OurGenes Study

OurGenes is a research study led by the Princess Margaret Cancer Centre at the University Health Network (UHN) in partnership with Helix. The aim of the study is to learn how genes and DNA can affect your health by offering genetic screening to a large population. This information may help UHN improve personalized (tailored) health care. This information will also support new research breakthroughs. ​​

OurGenes aims to enroll 100,000 UHN patients who:

• Are a UHN patient, or have ever been treated at UHN
• Are 18 years or older
• Have never had a stem cell or bone marrow transplant with cells from a donor (allogeneic)
• Do not have an active hematologic (blood) cancer or condition, such as leukemia, lymphoma, myelodysplastic syndrome (MDS), or myeloproliferative neoplasm (MPN) (Note: If you do have a history of one of these conditions, you are still eligible to join the study if you have completed treatment and are in remission.)
  

You can still participate in this study even if you've had genetic testing in the past. The testing offered through this study has limitations and is not intended to replace more comprehensive clinical testing ordered by your health care provider.

OurGenes is a joint effort between The Princess Margaret Cancer Centre at UHN and Helix:

• The Princess Margaret Cancer Centre at UHN: UHN is Canada's No. 1 hospital and the world's No. 1 publicly funded hospital. With 10 sites and more than 20,000 staff, UHN consists of Princess Margaret Cancer Centre, Toronto General Hospital, Toronto Western Hospital, Toronto Rehabilitation Institute, The Michener Institute of Education at UHN and West Park Healthcare Centre. Princess Margaret Cancer Centre is the largest comprehensive cancer centre in Canada.
• Helix: Helix is a US-based partner in the OurGenes Study with UHN and a leader in population genomics.

• Genetic sequencing results
• Demographic information for enrollment purposes
• All your medical information from your UHN health record from today and ongoing for ten years. Your name will be removed and labelled with a code. This information will be kept forever by Helix for future research purposes.

The Helix Research Network, based in the US, is a network of collaborating health care institutions, such as UHN, that create and offer health research programs to members of their community. OurGenes, conducted at UHN, is one such study within the Helix Research Network.

Researchers will use your genetic and health information to study a wide range of questions about how genes and DNA can affect health. Helix hosts the research program databases. These databases will be used for future studies by Helix, UHN, other members of the Helix Research Network, and third parties.

For more information on third parties, please refer to the 'Who else may use my Helix Research Network information?' subsection of the 'Privacy and Data Protection' section of the FAQs. Any third-party use of UHN patient data for future research studies will first be approved by UHN and by Helix.

No. The genetic screening is offered at no cost as part of your participation in this research study.

The study is voluntary. This means you choose if you want to take part in the study or not. Your health care at UHN will not be affected by your decision to participate or not. You can leave the study at any time.

Depending on your personal and family history, there may be other clinical genetic testing options available to you. You can speak with your health care provider to request a referral to a genetics clinic to learn more. For a personal and/or family history of cancer, a referral can be sent to the Bhalwani Familial Cancer Clinic at Princess Margaret Cancer Centre (UHN). For a personal and/or family history of other hereditary conditions, a referral can be sent to the Fred A Litwin Family Centre in Genetic Medicine at UHN. A list of all genetics clinics in Ontario is also available here.

The testing offered through this study has limitations and is not intended to replace more comprehensive clinical testing ordered by your health care provider. If you have a family history of cancer or high cholesterol, please speak with your health care provider about your options for genetic testing as well as the results provided by the OurGenes Study.

You can sign up online from anywhere. To take part in the OurGenes Study, you will need to confirm your identity by logging into your myUHN account. Once you log in, you will be redirected to the Helix consent platform. You will first need to answer a few questions to confirm you are eligible to participate in the study.

You will then be able to read and sign the OurGenes research consent form. The consent form ensures you understand what participating in the study involves. After you sign the consent form, you will get an email that confirms the study team has received your informed consent. We take great care to keep your information safe and secure and will not share personal data beyond what you have consented to.

Follow these steps to sign up:

1. To sign up, click on the 'Get Started Now' button at the bottom of this page. This button will prompt you to log in to your myUHN Patient Portal. For technical support on using myUHN Patient Portal, please contact myUHN Support by email myUHN@uhn.ca or phone 416 340 3777.
2. After you log into your myUHN Patient Portal, you will need to answer some questions to check your eligibility. Please also note that once you log into myUHN, some of your information will be shared with Helix to assist with the enrollment process.
3. If you are eligible, you must carefully read the research consent form. If you have any questions about the study or the consent form, you can contact a member of the OurGenes study team by phone at 437 676 3576 or email at OurGenes@uhn.ca.
4. You will sign the consent form after:
   • You have fully read the consent form and
   • If needed, any/all your questions have been answered by a study team member

Upon completion, you will have the opportunity to download your signed consent form and receive a copy by email for your records. The form will also be saved in your medical record.

If you would like to review the contents of the consent form before deciding to follow the steps outlined above, you can click HERE to download a copy. Please note that signing and returning this form to the study team will not enroll you into the OurGenes Study. If you would like to join the OurGenes Study, please follow the steps above.

If you have any questions regarding the consent form or you would like to discuss in-person consenting options, please reach out to the OurGenes study team via email at OurGenes@uhn.ca or by phone at 437 676 3576.

The study consent form is a document that includes an overview of the OurGenes Study, the risks and benefits of participating, your rights as a participant, as well as other important details. This form must be reviewed and signed by you as part of the enrollment process in order to participate in OurGenes. This consent process can be initiated by clicking the ‘Get Started’ button at the bottom of this page.

If you would like to view a copy of the consent form prior to starting this consent process, or would like to download and/or print a copy of this form to review, please click HERE. Please do not sign or return this copy of the consent form; doing so will not enroll you into the OurGenes Study. To enroll, you must either complete the consent process electronically by clicking the ‘Get Started’ button below or contact the study team to arrange in-person enrollment.

If you have any questions regarding the consent form, or you would like to discuss in-person consenting options, please reach out to the OurGenes study team by email at OurGenes@uhn.ca or by phone at 437 676 3576.

A web-based consent process is available for enrolling in the OurGenes Study by clicking the 'Get Started' button at the bottom of this page. If you require or prefer an alternative to this process, please contact the study team at OurGenes@uhn.ca or 437 676 3576. Our study team will be happy to discuss other enrollment options with you, including paper-based consent in an in-person setting.

You will get a message in your myUHN Patient Portal with detailed instructions on how to provide your blood sample.

You can provide a blood sample at any University Health Network lab. This includes blood labs at the following hospitals:

• Princess Margaret Cancer Centre
• Toronto General Hospital
• Toronto Western Hospital

You will get more information about how to provide your blood sample after you sign the consent form. After you provide consent, you will have up to 6 months to provide a sample.

• You do not need to do anything special to prepare for the blood sample (for example, you do not need to fast)
• Make sure to bring your health card or other government-issued ID to the appointment
• Plan for about 15 minutes for the test, plus any extra wait time at the lab​​
  ​
  ​
  ​
  

UHN will ship your blood sample to our partners at Helix in San Diego, California. Once Helix receives your blood sample, they will complete DNA sequencing. DNA sequencing is a method to figure out how our genes work. DNA sequencing looks at the genetic information within our DNA or an entire set of genes in our DNA.

In addition to providing you your genetic screening results, your genetic data and personal health information from UHN will be provided to Helix on an ongoing basis for ten years. This data will be stored in a database hosted by Helix and will be used to contribute to future research aimed at advancing our understanding of genetics and improving health care. Results from this future research will not be returned to you.

If you received a bone marrow or stem cell transplant, UHN suggests that you do not take part in this study.

This study tests DNA from cells in your blood sample. Often, it is your bone marrow or your stem cells that create these cells. If you have had a bone marrow or stem cell transplant from a donor, your DNA and the DNA of your donor may be in your sample. Therefore, the screening results may be for your donor’s DNA and not yours, or the results may not be clear/accurate.

Note: If you have previously donated bone marrow or stem cells, this would not affect your genetic test results.

Alternatively, if you have an active hematologic (blood) condition such as leukemia, your test result may not be accurate. These conditions can mix cancer DNA with normal DNA in your blood. This can cause the genetic screening results to be inaccurate. (Note: If you do have a history of one of these conditions, you are still eligible to join the study if you have completed treatment and are in remission.)

If you have any questions about your eligibility, please contact the study team at OurGenes@uhn.ca.

You can withdraw (leave) the study at any time. Your choice to withdraw will not affect your health care in any way.

To withdraw, please send an email to the OurGenes study team at OurGenes@uhn.ca. You can specify if you would like to withdraw from any ongoing participation and/or withdraw any past data and samples that were shared with Helix and stored in the US-based Helix Research Network (HRN) database. The study team will then reach out to Helix to process the withdrawal request.

After your withdrawal request, the study team will stop sharing updates about your personal health information with Helix. If you have requested the deletion of your samples and data from the HRN database, this process may take up to 30 days from the date of the request and you will be informed once the process is complete. Data stored in the HRN database is used to conduct research aimed at improving health care by bettering our understanding of genetics. If you withdraw your data from the HRN database, your data will continue to be used by ongoing or completed research studies but will not be used by future studies.

If you withdraw from the study, you will no longer receive emails or other communication about the study. Any information already added to your medical record will remain there (for example, your genetic screening results and signed consent form). However, no new information from the study will go into your medical record. If you withdraw from the study, it will be noted in your medical record that you are no longer taking part in the study.

If you have chosen to create a Helix Account and wish to delete this, you can reach out to Helix via email at support@helix.com. If you withdraw from the OurGenes Study, you will still be able to see data that was shared with Helix before your withdrawal through the optional Helix Account. If you request to delete all of your data from the HRN database, you will no longer see any of your data through this account.​​​​​​​​​

Yes. You will get your results in the UHN Test Results section in your myUHN Patient Portal.

Your results will show if you have inherited certain risk factors in your genes. Inherited risk factors are passed down from parent to child. Your family history alone, and standard medical tests, do not always identify risks for these conditions.

The screening results will tell you about your genetic risk for three inherited conditions. The study screens for these three conditions because they can occur in the general population and are treatable. If you have an increased risk for one of these conditions, you and your health care providers can take action to reduce or address your health risks.

• Hereditary breast and ovarian cancer (HBOC): The most common cause of hereditary breast cancer is an inherited mutation (change) in the BRCA1 or BRCA2 genes. Other cancer types related to these genes include:
  • Prostate
  • Pancreatic
  • Melanoma (skin cancer)
• Hereditary colon cancer (Lynch syndrome): Lynch syndrome is the most common cause of hereditary colon cancer. People with Lynch syndrome are more likely to get colon cancer at a younger age. People with Lynch syndrome are also at increased risk for the following types of cancers:
  • Endometrial (the inner lining of the uterus)
  • Ovarian
  • Upper GI (gastrointestinal), for example, stomach cancer
  • Brain
  • Pancreatic
• Familial hypercholesterolemia (FH): FH is a hereditary form of very high cholesterol. Very high cholesterol increases your risk of early onset heart disease and heart attacks.

In addition to receiving your results through your myUHN Patient Portal, you have the option of viewing your genetic screening results through a Helix Account. After enrolling, you will receive further information on how to sign up for this optional Helix Account if you are interested. With this account, in addition to your screening results, you will receive additional information about:

• Your genetic regional ancestry (where your ancestors come from)
• How your genes may affect certain traits (for example, your sleep patterns or how your body reacts to caffeine)

Please note that these ancestry and traits results will be generated and stored by Helix regardless of whether you sign up for the Helix Account.

Around 1-2% (one to two people out of 100) will be found to have a risk for one of the inherited cancers or the heart condition included in this study.

If your results show you are at an increased risk for any of the conditions for which we offer screening (see 'How complete are my results?'), you will be offered an appointment with a health care provider or genetic counsellor at UHN. A genetic counsellor is a medical professional trained to help people understand the results of genetic testing. The genetic counsellor or health care provider will discuss your results and advise you on how to reduce your risk.

This genetic counsellor or health care provider may refer you to other specialists if needed.

You will get your results about your genetic risks 8-12 weeks after you give your blood sample. Normally, your Helix ancestry and traits results are ready within 8 weeks of the Helix lab receiving your sample. You will be able to view your ancestry and traits results if you have created a Helix Account. It may take another month before your health results are ready to view, as extra steps are taken to ensure your health results are accurate.

The genetic screening done for the OurGenes Study focuses on three conditions:

• Hereditary (inherited) breast and ovarian cancer (BRCA1 and BRCA2 genes)
• Hereditary (inherited) colon cancer (Lynch syndrome)
• Heart disease related to high cholesterol (hypercholesterolemia)

The study screens for these three conditions because they can occur in the general population and are treatable. If you have increased risk for one of these conditions, you and your health care providers can take action to reduce or address your health risks.

Note: The genetic screening done in the OurGenes Study does not look at all the possible risks linked to your genes. It does not replace other testing that is suggested by your health care team.

Talk to your health care provider if you have:

• Concerns about your risks
• Have a diagnosis for any of the conditions being tested

No. Sometimes the ancestry and traits may be different from what you would expect. This does not mean these results or your genetic screening results are wrong.

Ancestry and trait results are estimates based on DNA patterns. Because it is an estimate, it is not an exact result. These results give insights into a person's genetic origins. Genetic variants are different from person to person. It is these variants that make each of us unique. These genetic variants estimate the most likely ancestry or traits. Helix screening may not include all of the genetic variants (or differences) linked to a certain trait or ancestry.

Trait and ancestry results are different from the genetic screening results. Genetic screening looks for exact gene variants (or mutations). There is a lot of research from the field of medicine that links these exact gene variants to the risk for disease. Traits are often affected by many genes making it hard to predict exact results. Lastly, the environment or other factors can affect genetic traits. These factors can interact with your genes and add to differences between your traits, and the traits expected based on your DNA screening.

Note: You will only have access to ancestry and trait results if you choose to create an optional Helix Account.

This research study does not replace medical care or other medical tests that you and your family may need.

If you have a personal or family history of a condition covered by this screening, the results of the genetic screening done through the OurGenes Study do not change:

• A previous diagnosis, or
• Any family history of risk you might have

This is because there are other causes of cancer and high cholesterol that are not considered by this test. Other causes can include:

• Lifestyle
• Family history
• Environment
• Your medical history
• Other genetic conditions

Also, the genetic screening done by OurGenes does not:

• Assess all the genes linked with cancer and heart disease
• Identify all variants in the genes that were tested

You may want to speak with your health care provider about other relevant genetic testing that may be important for your health care.

If your genetic screening result is negative but you have already been diagnosed with one of the conditions included in the screening, please speak with your health care provider. Not all genes associated with these conditions are included in this test, and in some cases (for example, hypercholesterolemia), a genetic variant is not required to make a diagnosis or inform care. Your provider can help determine whether additional genetic testing or follow-up is recommended.

A result of "Test Not Performed" means your sample did not meet the standards needed to complete the DNA sequencing. Some issues may include:

• Problems when processing the sample (for example, not enough of a sample)
• Extracted DNA from the sample is low
• Errors with reads of the sample in the sequencing machine
• The sequencing data did not meet quality standards required to get results

Helix checks every sample at many stages for quality. A sample only gets a "Test Not Performed" result after it has failed multiple attempts at sequencing.

Most of these issues may be resolved by getting another sample. UHN encourages anyone who gets a TNP result to provide another sample. If a TNP result occurs again, there will be a review to decide on the next steps for getting a usable sample.​​​​​​

The Genetic Non-Discrimination Act (GNA) protects Canadians from discrimination based on your genetic data. This means that employers and/or insurance companies cannot request, access or use your genetic screening results to treat you unfairly.

Study teams outside of the Helix Research Network (i.e. third parties) may also have access to your coded information that is stored in the Helix Research Network (HRN). Coded information is data that has had personal identifiers (such as your name) removed and replaced with a code. This process helps protect your privacy, so no one can directly identify you from this data.

Your genetic data is unique to you and thus could be used to identify you. Helix has data control methods in place to minimize the risk of identifying participants through this data. These protections include strict protocols for accessing this data as well as technical protections to reduce the risk of data leaks.

Researchers from outside of the Helix Research Network (HRN) may request access to your coded information from the HRN database. Requests for access must be reviewed and approved by UHN and Helix. These researchers may work for many types of organizations, including:

• Health systems
• Universities
• Drug companies
• Other groups interested in research

UHN and Helix will carefully review and only approve studies that:

• Abide by ethical standards for studies of human beings
• Have measures in place to ensure your data is safe and secure
• Have measures to protect your privacy

Ethical standards are a set of values that are put in place to help ensure:

• The research has scientific value
• Respect for people taking part in the study
• The possible benefit is greater than possible harm to participants (people who take part in a study)
• There is a process for informed consent
• There is justice or fairness in choosing participants

UHN researchers may share what they discover from this study through their website and newsletters. This information will not directly identify you or any participant.

The UHN OurGenes study team has many safeguards in place to protect your personal information. These safeguards include:

• Limiting who is allowed to see information that could identify you, like your name or contact information
• Limiting and monitoring who can access your data
• Requiring that members of the study team who have access to your data are trained and certified to work with this type of research data

Your data (your genetic information and health records) will be stored in secure databases hosted by Helix in the United States. A team of Helix IT and security professionals will maintain and monitor the information stored through constant checks of the computer system. The system uses safeguards that meet, and in some cases exceed, privacy and cybersecurity best practices. Cybersecurity is the use of technology, processes, and controls to protect computer systems.

You can choose to withdraw and stop sharing your information at any time.

For questions about the study, you can contact the OurGenes study team at OurGenes@uhn.ca or 437 676 3576.

For questions related to creating or accessing an optional Helix Account, please contact He​​lix customer support by phone, email or by filling out an online request:

• 844 430 0468
• support@helix.com
• Online form
  ​
  
  

OurGenes is a research study being done by University Health Network (UHN). The aim of the study is to learn how genes and DNA can affect your health. Through genetic screening, the program looks at how your genes could affect your health. This information may help UHN improve personalized (tailored) health care. This information will also support new research breakthroughs.

OurGenes aims to enroll 100,000 UHN patients who:

• Have UHN Medical Record Number (MRN)
• Are 18 years or older
• Have never had a stem cell or bone marrow transplant with cells from a donor (allogeneic)
• Do not have an active hematologic (blood) cancer or condition, such as leukemia, lymphoma, myelodysplastic syndrome (MDS), or myeloproliferative neoplasm (MPN)

OurGenes is a joint effort between:

• University Health Network (UHN): UHN is Canada's #1 hospital and the world's #1 publicly funded hospital. With 10 sites and more than 20,000 staff, UHN consists of Princess Margaret Cancer Centre, Toronto General Hospital, Toronto Western Hospital, Toronto Rehabilitation Institute, The Michener Institute of Education at UHN and West Park Healthcare Centre.
• Helix: Helix is a partner in the study with UHN and a leader in population genomics.

No. The genetic screening is provided at no cost.

No. The study is voluntary. This means you choose if you want to take part in the study or not. Your health care at UHN will not be affected by what you choose. You can leave the study at any time.

You can sign up online from home. To take part, you will need to confirm your identity by logging into your MyUHN account. Once you log in, you will need to answer a few questions to confirm you are eligible to take part in the study.

You will then be able to read and sign the OurGenes research consent form hosted on the Helix platform. The consent form ensures you understand what taking part in the study involves. After you sign the consent form, you will get an email that confirms the study team has received your informed consent.

1. To sign up, log into your MyUHN account. For technical support on using MyUHN patient portal, please contact myUHN@uhn.ca
2. After you log into your myUHN account, you will need to answer some questions to see if you are eligible.
3. If you are eligible, the next step is to carefully read the research consent form. If you have any questions about the study or the form, you can contact a member of the OurGenes study team by phone at 647 289 1491 or email at OurGenes@uhn.ca.
4. You will sign the consent form after:
   • You have read the consent form, and
   • If needed, all of your questions have been answered by a study team member
   You will get a copy of your signed consent for your records by email. You can also find the form in your medical record.
5. You will get a MyChart message on how to provide your blood sample at a University Health Network lab.
6. You will also get information to sign up for a Helix Account if you wish. With this account, you will get access to:
   • Your genetic screening results
   • Information about your genetic regional ancestry (where your ancestors come from)
   • Information on how your genes may affect certain traits, such as your sleep patterns or how your body reacts to caffeine

You can provide a blood sample at any UHN blood lab. This includes blood labs at these hospitals:

• Princess Margaret Cancer Centre
• Toronto General Hospital
• Toronto Western Hospital

You will get more information about how to provide your blood sample after you sign the consent form.

University Health Network (UHN) will ship your blood sample to Helix. Once Helix gets your blood sample, they will complete DNA sequencing. DNA sequencing is a method to figure out how our genes work. DNA sequencing looks at the genetic information within pieces of DNA or an entire set of genes.

If you received a bone marrow or stem cell transplant, UHN suggests that you do not take part in this study.

This study tests DNA from cells in your blood sample. Often, it is your bone marrow or your stem cells that create these cells. If you have had a bone marrow or stem cell transplant from a donor, your DNA and the DNA of your donor may be in your sample. Test results may be for your donor’s DNA and not yours, or the results may not be clear.

If you gave bone marrow or stem cells (as a donor), this would not affect your genetic test results. You would be eligible for this study as your DNA would solely be your own.

Also, if you have an active hematologic (blood) condition such as leukemia, your test result may not be accurate.

If you have any questions about your eligibility, please contact the study team at OurGenes@uhn.ca.

You can withdraw (leave) the study at any time. Your choice to withdraw will not affect your health care in any way.

To withdraw, please send an email to the OurGenes study team OurGenes@uhn.ca.

The study team will then reach out to Helix to process the withdrawal request. You can also request the deletion of your samples and data from the Helix Research Network (HRN) database. Helix will delete all linked data, though it may take some time. This won’t affect your withdrawal from the study, and you’ll be informed once the process is complete.

If you withdraw from the study, you will no longer receive any emails or other communication as part of the study. Any information already added to your medical record will remain in your medical record (for example, your genetic screening results and signed consent). However, no new information from the study will go into your medical record. If you withdraw from the study, it will be noted in your medical record that you are no longer taking part in the study.

Whether or not you choose to take part in this study, it will not affect your health care at UHN in any way. You must provide a blood sample to:

• Receive any genetic screening results, and
• Be part of the OurGenes Research Program

You have up to 6 months to provide a sample if you change your mind. During this time, you can still choose to take part if you provide a blood sample.

• You do not need to do anything special to prepare for the blood test (for example, you do not need to fast).
• Make sure to bring your health card or other government-issued ID to the appointment.
• Plan for about 15 minutes for the test, plus any extra wait time at the lab.
• Do not provide a sample within 30 days of a blood transfusion. A transfusion can affect how accurate the test results will be.

Yes. You will get your results through MyUHN. If you do not have a MyUHN account, you will get a copy of your results by mail. If you have a Helix Account, you can also find the results there.

Your results will show if you have inherited certain risk factors in your genes. Inherited risk factors are passed down from parent to child. Your family history alone, and standard medical screening tests, do not always identify risks for these conditions.

The test will tell you about your genetic risk for 3 inherited conditions. The study screens for these 3 conditions because they occur often in the general population. If you have increased risk for one of these conditions, you and your healthcare providers can take action to reduce or address your health risks.

• Heart disease related to high cholesterol (familial hypercholesterolemia)
  Familial hypercholesterolemia (FH): A hereditary form of very high cholesterol. Very high cholesterol increases your risk of early onset heart disease and heart attacks.
• Hereditary (inherited) breast and ovarian cancer (BRCA1 and BRCA2)
  Hereditary breast and ovarian cancer (HBOC): The most common cause of hereditary breast cancer is an inherited mutation (change) in the BRCA1 or BRCA2 gene. Other cancers related to these genes include prostate, pancreatic and melanoma (skin cancer).
• Hereditary (inherited) colon cancer (Lynch syndrome)
  Hereditary colon cancer (Lynch syndrome): Lynch syndrome is the most common cause of hereditary colon cancer. People with Lynch syndrome are more likely to get colon cancer at a younger age. People with Lynch syndromeare also at increased risk for these cancers: endometrial (the inner lining of the uterus), ovarian, upper gastrointestinal (for example, stomach cancer), brain and pancreatic.

If you choose to sign up for a Helix Account, you will get information about:

• Your genetic regional ancestry (where your ancestors come from)
• How your genes may affect certain traits, for example, your sleep patterns or how your body reacts to caffeine

Around 1-2% (one to two people out of 100) will be found to have a risk for one of the inherited cancers or the heart condition included in this study.

If your results show you are at an increased risk for any of these conditions, you will be offered an appointment with a doctor or genetic counsellor at UHN. A genetic counsellor is a medical professional trained to help people understand the results of genetic testing. The genetic counsellor or doctor will discuss your results and advise you on how to reduce your risk.

This genetic counsellor or doctor may refer you to other specialists if needed.

You will get your results about your genetic risks 8-12 weeks after you give your blood sample. Normally, your Helix Ancestry and Traits results are ready within 8 weeks of the Helix lab receiving your sample. You will be able to view your Ancestry and Traits results if you have created a Helix account. It may take another month before your health results are ready to view, as extra steps are taken to ensure your health results are accurate.

The genetic screening done for the OurGenes Research Program focuses on three conditions:

• Heart disease related to high cholesterol (familial hypercholesterolemia)
• Hereditary (inherited) breast and ovarian cancer (BRCA1 and BRCA2)
• Hereditary (inherited) colon cancer (Lynch syndrome)

The study screens for these three conditions because they occur often in the general population. If you have increased risk for one of these conditions, you and your healthcare providers can take action to reduce or address your health risks.

Note: The genetic screening done in the OurGenes study does not look at all the possible risks linked to your genes. It does not replace other testing that is suggested by your doctor.

Talk to your doctor if you have:

• Concerns about your risks
• Have a diagnosis for any of the conditions being tested

No. Sometimes the ancestry and traits may be different from what you would expect. This does not mean these results or your genetic screening results are wrong.

Ancestry and trait results are estimates based on DNA patterns. Because it is an estimate, it is not an exact result. These results give insights into a person's genetic origins. Genetic variants are different from person to person. It is these variants that make each of us unique. These genetic variants estimate the most likely ancestry or traits. Helix screening may not include all of the genetic variants (or differences) linked to a certain trait or ancestry.

Trait and ancestry results are different from the genetic screening results. Genetic screening looks for exact gene variants (or mutations). There is a lot of research from the field of medicine that links these exact gene variants to the risk for disease.

Also, traits are often affected by many genes making it hard to predict exact results. Lastly, the environment or other factors can affect genetic traits. These factors can interact with your genes and add to differences between your traits, and the traits expected based on your DNA screening.

This research study does not take the place of medical care or other medical tests that you and your family may need.

If you have a personal or family history of a condition covered by this test, the results do not change:

• A previous diagnosis, or
• Any family history of risk you might have

This is because there are other causes of cancer and high cholesterol that were not part of this test. Other causes can include:

• Lifestyle
• Family history
• Environment
• Your medical history
• Other genetic conditions

Also, the screening test done by OurGenes does not:

• Assess all the genes linked with cancer and heart disease
• Identify all variants in the genes that were tested

You may want to speak with your healthcare provider or a genetic counsellor about the results. A genetic counsellor is a medical professional trained to help people understand the results of genetic testing.

Speak with your health care provider if you have:

• Negative genetic screening (no increased risk), and
• A diagnosis of one of the conditions screened for by this test

You and your health care provider can discuss whether you should have a genetics consult to decide if you need:

• Extra genetic screening, or
• Other screening tests

A result of "test not performed" means your sample did not meet the standards needed to complete the DNA sequencing. Some examples of this may include issues when the lab:

• Processes the sample (for example, not enough of a sample)
• Extracts DNA from the sample
• Reads the sample in the sequencing machine
• The sequencing data not being of high enough quality to get results

Helix checks every sample at many stages for quality. A sample only gets a "Test Not Performed" result after it has failed multiple attempts at sequencing.

Most of these issues may be resolved by getting another sample. UHN encourages anyone who gets a TNP result to provide another sample. If a TNP result occurs again, there will be a review to decide on the next steps for getting a usable sample.

There is a law in Canada called the Genetic Non-Discrimination Act (GNA). This means that employers or insurance companies cannot request, access or use your genetic test results to treat you unfairly (discriminate).

Researchers will use your genetic information to study a wide range of questions about how genes and DNA can affect health. The databases created in this research program are hosted by Helix and will be used for future studies by our genomics partner Helix, UHN, and by other members of the Helix Research Network.

The Helix Research Network is a network of health systems that create and offer community health research programs to members of their community. OurGenes is a Helix Research Network study.

When you agree to take part in the study, you agree to have your genetic test results and other information in your UHN health record (today and ongoing) used in future studies. These future research studies are approved by UHN and by Helix.

Study teams outside of the Helix Research Network may also study your coded information and samples. Coded information means that study teams will not have access to information that can directly identify you, for example, your name.

Study teams outside the Helix Research Network may study coded information and samples from the databases may include:

• Health systems
• Universities
• Government agencies
• Drug companies
• Other groups interested in research

UHN and Helix will carefully review and only approve studies that:

• Abide by ethical standards for studies of human beings
• Have measures in place to ensure your data is safe and secure
• Have measures to protect your privacy

Ethical standards are a set of values that are put in place to help ensure:

• The research has scientific value
• Respect for people taking part in the study
• The possible benefit is greater than possible harm to participants (people who take part in a study)
• There is a process for informed consent
• There is justice or fairness in choosing participants

University Health Network researchers may share what they discover from this study through their website and newsletters. This information will not directly identify you or any participant.

The study team has many safeguards in place to protect your personal information. These safeguards include:

• The study team will limit who is allowed to see information that could identify you, like your name or contact information.
• The study team will limit and monitor who can access your data.
• Members of the study team who have access to your data must be trained and certified to work with this type of research data.
• Your data (your genetic information and health records) will be stored in secure databases. A team of IT and security professionals will maintain and monitor the information stored through constant checks of the computer system. The system uses safeguards that meet and, in some cases exceed, privacy and cybersecurity best practices. Cybersecurity is the use of technology, processes, and controls to protect computer systems.

These include standards set by the:

• National Institutes of Science and Technology ("NIST")
• Association of International Certified Professional Accountants ("AICPA")
• Any provincial and federal laws that apply, such as PHIPA (Personal Information Protection and Electronic Documents Act)

You can choose to withdraw and stop sharing your information at any time. Your personal information will never be shared without your consent.

Helix is committed to keeping participant information private and secure. However, some people may have concerns about U.S. laws (such as the PATRIOT Act) affecting Canadian health data. The risk of this is very low in this research. The PATRIOT Act is mainly for national security and has not been used to access health research data from international collaborations. Furthermore, the agreement between UHN and Helix mandates that Helix must notify UHN of any U.S. government requests for data access, allowing UHN to take appropriate legal measures to protect the data.