woman in her mid-30s visited her OB-GYN to review the results of a genetic test that she had done. She had been tested for two specific gene mutations due to a family history of cancer. Although the lawsuit alleges that the results of the tests were negative, the nurse practitioner misinterpreted the results and reported the results as positive, which meant that she had a 50 percent chance of being diagnosed with breast cancer and an 80 percent chance of being diagnosed with uterine cancer. The plaintiff was referred to a gynecologist who performed a hysterectomy, and another surgeon who performed a double-mastectomy with breast reconstruction.

The plaintiff later discovered that the results of her tests had in fact been negative. The registered nurse had misread the results. The lawsuit alleges that neither surgeon independently confirmed the results of the testing, but just proceeded with the surgeries.

In a story in the Washington Post, the woman said, “I am damaged for the rest of my life.”

How to reduce the risk that your genetic test will be misinterpreted

Because the technology is changing and evolving so rapidly, it is vital that a person work with a genetic counselor who will provide a more precise interpretation of the results of your genetic test. The NIH shares a link to the National Society of Genetic Counselors, who will discuss the results of your test. Some of the emotional risks that they describe regarding genetic testing include:

• Feeling anxious while you await the results
• The possibility of losing life insurance if you test positive
• The possibility that a test result may impact your job if you work for a company with 14 or fewer employees

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