PhenomeCentral Consent Form for Adults and Capable Minors
Title of Research Project:
PhenomeCentral: A portal for phenotypic and genotypic matchmaking for patients with rare genetic
disorders
Investigator(s):Michael Brudno, PhD
Senior Scientist, Genetics & Genome Biology,
Director, Centre for Computational Medicine,
Hospital for Sick Children Research Institute
Associate Professor, Department of Computer Science, University of Toronto

416-813-7654
ext. 308179

Kym Boycott, MD
Senior Scientist, CHEO Research Institute
Clinical Geneticist, Department of Genetics, CHEO
Associate Professor Department of Pediatrics, Faculty of Medicine, Universityof Ottawa

613-737-7600
ext.4139

Research Contact:
Brittney Johnstone, MSc, CGC, CCGC
Genetic Counsellor, The Centre for Computational Medicine,
The Hospital for Sick Children

416-813-7654
ext. 414028

Sponsorship:
This research is funded by the Canadian Institutes of Health Research (CIHR), the Natural Sciences andEngineering Research Council of Canada (NSERC), Genome Canada and the Canadian Care for Rare Fund.
Conflict of Interest:
Dr. Brudno and the other research team members have no conflict of interest to declare.
Purpose of the research:
You are being asked to consider participating in this study because you have an undiagnosed genetic
condition. PhenomeCentral is a secure database, developed, stored and managed at the Hospital for Sick
Children by the Centre for Computational Medicine. PhenomeCentral is a database for scientists andhealth care providers, at the Hospital for Sick Children and internationally, to securely store clinical andPage 1 of 9Consent Form Version 9 Date 14 June 2018

genetic information on individuals with rare genetic disorders. PhenomeCentral searches in the databasefor individuals with similar clinical symptoms and/or genetic variants (also referred to as a “match”) andconnects the scientists/health care providers caring for these individuals. PhenomeCentral aims to:1)   Help health care providers arrive at a faster diagnosis of individuals with undiagnosed rare
genetic disorders2)   Facilitate any ongoing or new research on the study of genes that affect human development andhealth in order to improve diagnosis, management and treatment of rare diseases
Finding a match may enable scientists and/or clinicians to carry out research to attempt to determine if
there is a shared genetic diagnosis for the two “matched” individuals. This may lead to improved
management, therapy, and understanding of the disorder.
As PhenomeCentral begins to find matches and diagnoses for individuals, the database will begin to store
information about individuals with diagnosed (known) disorders. As an individual with an undiagnosed
genetic disorder, you may match with an individual with a known disorder. Through consultation withyour clinician, this may help establish a diagnosis or a previously described genetic disorder in yourself,
which may lead to a better understanding of the cause of the disorder, natural history (typical course of
disease), prognosis, and the appropriate management, treatments or therapies.
Description of the research:
If you consent to be part of this study, your treating clinician/researcher will gather clinical information
about your medical condition that has been obtained during standard clinical appointments (today and in
the past) with your treating clinician. This may include medical history information, family history
information, physical examinations, and reviewing your medical records relevant to your undiagnosed
genetic condition. This may also include results of genetic tests that have been ordered as part of yourstandard clinical care. PhenomeCentral only stores information, it does not store physical samples suchas blood, DNA or tissue. You will choose the types of information that are included in the database(Please see the Participation section). You will not be asked to have any additional tests or examinations,or provide any additional information for PhenomeCentral outside of what has already been obtained
through your standard clinical appointments.
If there are new clinical findings or genetic information that are learned during a clinical visit after thedate on which you provide consent, and your condition remains undiagnosed, your treating
clinician/researcher may add it to PhenomeCentral if it is relevant to your undiagnosed condition.
With your consent, your treating clinician/researcher will send (upload your information) to the
PhenomeCentral database. PhenomeCentral is password protected. Your information will be storedindividually and identified only by a unique ID assigned to you. This means that all your information
available on the database will be de-identified and cannot be linked back to you, except by your treating
clinician/researcher. Study team members at SickKids will not be able to link any information back toyou.
PhenomeCentral is part of the Matchmaker Exchange, which is a connected group of restricted accessdatabases containing de-identified genetic and medical information on patients with rare conditions. The
Matchmaker Exchange aims to find matches and diagnoses for individuals and aid in the discovery of rare
disorders. With more databases participating in matching, the chances for a match are increased. You candecide if you would like your information to be shared within PhenomeCentral only or more broadly with
the Matchmaker Exchange. Use of Medical Photographs: Pictures may sometimes be a useful tool for
diagnosing conditions. As part of this study, you are being asked to provide consent for the study team toConsent Form Version 9 Date 14 June 2018

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access any medical photographs taken of you by your treating doctor and stored in your SickKids medical
records and upload them on to PhenomeCentral. If your treating clinician has taken photographs of youthat show features of your undiagnosed condition, you may choose to allow these to be included in the
database. The pictures may include unique features which may identify you. It may also include picturesof your face. This part of the study is voluntary.
You may also be asked by the study team to consent to have new pictures taken of features of yourcondition. This is also voluntary. You will be asked to indicate your choice about allowing the use of yourpictures on PhenomeCentral
If you provide consent now, you have the option to withdraw your consent later. Note that you can only
withdraw stored pictures from the database. Any pictures which have been shared cannot be withdrawn.
Your treating clinician/researcher will have access to PhenomeCentral by reading and agreeing to theTerms and Conditions of PhenomeCentral. You may request a copy of the Terms and Conditions if you
wish to review them before completing the consent process.
PhenomeCentral compares your clinical and genetic information with other individuals entered in the
database. Potential matches are presented to the clinician/researcher with the similarities and differences
highlighted and a form to contact the other clinician/researcher. It is the responsibility of theclinician/researcher enrolling you in this study to communicate with the clinician/research they havematched with to determine if the match is real. It is the responsibility of the clinician/researcher enrollingyou in this study to notify you if a real match is found.
If, at a later date, a new individual is entered into the database that matches with you PhenomeCentral will
make available the contact information of your clinician/researcher to facilitate communication andevaluation of the match. Your clinical and genetic information will be revealed so that yourclinician/research can determine if the match is real. It is the responsibility of the clinician/researcher
enrolling you in this study to notify you if a real match is found. PhenomeCentral is not responsible forcontacting clinicians/researchers or patients. As a patient you are not able to search PhenomeCentral tolook for matches.
If a potential match is found, the clinician/scientist enrolling you in this study may wish to re-contact you
to notify you of the match, obtain more information about your condition, and/or notify you about
possible research opportunities.
If you receive a diagnosis for your previously undiagnosed medical condition, either through a match
made on PhenomeCentral, or other methods, this information will be added to PhenomeCentral.
Members of the SickKids study team may monitor the data in PhenomeCentral to track usage and for
quality improvement. When discussing PhenomeCentral with other researchers, colleagues, atconferences or in publications, the SickKids study team will group together data such that no one
individual is identifiable.
Potential harms, discomforts or inconveniences:
Given the nature of rare disorders, there is a possibility that other users will be able to link yourPhenomeCentral record to your true identity based on the rare and unique pieces of information listed
about you in the database.

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Despite the mechanisms in place to keep all information secure and to protect your privacy, there remains
a risk of privacy breach. If a privacy breach occurs, PhenomeCentral will contact your treating
clinician/researcher to inform them of the breach and explain what data may have been compromised. It is
the responsibility of your treating clinician/researcher to pass this information on to you.
We know of no other harm, discomfort or inconvenience that taking part in this study could cause you.
Potential benefits:
To you:Placing your clinical and genetic information in PhenomeCentral may lead to the identification of a match
between you and another individual in the database with very similar symptoms or genetic findings.
Through consultation with your clinician/researcher, this may help establish a diagnosis for you. This
may lead to improved management, therapy, and understanding of your condition.
To society:PhenomeCentral’s main aim is to benefit the individuals participating in the study to find a diagnosis fortheir rare genetic disorder. However, the information collected in PhenomeCentral also facilitates research
into the study of genes that affect human development and health, may improve diagnosis, management
and therapy of rare diseases, and provide insights on rare disease and rare disease research on aninternational scale.
Confidentiality:
How will your privacy be protected?
We will respect your privacy. The CIHR, NSERC, GenomeCanada and the Canada Care for Rare Fund isalso committed to respecting your privacy. No information about who you are will be given to anyone or
be published without your permission, unless the law requires us to do this.
Your treating clinician/researcher will collect personal health information about you. This includes things
learned from the study procedures described in this consent form and/or information from your medical
records. They will only collect the information they need for the study. The study may also collectpersonal information that could identify you such as:●   Year of birth●   Existing medical records, that includes types, dates and results of medical tests or procedures or
genetic testing
You have the right to access, review and request changes to your personal health information
All personal health information or personal information collected about you will be “de-identified” byreplacing your identifiable information with a “study number”. Your treating clinician/researcher is incontrol of the study code key, which is needed to connect your personal health information. The link
between the study number and your identity will be safeguarded by your treating clinician/researcher will
not be available to SickKids study members (Primary Investigators, research coordinators, softwaredevelopers, data analysts), CIHR, NSERC, GenomeCanada or the Canada Care for Rare fund. SickKids
guidelines include the following:▪   All information that identifies you, both paper copy and electronic information, will be kept
confidential and stored and locked in a secure place that only your treating clinician/researcher
will be able to access.
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▪  
▪  

Electronic files will be stored securely on hospital or institutional networks or securely on any
portable electronic devices.
No information identifying you will be allowed off site in any form. Examples include yourhospital or clinic charts, copies of any part of your charts, or notes made from your charts.

Your treating clinician/researcher, the study staff and the other people listed above will keep theinformation they see or receive about you confidential, to the extent permitted by applicable laws. Even
though the risk of identifying you from the study data is very small, it can never be completely
eliminated.
The following people may come to the hospital to look at your personal health information to check thatthe information collected for the study is correct and to make sure the study followed the required laws
and guidelines:•  CIHR, NSERC, GenomeCanada and the Canada Care for Rare Fund
•  Representatives of the SickKids Research Ethics Board and/or Research Quality and Risk
Management team;Access to your personal health information will take place under the supervision of your treating
clinician/researcher.
Your treating clinician/researcher will keep any personal health information about you in a secure andconfidential location for a duration in accordance with regulations of the institution for which yourtreating clinician researcher works
Your de-identified data will remain in PhenomeCentral indefinitely but you have the choice to have yourinformation taken out of the study. You will need to contact the Principal Investigator or study teammember to let them know. Any information that has already been shared with researchers outside of
SickKids cannot be withdrawn.
When the results of this study are published, your identity will not be disclosed. You have the right to be
informed of the results of this study once the entire study is complete.
Your health information from this research project study will be sent to other countries but youridentifiers will be removed. They will not be able to identify you.
Your participation in this study may be noted in your hospital or clinic chart. This is recommended toensure your safety so that any treating physician will know that you are participating in a research study.
It is possible that a commercial product (i.e. device, pharmaceutical) may be developed as a result of thisstudy. You will have no right to any products that may be created as a result of this study or any future
research studies. You will not receive royalties from any products that may be created as a result of thisstudy or any future research studies.
Medical photography confidentiality:
If you have had medical photographs taken during one of your standard clinical appointments, your treating
clinician/researcher may upload them to PhenomeCentral only with your consent. They will remain on
PhenomeCentral indefinitely unless you withdraw your consent for the study or specifically choose to take out
your pictures from the database. Only members of the research team (and maybe the SickKids monitor, or
employees of the companies sponsoring the study or the regulator eg., CIHR) will have access to them.
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Reimbursement:
You will not be paid to be part of this study.
Participation:
It is your choice to take part in this study. You can stop at any time. The care you get at SickKids will not
be affected in any way by whether you take part in this study.
Please indicate the types of information that you will allow the clinician/research to enter into
PhenomeCentral.
Yes No☐ ☐ Year and month of birth☐ ☐ Clinical symptoms and medical history☐ ☐ Measurements such as height, weight, head circumference, etc.
☐ ☐ Family history☐ ☐ Data from any available genetic tests done including whole-exome sequencing or whole-genome
sequencing☐ ☐ Medical photographs, which may include unique (and therefore potentially identifying) features ofyour condition. If you consent to have photographs of you face included in PhenomeCentral,please write your initials and date. After the image is shared on PhenomeCentral, it cannot be
withdrawn from the clinician/researcher.
☐ ☐ Diagnosis (if one is discovered in the future), including genetic mutation/variant and name ofdisorder__________________ Initials _______________________Date
Permission to share information within the Matchmaker Exchange
Sharing information with the Matchmaker Exchange is voluntary. You can decide if you would like yourinformation to be shared within PhenomeCentral only or more broadly with the network of databases
called the Matchmaker Exchange.
☐ I give permission for my information to be shared with the Matchmaker Exchange.
__________________ Initials _______________________Date☐ I do not give permission for my information to be shared with the Matchmaker Exchange.
__________________ Initials _______________________Date
Permission to Re-contact:
If a potential match is found, the clinician/scientist enrolling you in this study may wish to re-contact you
to notify you of the match, obtain more information about your condition, and/or notify you about
possible research opportunities. Please indicate your preferences for re-contact.

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Page 6 of 9☐ I give permission to be re-contacted if a potential match is found.

_______Initials ______Date☐ I do not give permission to be re-contacted to discuss a potential match. _______Initials _______Date
New information that we get while we are doing this study may affect your decision to take part in thisstudy. If this happens, we will tell you about this new information. And we will ask you again if you stillwant to be in the study.
During this study, we may create new tests, new medicines, or other things that may be worth somemoney. Although we may make money from these findings, we cannot give you any of this money now
or in the future because you took part in this study.
Your signing this consent form does not interfere with your legal rights in any way. The staff of the study,
any people who gave money for the study, or the hospital are still responsible, legally and professionally,
for what they do.

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Study Consent:
By signing this form, I agree that:1)  You have explained this study to me. You have answered all my questions.
2)  You have explained the possible harms and benefits (if any) of this study.
3)  I know what I could do instead of taking part in this study. I understand that I have the rightnot to take part in the study and the right to stop at any time.
4)  My decision about taking part in the study will not affect my health care at Sick Kids.
5)  I am free now, and in the future, to ask questions about the study.
6)  I have been told that my medical records will be kept private except as described to me.
7)  I understand that no information about who I am will be given to anyone or be publishedwithout first asking my permission.
8)  I agree, or consent, to take part in this study.

Printed Name of Subject

Subject’s signature & date

Printed Name of person who explained consent
consent & date

Signature of Person who explained_________________________________________________________________________
Printed Witness’ name (if the subject/legal guardianWitness’ signature & datedoes not read English)

Photography consent
1.   I am aware that the use of medical pictures from my file is voluntary.
2.   I am aware that agreeing to be photographed during this study is also optional.
3.   If I consent to the use of my new or stored pictures, These will be uploaded to PhenomeCentral
https://phenomecentral.org in my password protected record. The pictures will only be madevisible to other scientists and clinicians using PhenomeCentral to identify potential matches for mycondition.
4.   I understand that I have the right to refuse to take part in this study. I also have the right to withdraw
from this part of the study at any time. eg., before or even after the photographs are made. My
decision will not affect my health care at SickKids.
5.   In agreeing to the use of the photograph(s) for other purposes, I will be offered a chance to look at
the pictures which will be included in PhenomeCentral.
6.   I have the right to withdraw my permission for other uses of my pictures at any time.
7.   I am aware that if I decide to withdraw from the study, I can withdraw all my existing pictures from
PhenomeCentral, except those pictures which have already been shared with other researchers.
8.   I am free now, and in the future, to ask questions about the sharing pictures and picture taking.
9.   I have been told that my medical records will be kept private. You will give no one information
about me, unless the law requires you to.
10.   I understand that no information about me (including these pictures) will be given to anyone or be
published without first asking my permission.”
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Consent to Use Pictures in my Medical File for PhenomeCentral (please check your choice)□   I allow the use of any photos which are part of my medical file, including any photos of myface□   I allow the use of any photos which are part of my medical file, excluding any photos of myface□   I do not allow the use of any photos which are part of my medical file to be uploaded to
PhenomeCentral.
____________________Initials __________________________Date
Consent for New Pictures to be taken and uploaded to Phenome Central (please check your choice)□   I allow the study team to take pictures of me for the database, including any photos of myface□   I allow the study team to take pictures of me for the database, excluding any photos of myface.
□   I do not allow the study team to take pictures of me for the database.
____________________Initials __________________________Date
Printed Name of Subject_________________________________
Subject’s signature & date

Printed Name of person who explained consent_________________________________
Signature & date_________________________________________________________________________
Printed Witness’ name (subject does not read
Witness’ signature & dateEnglish)If you have any questions about this study, please call Brittney Johnstone at 416-813-7654 ext. 414028
If you have questions about your rights as a subject in a study please call the Research Ethics Manager at
416-813-5718.

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