Mapping your health journey with genetic testing

Monday, August 26, 2024

[3 MIN READ]

In this article:

Genetic testing analyzes your cells and tissues to detect changes in the genes, chromosomes and proteins that make up your DNA.
Genetic testing is an integral part of holistic, whole-body health care, according to a medical geneticist with the Providence Clinical Genetics and Genomics Program.
After she experienced unexplained health issues, genetic testing identified nurse and entrepreneur Julie Wozniak as a carrier for a rare inherited disorder called Fabry disease. She shares her story.

Questions and concerns about a health issue she was experiencing sent nurse and entrepreneur Julie Wozniak on a health journey she wasn’t expecting. And genetic testing provided the road map.

“I was having health problems, and I wasn’t finding any answers. At first, I wrote it off as part of my getting older. But then I wanted to know more. So I went for genetic testing,” says Julie.

Genome sequencing and biochemical genetic testing from Providence Clinical Genetics and Genomics Program showed Julie is a carrier for Fabry disease – a rare inherited disorder caused by the buildup of a fat called globotriaosylceramide in her cells. The disorder causes a wide range of symptoms, including foot and hand pain, cloudy vision, gastrointestinal problems and hearing loss. In some cases, Fabry disease has life-threatening complications such as heart failure, stroke and progressive kidney failure. Julie is “staying positive” as she continues to address her health challenges.

After Julie learned her diagnosis, her biggest concern was her family. “I reached out to everyone in my family and told them to go get tested. Once I found out I was a carrier, I didn’t hesitate to have my son tested. That’s when we learned he is also a carrier for Fabry’s.” Julie’s son is not experiencing symptoms and is considering his treatment options.

“It's been up and down with many uncertainties and not enough specialists with expertise in Fabry’s available. I'll keep educating myself to support my son and help others navigate this journey and overcome its challenges,” says Julie.

What is genetic testing?

Genetic testing detects changes in your DNA that can cause illness and increase your risk of developing some medical issues. It is a vital component of holistic care, according to medical geneticist Apostolos Psychogios, M.D., known as Dr. Paul.

“Genetic testing allows us as physicians to consider all possible information and apply diagnostic methodology to determine what we think is most likely causing the health issue,” explains Dr. Paul.

There are several types of genetic tests, including the following:

Molecular tests look for changes in one or more of your genes. They identify the order of the DNA that makes up your genetic code in a process called DNA sequencing. Testing varies according to the information sought.
Chromosomal tests analyze long lengths of your DNA to identify any system-wide changes, such as a missing or extra copy of a chromosome.
Gene expression tests determine which genes are turned off or on.

“Genetic testing can be diagnostic, or it can be predictive,” explains Dr. Paul. “That means somebody can have a known health issue, and we try to see if it is heritable or passed from parent to child. Or somebody can be healthy, and we can do a test to predict if they have any chance of an undiagnosed condition.”

Tests are typically done using blood or a cheek swab. Depending on the test, they can also be done using samples of your skin, saliva or amniotic fluid. The samples are sent to the laboratory, where genetics experts examine them and look for genetic changes.

Why is genetic testing needed?

There are several reasons you might consider getting a genetic test, according to the Centers for Disease and Control Prevention.

Genetic testing can help:

Determine if you have a genetic condition that runs in your family before symptoms appear.
Assess the likelihood of having a child with a genetic condition.
Diagnose a genetic condition if you or your child shows symptoms.
Inform and guide your cancer prevention or treatment plan.

“We have about 23,000 genes, of which 7,000 to 8,000 are associated with human disease. There is a big possibility to miss a diagnosis if we don’t do a comprehensive genetic test,” says Dr. Paul.

"Sometimes, we take a shotgun approach. That means we do a big test that can give us information about what we know or what we don’t know. Sometimes, the full clinical picture with family history analysis and other medical record information can give us a clue,” he adds.

Providence offers the Multi-Cancer Early Detection (MCED) Blood Test, which uses innovative, extensively tested technology to help detect cancer signals from 50 types of cancer using only one blood draw.

“Ignorance is not bliss,” says Julie. “I’m glad to know what’s wrong. Now I can do something about it. It’s good to know what I’m up against.”

Contributing caregiver

Paul Psychogios, M.D., is a board-certified medical geneticist with the Providence Clinical Genetics and Genomics Program.

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