Sequence Bio

How It works

The NL Genome Project is a local research study led by Sequence Bio that aims to learn more about Newfoundland and Labrador’s unique genetic makeup. In this pilot phase, the NL Genome Project will study the DNA, medical records and health information of 10,000 volunteering, consenting participants.

We hope this research will help:

  • -Understand the genetic makeup of Newfoundland and Labrador
  • -Develop better, safer and more targeted medicines
  • -Improve how we treat and prevent diseases
  • -Inform better healthcare choices by returning findings to participants
  • -Integrate precision medicine into our local healthcare system
  • -Design a larger research project in Newfoundland and Labrador

Like other health research, there is no guarantee that this study will result in any significant breakthroughs.

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.

How our research works


With less than half a teaspoon of your saliva (spit), we can extract your DNA and begin to learn about your genetic makeup with a process called genotyping.
Genotyping reads specific parts in your DNA where genetic changes are known to occur. We can also sequence your DNA, which reads your entire genetic code and all the changes that may exist.

Our DNA analysis will be performed in an approved Canadian genomics laboratory. Genotyping will be performed using Applied Biosystem’s Axiom Precision Medicine Research Array (PMRA) on the GeneTitan and Whole Genome Sequencing will occur on Illumina’s NovaSeq 6000 Sequencing System.


Medical records

To get a more complete picture of Newfoundland and Labrador, we are asking for permission to access all your medical records.

Learn more about how we will protect this information.

Medical records

Our research

Your saliva contains DNA, and thanks to advances in science and technology, researching human DNA is becoming a more affordable and accurate method for developing new medicines.

By using advanced statistical and computational analysis on our custom research platform, we hope to learn more about what makes this province unique by looking for common patterns in lots of people’s DNA. We hope to identify genetic changes that can alter the function of genes (almost like a typo in our genetic code), and look for how those patterns relate to our health. We hope this helps explain why some people are more likely to get sick, or why some medicines work better on some people, but not others. This could help us achieve our goal of discovering better, safer medicines and improving how we treat and prevent diseases.

Because the NL Genome Project is a pilot, there is no guarantee it will lead to any new discoveries. There are limits to what we can learn.

Our research

Protecting you

The NL Genome Project is committed to the highest levels of security and protects data with the same best-practice measures used by leading banks, hospitals, and governments around the world.

Information that identifies you, like your name or birthday, is not used for research and is locked away in a separate encrypted database. Instead, you will only be identified by a unique Study Code when research is performed.

When we collaborate with other researchers, they will not download or transfer data. We bring them to the data by providing controlled and secure access to our research platform.

Protecting you

Only time will tell!

With genetic research, we don’t know what we’ll find or discover until we have completed our analysis. That’s why the NL Genome Project will run for a long time and has no set end date. By taking part in this study, you allow us to access your medical records and research your information for your lifetime or for as long as you stay in this study. We will protect your information every step of the way and only use it in ways that you’ve agreed to.

If you change your mind about participating in the NL Genome Project, you can withdraw at any time.


We’ll be in touch to share updates on the study, and at times we may invite you to provide additional or replacement samples, participate in follow-up interviews, provide additional information through questionnaires, or to take part in new research projects - but don’t worry, it’s always up to you whether to take part!

We will also remind you by email or other correspondence at least once every 12 months about your participation in this project, your right to withdraw, and provide you with an opportunity to update your information.

Our Business Model

The value of Sequence Bio’s research is in the findings and insights we hope to generate - not the data itself. Our business model is based on researching the information donated by participants to find potentially important patterns and insights. If our researchers develop these findings and insights, we will then work with approved, experienced partners to invest in these findings and bring new treatments and medicines to market. By leading the early stages of this research and development process, Sequence Bio can, like other biotechnology companies, capture a share of the long-term value of the medicines through licensing or other transactions.

Individual data or data that identifies you will not be sold, and we will never sell your saliva sample. We will only use your data in ways which you expressly agree to.


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.

(709) 864-8871|

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