Donor Gift Speeds Genetic Testing in NICU and PICU, Improving Diagnosis and Care
Some babies are born with serious health problems, from chronic seizures to heart defects, without a clear underlying cause. To try and uncover the root of what’s wrong, doctors can use whole exome or whole genome sequencing, enabling them to test thousands of genes at the same time.Dr. David Chitayat, a SickKids physician and Medical Director of University of Toronto’s MSc Program in Genetic Counselling, explains that whole exome/genome sequencing can direct doctors towards the right treatment, an approach called precision medicine. It can also provide families with more accurate information about the prognosis and recurrence risk (the chance of having another child with the same problem), empowering them to make informed decisions about treatment and future pregnancies.
Photo Caption: Dr. David Chitayat shows his MSc Genetic Counselling students how to conduct a typical baby exam in 2014. Photo Credit: University of Toronto
Even when whole exome/genome sequencing fails to find the cause, SickKids doctors don’t give up.
“If we cannot find a diagnosis, we treat the findings and might redo the test in one or more years since new genes are being identified almost on a daily basis,” says Dr. Chitayat.
With that gift...[he] will be better able to diagnose and treat our smallest, most vulnerable patients.
Until now, whole exome/genome sequencing at SickKids was hard to get. Physicians had to submit a request to the Ministry of Health, then wait. Approval took up to a month, the whole process up to four months. In the interim, parents waited and worried, not knowing what was wrong or what might happen. Many watched their babies deteriorate on life support, unsure if they’d ever get better.
But thanks to two major gifts from one anonymous donor, SickKids now has the funds for rapid whole exome/genome sequencing in the neonatal and paediatric intensive care units. Instead of waiting months, doctors can have the results back within 36 hours to one week.
However, this transformative gift wasn’t inspired by the promise of whole exome/genome sequencing. It was Dr. Chitayat, a physician revered for his gentle bedside manner and clinical expertise.
“He is calm and totally focussed on his patients,” says Cheryl Shuman, Director of Genetic Counselling at SickKids and Program Director of University of Toronto’s MSc Program in Genetic Counselling. “He spends whatever time it takes for them to walk out and feel that they understand things better and have their questions answered.”
He also remains dedicated to his patients, even many years later.
“He’ll read an article, and something will remind him of a family he saw 10 or 15 years ago,” says Cheryl. “And he’ll connect back with that family because he thinks he can help them find an answer he couldn’t before.”
Hannah, a former patient of Dr. Chitayat’s, knows that kind of dedication firsthand. “I was scared and vulnerable, but Dr. Chitayat looked me in the eyes, smiled, and assured me that he was there to help,” she says. “With compassion, patience and wisdom, he took the time to explain what was happening with my baby. I won’t forget his kindness.”
Dr. Chitayat’s kindness inspired a transformational gift. And with that gift, he and doctors like him will be better able to diagnose and treat our smallest, most vulnerable patients.
To him, and our anonymous donor, we say thank you.
This gift was made in honour of Spencer, Aidan, Eli Otis and Judy Banks.
