MORRISTOWN — From across the globe each year, thousands of people who have trouble having a healthy baby travel to a nondescript office building in Morristown — the home of Reproductive Medicine Associates of New Jersey, headquarters for the largest medical practice of its kind in the nation.
Julia Horowitz, a 16-year-old sophomore at Watchung Hills Regional High School, found her way there, too, but she was driven by a different goal. The Warren Township teen, like a growing number of people, sought help to unlock her genetic code — something that could affect decisions she makes, including having a baby.
Julia has known since the fifth grade that she was born with a genetic abnormality that was detected while she was still in her mother’s womb. Frightened but determined, her parents, Karen Kessler and Robert Horowitz, stayed the course even after their obstetrician said many couples facing the same prospect had terminated their pregnancies. Kessler delivered her third child, a healthy daughter, on Nov. 12, 1995, naming her Julia Faith, "because we wanted to believe we had faith that we could handle whatever was coming our way," she said.
So far all’s well for Julia, an honors student and member of the Model UN and other academic clubs. But she decided last fall she didn’t want to wait until she was ready to start a family before she understood her DNA. With the help of her parents and the Morristown center, Julia embarked on a high-tech extracurricular activity: a mini-internship to learn about herself.
While most of the 5,000 patients treated every year by the multi-state practice are trying to overcome infertility, a growing number want to learn about their genetic history before they start a family, said Richard Scott, a reproductive endocrinologist who co-founded the practice.
The interest is on the rise because genetic research, much of it pioneered by Scott and his colleagues, can detect and even correct some problems. Obstetricians advise patients to screen to see if they are carriers of serious and potentially lethal diseases like cystic fibrosis and sickle cell anemia, said Scott.
"Part of the process of having a healthy family is understanding. There’s a lot of misunderstanding about our field. … It can be daunting, but it really does affect a lot of people. This is real-life stuff," Scott said.
HEALTH AT STAKE
Julia was born with a "balanced translocation," which occurs when a collection of genes, called a chromosome, breaks, and a portion of it reattaches to a different chromosome. When that happens, genetic matter may be lost. Julia’s goal was to find out whether the two affected chromosomes lost anything vital that would compromise her health.
"Each gene is like a short story," Scott said. "The chromosome is a book which contains a compilation of thousands of short stories along with the index and related information so that they can all be found and used easily."
When Julia was in the womb, geneticists knew how to identify balanced translocations, Scott said, but "there was nothing we could do about them beyond explaining to the couple why they might have a difficult time conceiving, have an increased risk for miscarriage" — and an increased risk of having a child with abnormalities.
"What has changed is our ability to assess that risk in advance," Scott said. "This improves outcomes dramatically for these couples and makes for healthy babies."
Scott added that with recent advances, some companies "will sequence your genome for you to see if they can determine your pre-disposition to all kinds of things — to diabetes or stroke or cancer, the list goes on and on. We don’t know exactly how to use all that information yet."
Julia’s mini-intership allowed the staff to learn from her while she was learning from them, Scott said.
She donned a lab coat and spent about 25 hours after school in September with lab supervisor Heather Garnsey, overseen by Nathan Treff, director of Molecular Biology Research. She took her blood to get a DNA sample, then stained, magnified and examined it in some 260,000 spots, making it easy to see something extra or missing.
"Dr. Scott and Heather assured me, because there were no clinical symptoms it was very unlikely there was going to be some shocking news," said Julia. "Still it was interesting to me throughout the entire process and still suspenseful."
Every day, Julia said, she couldn’t wait to share what she had learned with Darrin Wolsko, Watchung Hills High School biology teacher and science department supervisor.
Wolsko said when he tutored Julia in biology, her fascination for science and genetics in particular were evident, musing about "what if we could clone this or do that." But the experience of shadowing a genetic scientist and using cutting-edge technology to run tests ignited a passion that could shape the rest of her life, Wolsko said. "She sees a future in genetic medicine."
Scott said science cannot yet answer what translocations mean, or determine their full impact on life.
"Some of the questions Julia asked in her work are some of the ones that are being studied at the highest levels," Scott added. "This is not busy work."
‘VERY REASSURING’
The research ended as well as she could have hoped for. "At the end of the entire process, we were able to look and see there wasn’t any important information that was lost," Julia said. "That was very reassuring — something to ease my mind, and my mother’s and father’s."
But while the research showed the genetic defect won’t increase the likelihood of passing on problems if she gives birth, it still means Julia may have difficulty conceiving or carrying a child, Scott said. If that happens, "she is likely to end up back here, where we can make an embryo test-tube-baby style, grow it out to 200 or 300 cells, then take a cell out and test it to make sure there that it’s normal and balanced."
"The more she understands herself and the more we understand about her circumstances, it will be easier for her to navigate when she gets to that point in her life," he said. "She doesn’t have to fear it."
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Morristown fertility clinic helps teen with genetic defect unravel mysteries of her own DNA
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