4 deeply personal stories about the impact of genetic testing Genetic testing may result in a clear diagnosis, supporting more informed disease management.

By Rebecca Renner | for Spark Therapeutics

Certainty can be rare in the medical profession. Doctors often treat symptoms without knowing their underlying cause. Now, health care professionals are beginning to utilize genetic testing to diagnose inherited diseases with more confidence, allowing for more informed management plans and connecting their patients to the appropriate network of support.

Genetic testing is having an immense impact on the lives of people with inherited retinal diseases, or IRDs, which cause gradual vision loss, often resulting in blindness. At Beyond the Science: Perspectives on Genetic Testing for IRDs, Eye Want 2 Know, an educational genetic testing initiative sponsored by Spark Therapeutics, four people shared their stories about the power of a genetic diagnosis.

An accurate genetic diagnosis defines career path

Growing up, Christopher Moen, M.D., had a “normal” childhood. Though he struggled with things like seeing at night, he was like any other child. Until at 12 years old, he learned that he, like 20 other members of his extended family, had the IRD, retinitis pigmentosa (RP).

What could have been a devastating revelation that he would eventually go blind sparked a fire for knowledge. At the age of 15, he accepted an opportunity to volunteer in a prominent laboratory at the University of Pennsylvania. There, he assisted with genetics research by helping to evaluate blood samples taken from his own family members.

The researchers started by assessing the genes known to cause RP. When the test results came back negative, the team expanded their search to other inherited eye diseases. As it turns out, the disease that affected multiple generations of his family was actually another inherited eye disease altogether called Choroideremia. Genetic testing changed what the whole Moen family knew about their disease and enabled them to receive an accurate diagnosis.

For Dr. Moen, the experience was transformative. It motivated him to study science and led to a career in medicine. After 12 years as an emergency physician, the deterioration of his sight no longer allowed him to practice emergency medicine, but it paved the way for a second career in advocacy as the Chief Medical Officer of the Choroideremia Research Foundation. The Foundation raises funds for research, helps provide resources, and creates a community around those living with Choroideremia.

Decades after his own experience with genetic testing, Dr. Moen continues to believe it empowers people: “A correct diagnosis gives people a start so they can learn about their disease. They can find resources and support within a community of people just like them.”

Genetic testing: even better days to come

Elias Traboulsi, M.D., M.Ed, is head of the Department of Pediatric Ophthalmology and director of the Center for Genetic Eye Diseases at Cleveland Clinic's Cole Eye Institute. Throughout his career, Dr. Traboulsi has seen how far genetic testing has come.

When he was in medical school in the 70s and 80s at the American University of Beirut in Lebanon, more than half of the children in medical wards there were hospitalized for genetic diseases. Some diseases caused blindness. Others were terminal. Some impacted whole families.

Since coming to America to pursue a career in ophthalmic genetics, he has seen the rapid shift in genetic testing technology change his patients’ lives.

“In 2019, we can help people with genetic diseases by providing them with unequivocal and defined molecular diagnoses,” said Dr. Traboulsi. “We have a much better idea about the clinical course of their diseases and can help them accordingly, by providing genetic counseling and referrals to medical specialists as needed. We’re no longer in the era where we used to say, ‘I’m sorry, but there’s nothing I can do to help you. Those days are gone, and there are even better days to come.”

Pursuing knowledge and skills to become best self

With the help of Eye Want 2 Know, Danelle Umstead, a decorated American alpine skier and three-time Paralympian, experienced this genetic testing revolution from a different perspective.

At just two years old, Danelle needed glasses. By 13, her persistent headaches compelled her mother to take her to the eye doctor, where she was diagnosed with RP and learned that she would eventually go blind.

Sixteen years later, at age 29, Danelle lost central vision in both eyes and was beginning to lose her peripheral vision. “I spent most of my time on the couch. I believed people who had a visual impairment really didn't have a good future. I had nothing to look forward to.”

Then her father convinced her to ski with him. “For the first time since I started losing my sight, I felt a sense of freedom, a sense of joy that I hadn’t felt since I started losing it,” said Danelle. Skiing changed her life. She moved to the mountains in New Mexico, met the love of her life, and in 2010 represented the United States and won two bronze medals in the Paralympic Games. She went on to win a third bronze medal at the 2014 Olympics and a career total of 53 World Cup medals.

But Danelle’s journey wasn’t over. One day, she woke up completely paralyzed on the right side of her body. Her husband took her to the emergency room, and doctors diagnosed her with multiple sclerosis (MS). A diagnosis that called her previous IRD diagnosis into question. “I found out that people with MS start losing their vision, too.” In need of answers, she finally underwent genetic testing.

When the results came back, Danelle received confirmation that she does have RP. “At each step in my life, I’ve pursued knowledge and skills, so I could be my best self,” said Danelle. “With skiing lessons from my dad to genetic testing, I am empowered by the information and tools I am given.”

Precise diagnosis empowers patients to focus on next steps

Just like it empowers patients, knowing a person’s exact diagnosis through genetic testing empowers professionals too. Meghan DeBenedictis, MS, LGC, M.Ed, a licensed certified genetic counselor and research coordinator at the Cleveland Clinic’s Cole Eye Institute, has been counseling patients for nine years. In that time, she has witnessed the clarity genetic testing can offer patients and their health care professionals.

Meghan shared, “the most profound impact of a genetic test result that I have ever experienced in my practice was the result from an 8-year-old little boy.”

The boy had started going blind at the age of four. Across his diagnostic journey, his parents took him to multiple doctors where he received four contradicting diagnoses for his vision loss. Desperate for answers, his parents sought out genetic testing. The results came through six weeks later. At first, Meghan was excited about solving the mystery and having a genetic diagnosis. But her feelings quickly turned to despair.

The little boy had juvenile Batten disease, a rare neurodegenerative disorder with a primary symptom of vision loss due to the death of retinal cells. Batten disease comes with other complications that can include neurological impairment, seizures and loss of developmental milestones, including mobility and speech.

She gathered a team of doctors best equipped to deliver the diagnosis to the family, answer their questions, and provide support. With the help of genetic testing, Meghan was able to prepare the boy’s parents with resources and information to better understand his diagnosis.

If you are interested in gaining clarity on your health or the health of your loved ones with genetic diseases, specifically IRDs, consider talking to your doctor about genetic testing. Identifying and understanding the changes in your genes (mutations) that may be responsible for your symptoms is the first step in opening new possibilities for yourself and your family.

“With advances in genetic testing, these are no longer conversations of despair and loss of hope,” said Meghan. “Instead, we have the ability to provide a more precise diagnosis that empowers patients and focuses on positive next steps and hope for the future.”

Visit www.EyeWant2Know.com to find out how to start the process of genetic testing for inherited retinal diseases.

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