The Centre for Genetic Medicine: helping patients and families solve genetic mysteries

This year we are celebrating the five year anniversary of the SickKids Centre for Genetic Medicine. Founded in 2012, the Centre was established to bring together the brightest minds in genomics, patient care, education, policy and research with the goal of one day making genomic testing and personalized medicine the standard of care for all patients across the hospital.

The Centre has helped many patients, like Colton and his family, solve genetic mysteries on a diagnostic quest for answers they have long been searching for.

Colton was only 10 days old when he was first seen in the Genetics Clinic at SickKids for assessment regarding an unusually small head.

As a child, Colton presented with primary microcephaly, a migrational disorder characterized by a small head and brain circumference, intellectual impairment, and frequent infections, something that was initially not recognized to be relevant because Colton always recovered from short-term infections and illnesses. At nine years of age, he was diagnosed with retinal dystrophy, a progressive disorder that leads to gradual reduction in vision.

For the next decade Colton and his family returned to SickKids as new genetic tests became available in hopes of identifying the genetic disorder underlying Colton’s condition, but testing consistently yielded negative results.  

After two decades, Colton was officially diagnosed with Roifman syndrome this past summer, based on the results of whole genome sequencing done by the Genome Clinic. This makes Colton one of less than 15 children reported with this rare condition in the medical literature to date.

“Colton’s doctors had always suspected he had a genetic condition, but were never able to put a name on what he had,” says Shirley Murchison, Colton’s mother. “You can’t underestimate the value of an answer, and finally coming to the end of a long unsolved mystery in identifying Colton’s condition.”

Roifman syndrome is characterized by immune deficiency, abnormal growth and formation of bones and joints, vision problems and cognitive delay. Microcephaly is also a common feature. Although the condition was first named by SickKids’ Dr. Chaim Roifman in 1999, the genetic cause of this syndrome was not identified until 2015.

Children with rare genetic conditions like Roifman syndrome often undergo a long diagnostic odyssey. Since the gene underlying the condition was identified, the condition can now be more easily diagnosed and medical complications like recurrent infections and lung disease can be prevented in these patients down the line.

Centre staff hope that one day, all patients can undergo genomic testing. Toward that goal, in 2013, the Centre established the Genome Clinic at SickKids, which advocates for the importance of genomic testing across the Hospital and implementing this as a standard of care. For children like Colton who don’t receive a genetic diagnosis from traditional genetic testing, the clinic is now able to provide a diagnosis in 35 per cent of cases. Across the hospital, over 200 patients have undergone whole genome sequencing with funding from the Centre.

“This demonstrates the power of next-generation sequencing and how it has transformed the field of genetics enabling us to solve previously unsolvable mysteries,” says Cheryl Cytrynbaum, Genetic Counsellor at SickKids who has been involved in Colton’s care since early childhood. “An accurate diagnosis is an integral component of patient care for individuals with rare genetic conditions. Being able to identify a diagnosis for Colton will provide his family with a better idea of the course of the condition and identify opportunities to be proactive in the future.”

Moving forward, the Centre is focusing on education, bringing to light the importance of genetics to other disciplines so that physicians across the Hospital know when and how they can order genetic tests for their patients.

In Colton’s case, the education of family members is also imperative, as Colton’s diagnosis will have implications on the reproductive decisions of his siblings, who can now be tested to see if they may be at increased risk to have children with Roifman syndrome.

“This is an exciting time for clinical genetics and research because advances in genomic testing allow the delivery of truly precise and personalized care as we discover new genes and their impact on our health,” says Dr. Roberto Mendoza, Co-Director of the Centre for Genetic Medicine.

The Centre for Genetic Medicine is committed to providing quality sources of information about genetics and genomic medicine to patients, families, health-care providers and the scientific community.

Read more about educational resources provided by the Centre for Genetic Medicine.