Medical Genetics Program

Established in the late 1970s, the Medical Genetics Program is home to 21 physicians, staff and researchers. The program offers a wide range of testing, treatment and education to more than 5,000 patients each year.

General Genetics Clinic – provides assessment and counseling for infants, children and adults with birth defects and/or developmental delays, and individuals affected with, or having a family history of a known or potential genetic disease.

Cancer Genetics Clinic – offers genetic counseling and testing for patients and their families at risk for inherited forms of breast, ovarian or colorectal cancer.

Prenatal Genetics Clinic – provides screening and genetic counseling for patients at risk of passing on a genetic disorder to their infant.

Newborn Screening Program – tests more than 2,500 newborns each year for 29 potential genetic metabolic disorders and manages those who initially test positive.

Inherited Metabolic Disorders Program – treats patients living with severe genetic metabolic conditions, and phenylketonuria.

Neurometabolic Clinic – provides a consultative and management role for severe neurogenetic and neurometabolic disorders.

ABOVE: LHSC's medical genetics team celebrates their seventh Metabolic Family Day funded in part by Children's Health Foundation. Left to right: Dr. Bruce Gordon, Kathy Corley, Dr. Tony Rupar, Deb Comuzzi, Dr. Murray Potter(from McMaster), Dr. Chitra Prasad, Dr. Jack Jung, Joanne Weir, Jennifer DiRaimo, Janice Little, Jill Tosswill, Dr. Sharan Goobie, Dr. Narayan Prasad, Dr. Victoria Mok Siu, Dr. George Hinton. On the floor is Jo-Gee the clown, aka Joanne Psiuk-Rodgers.

Not pictured: Suzanne Ratko, Sarah Denomme, Deborah Isacsson, Carol Denomy, and Linda Castle.

Working with families every step of the way

Everyone is inclined to have a bad day every once in awhile; a day when things just don't go as planned.

Days like those are rare for Dr. Chitra Prasad, medical geneticist and director of the Metabolic Clinic in the Medical Genetics Program at Children's Hospital, London Health Sciences Centre, but when they do happen she has a simple solution to turn things around. She calls it her ‘sunshine folder.'

"It's for those days when things are extremely difficult," she explains. The sunny yellow folder contains thank you cards, notes and photos from families she has treated and helped over the years.

Caring, innovating and teaching are a part of Dr. Prasad's DNA. Since joining Children's Hospital and LHSC seven years ago, she has worked with hundreds of paediatric and adult patients, each with rare genetic metabolic disorders such as leukodystrophies, phenylketonuria (PKU), or Gaucher disease.

Many of these patients are now part of a growing metabolic disorder support group spearheaded by Dr. Prasad and her team. Sharing stories and words of advice with one another, this group is also involved with creating regular newsletters and planning the annual Metabolic Family Day, supported in part by Children's Health Foundation. This day-long workshop is now in its seventh year.

"People have made lasting friendships out of this workshop," says Dr. Prasad, who notes it has grown each year and includes cooking demonstrations with low-protein recipes that are necessary for people with metabolic disorders, keynote speakers and a daycare that runs throughout the day so families can focus on interacting and learning with others.

The newsletter contains messages from Dr. Prasad and Dr. Charles (Tony) Rupar, director of the Biochemical Genetics Lab (LHSC) and scientist at Children's Health Research Institute. It also publishes personal stories from Children's Hospital patients, resources for families, recipe ideas, and a variety of information including new treatment options for different genetic and metabolic diseases.

"Education is key," explains Dr. Prasad. "We have to enable our patients and families with the right information and the tools to learn more, because in the end they are the ones living every day with these conditions."

A large part of that education comes from the health care professionals that make up the metabolic team at Children's Hospital. Patients are followed by a social worker, dietitian, metabolic counselor, and overseen by a group of physicians including Drs. Prasad, Rupar and Sharan Goobie, as well as Dr. Narayan Prasad in the specialized neurometabolic clinic. Dr. Rupar and his team in the lab are also vital to the successful management of these disorders.

"What do you say to the person who saved your daughter's life? Thank you, thank you, thank you! Your care and compassion for Kennady and our whole family are obvious. We truly appreciate your honesty and your open communication at all times."

~Karen, Blair, and Kennady Stone

"It's absolutely essential to have a whole team's support," says Dr. Prasad. "Genetic and metabolic disorders can pose extremely difficult problems for families, with huge impacts to their lifestyle and the entire family structure."

With many of these disorders, early detection makes a big difference to the success of treatment. Through research advances, screening for metabolic disorders in newborns has increased to 29 possible disorders from just three since 2004.

Along with her genetics colleagues, Drs. Jack Jung, Victoria Siu and Goobie, Dr. Prasad is active in teaching, education and research. She has lectured in different centres around the world to further the advancement of genetic screening and treatment.

Inherent to Dr. Prasad's DNA is her caring and innovation, along with her humility. "In our program, it's a team approach to patient care. Less about ‘me' and more about ‘we' ensures we deliver the best care to our patients."