Genetic Testing: Saving Lives One RNA Sequence at a Time

Updated September 25, 2019

Genetic testing can help you estimate if you’re susceptible to certain types of cancer. This foreknowledge can help you take preventative steps rather than getting taken by surprise.

This type of testing works by searching for mutations in your genes, as well as in chromosomes and proteins. But did you know it can also help find a treatment if you already have cancer?

In fact, genetic testing helped doctors save a young boy's life by giving them a clue on how to approach his rare type of cancer.

How Genetic Testing Saved Quincy’s Life 

David Lodge and Lara Stuart rushed their 4-month-old son Quincy to UCSF Benioff Children’s Hospital-Oakland emergency department after a rash led to swelling of the abdomen.

After doctors ordered several medical tests, they discovered Quincy had juvenile myelomonocytic leukemia (JMML), a rare blood cancer that affects younger children. 

After Quincy’s diagnosis, his parents moved him to UCSF Benioff Children’s Hospital-San Francisco, whose clinical researchers had considerable experience with JMML. 

JMML starts in the bone marrow, where it triggers a high white blood cell count that displaces the marrow’s job of producing red blood corpuscles and platelets.

The only viable medical solution is a stem cell transplant, which provides temporary remission. 

However, since Quincy was too sick to tolerate this possible cure, his physicians tried strong doses of chemotherapy.

This not only failed, but it aggravated his condition, leading to an emergency spleen removal. 

As a desperate last resort, his doctor’s ordered a UCSF500, a genetic test that profiles a person's RNA sequence.

They discovered that FLT3 and CCDC88C, two genes that should have inhabited different chromosomes had fused.

Although the medical team had never seen such a genetic alteration before, it gave them the idea to try Sorafenib, a medication that inhibited FLT3 in adults with liver or kidney cancer. 

Within three days of taking Sorafenib, Quincy’s blood count fell from an abnormal 70,000 to a normal 10,000.

He left the hospital after two weeks and after two months was strong enough to have the bone marrow stem cell transplant.

Now, after more than two years, he is off the Sorafenib because he is in complete remission. 

Should You Ask for Genetic Testing? 

Although it may be scary to ask for genetic testing for yourself or a loved one, either as a way to get answers to some unresolved health issues or as a preventative measure, there are many advantages to getting it done.

It will provide relief from any uncertainty, give you ample time to make lifestyle changes, and help you make well-informed medical decisions. 

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