Hacker News new | past | comments | ask | show | jobs | submit login
Launch HN: Sequence Bio (YC S19) – Newfoundland's Genetics for Drug Discovery
52 points by sbmcdonald 9 months ago | hide | past | web | favorite | 10 comments
Hi HN -

Chris Gardner here, founder of Sequence Bio (https://sequencebio.com). We’re researching Newfoundland’s enriched genetics and medical records to find and develop better, safer medicines.

First things first, let me tell you a bit about Newfoundland. Not only is it my home, but it’s also a pretty unique place. Perched on Canada’s most easterly coast, Newfoundland has its own 30 minute time zone, a Broadway musical about how nice we are (Come from Away), and a front row seat to humpback whales and 10,000 year old icebergs. Newfoundland’s settlement pattern is also unique because it was settled in the 1700s by about 25,000 Irish and English people and there’s been little inmigration ever since. In fact, it’s estimated that about 90% of our 500,000 residents descend from those original settlers. This high degree of relatedness among residents, coupled with large families, makes Newfoundland a ‘genetically isolated’ population.

Because of this unique history and high degree of relatedness, genetically isolated populations like Newfoundland also have high frequencies of genetic variants that help explain the link between genetics, health and disease. Newfoundland itself has some of the highest rates of type 1 diabetes and colorectal cancer in the world. These links are important to pharma because they can help double the success rate of their drug programs, and over $4 Billion was spent last year to access genetic and medical data to find these links. But, not all data is created equal. The most valuable data come from populations with two characteristics: isolated genetics and uniform medical records in a centralized healthcare system. There’s only a few places on earth with these characteristics (including Iceland, Finland, Japan and Qatar). One of them is Newfoundland.

Despite the opportunity for important discoveries in Newfoundland, genetic research here has a troubled past. In the 90s, researchers from Baylor University were dubbed the ‘Texas Vampires’ for flying into small Newfoundland towns and telling people they were at risk of dying suddenly due to a rare heart condition. These researchers coerced patients into providing blood samples and never returned to Newfoundland with the findings they promised, including insights that could inform treatment options for those with the rare heart condition. This was highly unethical, left Newfoundlanders skeptical of genetic research, and led the local Government to enact strict regulatory barriers.

My family has lived in Newfoundland for over 200 years and I wanted to see commercial genetic research done in a way that puts Newfoundlanders first. Genetic research has the opportunity to help us understand the diseases that impact Newfoundlanders the most while also having a positive global impact. People from outside Newfoundland have tried, and failed. And that’s why I started Sequence Bio.

Sequence Bio is a local company that spent 5 years building the right ethical and legislative framework to access and study this data in a way that ensures Newfoundlanders are protected and benefit from our research.

Two key parts of this framework include:

1) Helping amend the Canadian Human Rights Act to outlaw genetic discrimination and protect the rights of those who donate their DNA for research; and

2) Fighting for (and winning) the right to return medically actionable findings. These findings include information on 59 medically actionable genes that have known treatment options (including the BRCA1 and BRCA2 genes associated with elevated risk for breast cancer), and a person’s carrier status for certain diseases, including cystic fibrosis. We hope these findings will help Newfoundlanders make informed decisions about their health and care.

It wasn’t easy getting these measures passed, but we built our business with a participant-centric approach that puts trust and privacy at the core of everything we do. We want to be a company that makes all of Newfoundland proud. Because when it comes down to it, the people who are taking part in this research are (literally) our family, neighbours and friends. Our success depends on their support.

This June, we started recruiting Newfoundlanders for our research project, called the NL Genome Project (NLGenomeProject.ca), and over 1,200 people have already donated their genetic and personal health information. It was a long road to get here, but it was worth it to do it right. All participants of our research are fully informed of how their data is used and shared, and there is no obligation to take part.

Now the real work begins. With this information, we’ll combine it and study it at scale to find different mutations or variations - almost like finding typos in our genetic code - that better explain the link between genetics, health and disease. This information is highly valuable because it can be used to discover new medicines that are more likely to succeed in phase two clinical trials. By leading the early stages of this research and forward-integrating into drug development, Sequence Bio can capture long-term value of new medicines through licensing and other transactions which could generate anywhere from hundreds of thousands to hundreds of millions of dollars in revenue per transaction.




The name seems very ungoogleable (like "telescope astronomy") but there you are at the top of the results.

This seems exactly the kind of work that's traditionally been done via public research. What's your advantage here? Easier ethics?

I don't see an insider bonus vs a local university, and 23 and me can beat you with scale.

Rare diseases are notoriously difficult to commercialize (if they were common they'd be found already, if they're rare the target market is small)

Did any drugs come out of similarly low diversity regions in the West like the Orkney islands or Tasmania?

How long did that take?


Newfoundland isn’t just low diversity, it's actually a collection of hundreds of isolates. And, because of our ability to combine genetic data with uniform medical records, we will be able to derive insights from small cohorts (hundreds or thousands) that would take millions to find in admixed populations, if at all.

The rare variants found in isolated populations are not necessarily rare disease targets. For example, the very rare mutations in SCN9A led to a novel class of analgesic (one of the broadest medical indications). However, the combination of new therapeutic modalities like cell and gene therapy, together with a more flexible regulatory and payor environment for rare disease does allow companies to economically pursue treatments and cures for rare conditions.

We believe a private entity is the best way to create value for both participants and industry for two reasons: (1) public projects haven’t succeeded in delivering value to participants themselves - the benefits accrue mainly to researchers and secondarily to public health; (2) to really create value from a population cohort you need more than just data - you need to produce valuable insights like drug targets and real world evidence. As a private entity, we can invest to create that value. The ethical requirements are the same for public and private entities, and as mentioned, we spent 5 years helping build the right ethical framework to ensure Newfoundlanders, and the province as a whole, benefit from our research.


Awesome! It seems like you are focused on handling this data responsibly, which is really nice to see. How much drug discovery and development will you undertake yourself vs license to others?

I think there are clear business benefits to developing your own drugs in addition to the benefits of having this sensitive data be shared responsibly.


Our goal is to forward integrate into proprietary product development. Along the way, we’re working with partners in a shared risk, shared benefit model to help finance and build internal capacity to develop our own clinical pipeline. Our focus on benefiting research participants is something that will always be at the core of everything we do, and even extends to how we evaluate and select partners - sharing that vision is very important to us.


Wow. Congrats on your work so far and I hope it all pans out as you hope!

I would be tickled silly if the place that really makes a name for privacy and genetics research in Canada ends up being NFLD.

All the best!


Thank you - the response from participants has been amazing.


Congrats from PEI! Great to see a company from the east coast at YC.


Thanks, neighbour!


Newfoundland: North America’s own Iceland!


But, with a bigger and more recent population bottleneck




Guidelines | FAQ | Support | API | Security | Lists | Bookmarklet | Legal | Apply to YC | Contact

Search: