Family Affairs, Charting New Territory
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Family Affairs - The Provincial Medical Genetics Program is changing how we predict + treat disease.
Tracking the genetic footprints of generations of family members is helping the Provincial Medical Genetics Program change how we predict + treat disease.
When Veronica’s mother, uncle and cousin were all diagnosed with the same rare form of adrenal cancer, oncologists feared that others in her large Dutch family could also be at risk. It prompted Veronica to take her mother to an outreach clinic of the Provincial Medical Genetics Program. Clinical geneticist Dr. Barbara McGillivray and other geneticists and counsellors at BC Women’s Hospital, headquarters for the program had already successfully identified the specific gene associated with the rare cancer. Thanks to the program, Veronica discovered that she was not a carrier.
For 40 years, BC Women’s has served as the heart of the Provincial Medical Genetics Program, BC’s epicentre for the diagnosis, study and treatment of gene-related conditions like those affecting Veronica’s family. Today, the program helps more than 4,000 families across BC and the Yukon.
“We deal with whole families,” says McGillivray, whose research is part of an international effort to advance our understanding of the human genome. “We keep our charts forever because they involve generations.”
McGillivray’s team tackles psychiatric genetics, cardiac issues, developmental disabilities and hereditary cancers. However, fully half of the team’s cases involve the prenatal diagnoses of genetic disorders. It’s here, in this emotionally charged arena, that McGillivray and her team help families navigate their risks and options.
“Sometimes [the diagnosis of a genetic disorder] doesn’t turn out well, and that’s very difficult,” says McGillivray. “Our fetal pathology department has the best chance to find the underlying cause, or to see if there’s a recurrence risk.”
As McGillivray and her colleagues unlock each genetic mystery, they broaden our ability to diagnose and treat gene-related conditions in youths, adults, and even unborn babies.
“We have people on the cutting edge of research, but it’s important to learn from the families,” says McGillivray. “It’s only when those two halves are together that you can make sense of things.
By Melissa Edwards
Advanced fetal brain imaging + research is breaking new ground and saving lives.
Dr. Denise Pugash, pictured right, a leading diagnostic radiologist at the Centre for Prenatal Diagnosis and Treatment at BC Women’s Hospital and a clinical professor of radiology at UBC, is accustomed to charting new territory. Pugash is among the elite few in her field to use real-time high-resolution ultrasound to study fetal brain development. In fact, her groundbreaking diagnostic imaging work and research at BC Women’s is providing a unique perspective on the human brain – the one organ in the body that continues to develop in complex ways during fetal life and even into childhood.
A new frontier
We can now see subtle abnormalities [in a fetal brain] as early as 20 weeks [gestation] that predate the wrinkles and folds that develop at 34 weeks – clues that there might be trouble later on,” she says. “And using the same technology, we can also reassure parents when we see that the brain is developing normally.”
Pugash adds that supporting worried parents facing high-risk pregnancies is an important part of her work: “Parents naturally have lots of questions. I’m using the technology to its absolute maximum to try and provide some answers.”
Recently, Pugash used an ultrasound scan of the brain of a baby to diagnose a congenital infection called cytomegalovirus. Left undetected and untreated, the condition could have resulted in profound developmental delays, seizures or even death. However, thanks to early diagnosis and treatment at BC Women’s, the child was able to be home to celebrate her first birthday.
Today, in addition to bringing her diagnostic expertise to the study of fetal brain development at BC Women’s, Pugash is teaching others how to use real-time high-resolution ultrasound to its full potential, so that high-risk babies can reach theirs.
By Helena Bryan
Healthy women. Healthy babies. Healthy families.
This is the driving spirit behind every program, every equipment purchase and every act of care at BC Women's Hospital + Health Centre.
From pregnancy to birth to mature women's health, BC Women's is the only facility in BC with a provincial mandate to meet the comprehensive healthcare needs of women and newborn babies.
Pacific Blue Cross, Mrs. I Chen Lo, Central City Foundation, Kiwanis Club of West Vancouver, Mr. Resham Sian, Mr. Nevin Kilpatrick, Mr. Chad Decker, Mr. Lee Stefano, Mrs. Debbie Callison, Mrs. Ashleigh Unger
BC Women's Hospital thanks Odlum Brown for 15 years of continuous support.
The content provided in Women’s Health eNews is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.