Frequently Asked Questions (FAQs)
How can I enroll in the clinic?
What is a referral?
What options are available if my patient does not meet the inclusion criteria?
Does my child need to be with me when I go to the clinic appointment?
How long with the appointment take?
Can I talk to someone first before I agree to an appointment?
Where is the clinic?
Do I have to pay for any of the services?
What is a genome?
How long will it take to get the test results back?
Who will have access to my child’s medical results from the study?
Once accepted into the study program, can I withdraw at any point?
Why is the genome clinic a research project?
Individuals can enroll in the clinic if they meet the following criteria. Your pediatrician or geneticist would refer (see question 2) your child to the clinic based on the following:
Cohorts (≥5 patients/year) of unrelated patients and/or families with the same syndrome/disorder with autosomal recessive (± consanguinity), dominant or X-linked disorders. Presenting disease is already well phenotyped (eg. Hypertrophic Cardiomyopathy, Retinitis Pigmentosa, Periodic fever) and responsive to clinical intervention. Pathobiology of the presenting disease is known to be polygenic, and clinical molecular diagnosis may involve examination of multiple genes with incomplete test sensitivity. Current standard of care is to request genetic testing in order to assist in diagnosis and management of the disease**
(Optional) Potential pharmacogenetic information could be beneficial for future management.
Patient is an Ontario resident; Consent and DNA samples can be obtained from both parents; Patient and parents are proficient in English Clinical diagnosis precludes a genetic etiology; Etiology of phenotype already understood; Genetic testing is not part of standard of care practice for presenting disease.
Clinical diagnosis precludes a genetic etiology; Etiology of phenotype already understood; Genetic testing is not part of standard of care practice for presenting disease.
**The project aims to primarily recruit patients prospectively (ie. WGS will be offered at the same time as standard of care multi-gene panel testing). However, there is also a retrospective arm to recruit patients who meet all the criteria above and have undergone all available clinical genetic testing which have been inconclusive.
A referral can be made by the primary SickKids physician by contacting the Genome clinic genetic counsellor or completing the Sample Submission form provided here (link to the form).
The Centre for Genetic Medicine and TCAG may be able to provide Whole Exome (WES) and Whole Genome sequencing (WGS) opportunities for patients who do not meet the Genome clinic eligibility criteria. If you would like to discuss the possibility of obtaining WES/WGS for your patient, please complete the following Submission Form.
Whether or not your child has to attend the appointment will be dependent on if he/she has ever been evaluated by our genetics team. In some cases we may be able to meet just the child’s biological parents, to obtain consent. In other cases, the child may need to be seen for an evaluation and blood draw to be performed.
Participants will be required to attend three (up to a maximum of five) one and a half hour appointments at the genome clinic during the course of one year and may be contacted several times in the subsequent four years to receive additional information discovered by the clinic or, if they have consented to be contacted, to participate in related research projects.
Yes, if you are interested in learning more about the appointment you may talk to our genetic counsellor Nasim Monfared at 416-813-7654 ext 202054 or email her at firstname.lastname@example.org. She can speak with you over the telephone and arrange to meet you at your next clinic visit to SickKids.
The clinic is located at suite 940-525 University Avenue. Participants will be reimbursed for parking expenses if they have to attend additional appointments as part of the study.
If your child is eligible for the study and enrolled there is no charge. In some cases we may be able to reimburse you for out of pocket expenses incurred as a result of being in this study (This includes reasonable costs for meals, babysitters, parking and travel getting to and from Sick Kids). This will be explained to you when you scheduled your appointment.
A genome is the entire set of genes located in each cell of our body. The human genome contains over 25,000 genes and is the blueprint or instructions for all stages of development and function of the human body.
The process of Whole Genome Sequencing and result analysis will take approximately 4-6 months after blood samples have been collected. We will contact you once the results of the study are available. These results will be disclosed to you in 1-3 sequential appointments.
We will respect your privacy. No information about your identity will be given to anyone outside of the study investigators or be published without your permission, unless required by law; for example, if you have a condition that could spread to others or if the court orders us to give them the study papers.
SickKids Clinical Research Monitors, or members of the research team may see your health record to check on the study. The data produced from this study will be stored in a secure, locked location. Only members of the research team (including the individuals described above) will have access to the data. Published study results will not reveal your identity.
The data collected from you will be kept strictly confidential. Confidentiality will be maintained at all times by assigning number codes rather than names to the patient’s genetic material. The code will be kept in locked files and available only to study investigators. No information that reveals your child’s identity will be released or published without your consent.
If you agree, the genetic material taken from your child’s blood and your genome sequence will be stored indefinitely with the number codes (unless otherwise indicated), so future genetic research studies can be conducted which may or may not be related to your child’s condition.
Any results reported to you by the study will be placed in your child (and your records). If you apply for insurance and provide written consent, the information in your child’s medical records, including the results of any clinically validated genetic testing obtained through this research study, will be available to the company.
Yes, you may withdraw from the study at any point before results are disclosed to you.
The genome clinic is utilizing a new type of genetic testing, called whole genome sequencing (WGS). WGS offers many possible advantages over standard genetic testing, and by enrolling children who have a yet undiagnosed genetic condition, we hope to find out if this new testing will help find a cause for your child’s illness and benefit other patients with similar conditions. We are hoping this new testing may also lead us to better information about prognosis and treatment.