Five years of major projects at the Shriners Hospital for Children – Canada
medical, technological and human advances to support patients
The DNA Sequencing Project at the Shriners Hospital for Children – Canada (Shriners) combines several components of the MUSCO Initiative: the acquisition of cutting-edge equipment enabling significant advances in research, an inter-institutional collaboration with CHU Sainte-Justine with the hiring of a genetic counselor, and the combination of research and clinical advances enabled by the establishment of this new role. The project is based on a cutting-edge clinical program developed to identify mutations associated with hereditary musculoskeletal disorders.
Cutting-edge technological advances for a better understanding of hereditary diseases
The project got off to a concrete start with the acquisition of sequencing equipment, the first step in developing this clinical program. To this was added the acquisition of a nucleic acid extractor to increase the productivity of the molecular diagnostics laboratory. The impact this has had on patients is significant: better diagnosis and treatment of children with metabolic bone diseases. With this in mind, the Executive Committee subsequently approved the purchase of a new piece of equipment, an X-ray scanner, whose usefulness lies in measuring the microstructure of bones in the forearm and lower leg thanks to higher resolution images, thus enhancing the diagnosis carried out with patients.
The technological structures acquired have enabled :
- 828 samples to be collected;
- 642 genomes to be sequenced;
- the DNA of 560 families to be sequenced.
Bridging the gap and paving the way for other resources
But the project went beyond the acquisition of cutting-edge equipment. Discussions between the teams have led to a collaboration that was not initially envisaged when the Initiative was launched: the recruitment of a genetic counsellor as a link between CHU Sainte-Justine and the Shriners. There’s no doubt that this resource and the transversal position she occupies have greatly favored collaboration between the two centers in the development of the Sequencing project, and the cooperation is felt to be very positive by the professionals.
The counsellor facilitates the exchange of information between the teams at the two hospitals to optimize patient care, and follows up on all molecular analysis results. A loan-of-service agreement has been drawn up and signed specifically for this position, to enable this resource to access patient files at both facilities and thus facilitate collaboration.
It’s a safe bet that this approach could pave the way for other shared resources of this kind. While the Shriners teams had never before benefited from this type of expertise within their facility, they expressed that they didn’t know how to do without it now. And with good reason: the results of a survey distributed to professionals in November 2021 were very positive about her intervention, with 100% of respondents describing her response to requests as “Excellent”, the adaptation to the teams’ reality and context, the quality of exchanges and follow-ups, and this new resource’s ability to listen, empathize and be discreet.
Helping families understand genetic diseases
The genetic counsellor’s clinical and research roles make her an invaluable resource for explaining and communicating sometimes complex genetic results to families in a clear and understandable way. Families are better able to understand the genetic aspects of their condition, and can rely on the counsellor as a point of contact in either of the two centers to answer any questions or concerns. Over the past year, the genetic counsellor has been present at the Bone Metabolism Clinic at the Shriners and at the Genetics Clinic for Bone Dysplasia and Musculoskeletal Conditions at both facilities, preparing cases, taking medical and/or family information, and explaining genetic analyses and results to families. She also ensures systematic follow-up of all test results.
On the more specific research front, she helps identify patients eligible for certain research projects, acts as a bridge and facilitates the obtaining of consents. For example, she has helped with recruitment for research projects related to rare musculoskeletal and neurological diseases such as congenital scoliosis, limb and dental anomalies, and exome sequencing for patients without a diagnosis.
I try to take as much time as possible to help patients understand the genetic aspects of their condition so that they feel well informed, as this information can often be quite complex. I also try to support families and act as a point of contact or resource person for them.Valancy Miranda, Genetic Counsellor
What about the future?
This major DNA Sequencing project will be taken forward as part of a more global program being developed across the Shriners Hospitals network in the USA. As for the genetic counsellor’s salary costs, these will now be borne by the respective departments of CHU Sainte-Justine and the Shriners, and a transition plan has been developed by the MUSCO team to ensure follow-up action on the position.
The DNA Sequencing project, and the collaborative approach that the teams have been able to develop and maintain, is deeply rooted in the desire to make information accessible and understandable to patients, and we wish the teams every success in the future!
Photo Credits: Shriners Hospitals for Children – Canada and MUSCO