Sequence Bio

Your Results

Sequence Bio is committed to Newfoundlanders and Labradorians like you - our friends, family, and communities. That’s why we’ll share NL Genome Project findings with participants to potentially provide insight into their genetic makeup and inform better healthcare choices.

Your Genetic Findings

Participants of the NL Genome Project can choose whether or not to receive findings about their genetic makeup. Sequence Bio has its own genetic counselling team to help you and your doctor best understand these findings.

There are three different categories of findings that Sequence Bio plans to develop and return. Some will be returned to your doctor to discuss with you, while others will be returned directly to you.

Genetic Counselling Support
Genetic Counselling Support

Sequence Bio has its own genetic counselling team that will develop and validate the content for several types of findings reports and support the return of the results to your doctor. Sequence Bio’s lead genetic counsellor will be responsible for coordinating a team that will provide genetic counselling services at no cost to participants and their doctors.

Findings To Your Doctor

Your doctor will discuss these findings with you and decide on next steps. These findings are research-grade. They will not be placed in your medical record.

  • Medically Actionable Variants

    Medically Actionable Variants

    Research-grade findings will be shared with your doctor if we detect a rare variant in one of the 59 medically actionable genes. These genes are directly linked to life-threatening diseases with possible treatment or screening options (such as increased risk for cancer or heart failure).

  • Carrier Status

    Carrier Status

    Information about some types of genetic changes for which you may be a carrier. This means you will not personally be affected, but there is a chance your child or future children could be affected by the condition or also be a carrier.

Findings To Participants

  • Personal Traits

    Personal Traits

    Information that is not medically relevant but might be of interest, like how you process caffeine, sensitivity to bitterness, and your eye or hair colour.

More Information About These Findings

These findings are known as research-grade findings because we will be studying the DNA from your saliva sample in a research laboratory, not a clinical laboratory. Research-grade findings can not be used to make a diagnosis or to determine a treatment. That means your doctor may need to order further tests from a clinical laboratory to confirm your findings.

While Sequence Bio aims to eventually return all of the above-noted results to participants, the list of specific diseases, carrier findings, risks, or traits may change as our capabilities grow and scientific knowledge of the human genome improves. Actionable findings may not be found in all participants, and some findings could be deemed actionable several years after participation. Initial findings will take up to 18 months to return. These findings may not reveal anything of importance, or may reveal something potentially distressing.

Our findings are only based on what we discover in your genes. Our analysis methods do not look at all possible changes in every single gene. Our findings do not represent a complete survey of your genes. If we do not find anything, it does not mean that there are not any changes. It could mean we did not detect any changes. You may still be at risk because you may have genetic changes that were not picked up using our analysis method. If we do not detect changes, we will not send a report to your doctor.


St. John’s based biotechnology company Sequence Bio is leading the NL Genome Project.

Sequence Bio’s Senior Director of Data Science and Analytics, Bari Ballew, PhD, is the Principal Investigator of the study. Sequence Bio’s Director of Research, Gerald Mugford, PhD, and Dr. Dennis O’Keefe are the Co-Principal Investigators.

Questions about your rights as a participant in a research study?

Contact the HREA Ethics Office. They are not involved with running the study.

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