A Case of Mistaken Identity

Like many couples thinking about starting a family, Katy and John Smith* discussed carrier screening with their doctor. Katy, 31, chose a carrier screening test for 281 genetic conditions and anxiously awaited the results. But when her doctor finally telephoned, the results were not what the Smiths expected.

Medical Acronyms

This case study illustrates how a simple misinterpretation can potentially have harmful effects on a patient and his or her family.

 

Her doctor told Katy she was the carrier of two conditions, one of which she thought he called “EOA.” After the call ended, she searched EOA on the Internet and found a page that suggested the acronym referred to early-onset Alzheimer’s disease. Katy was shocked as she did not have Alzheimer’s disease in her family. Concerned that Katy would develop this condition, the Smiths spent all evening researching early-onset Alzheimer’s disease on the Internet. Their findings only worried them more, and they both found it hard to sleep that night.

 

Coincidentally, the Smiths had a scheduled counseling session with Jamie Armour, MS, CGC, a genetic counselor at Metis Genetics, for the next day. After reviewing the results, Armour informed the couple that Katy was a possible carrier for congenital adrenal hyperplasia, or CAH, not early-onset Alzheimer’s disease. The couple was so relieved to find out that Katy did not have the variant linked to early-onset Alzheimer’s disease. Armour counseled the couple on CAH and its reproductive risks and advised them on follow-up testing, which included testing John and also Katy’s parents to assess the couple’s chances of having a baby with CAH.


 What is CAH?  Congenital adrenal hyperplasia (CAH) is a group of genetic conditions influenced by the adrenal glands, which are responsible for releasing hormones that the body needs to function. Symptoms of CAH vary based on many factors, including the CAH type, sex of the patient, and the age at diagnosis. CAH disorders are autosomal recessive. “If both parents carry one copy of the mutated gene, the couple is considered at an increased risk, specifically 25 percent, to have a child affected with the condition in each pregnancy,” says Armour.

What is CAH?

Congenital adrenal hyperplasia (CAH) is a group of genetic conditions influenced by the adrenal glands, which are responsible for releasing hormones that the body needs to function. Symptoms of CAH vary based on many factors, including the CAH type, sex of the patient, and the age at diagnosis. CAH disorders are autosomal recessive. “If both parents carry one copy of the mutated gene, the couple is considered at an increased risk, specifically 25 percent, to have a child affected with the condition in each pregnancy,” says Armour.


 

This case study illustrates how a simple misinterpretation can potentially have harmful effects on a patient and his or her family. The Smiths spent an evening fretting and worrying unnecessarily due to hearing another acronym. “There are multiple genetic conditions which can be referred to by different acronyms,” says Armour. “Also, depending on the mode of inheritance, there can be different risks associated with a genetic condition. A genetic counselor takes the time to listen to a patient’s beliefs and helps re-educate the patient if it seems there has been a misunderstanding.”

 

Another way to avoid misleading acronyms is to get something in writing. “I think it’s helpful to get either a summary of the visit or a copy of the actual test results from your doctor,” Armour says. “If you have that documentation, you can double check it when doing research rather than relying on your interpretation of what you think the doctor said.”

 

However, information on the Internet can be confusing or misleading as well, so it is important to consult with a genetic counselor to help with understanding. “Genetic counselors are skilled in empathic listening and can be a compassionate resource for patients to receive and discuss sensitive healthcare information,” says Armour. “It is important to make sure you have a good understanding of your genetic test before testing to determine if the test is right for you, and after testing so, you can make the most informed healthcare decisions for you and your family.”

 

*The names of the patient and her husband have been changed to protect their identities.

 Lena Huang is a science writer and editor. She is the former editorial director of  Genome  magazine.

Lena Huang is a science writer and editor. She is the former editorial director of Genome magazine.