A: We are proud to work with health systems across the US to support population-scale genomics. In general, these initiatives aim to expand access to clinically actionable genetic screening, deeply integrate genomics into clinical care, and drive research to ultimately improve the prevention, diagnosis, and treatment of disease. While we’ve learned a lot about the genome over the past decade, we haven’t made as much progress translating it into the clinic – and these projects are poised to dramatically change that.

Helix’s role is to support health systems every step of the way. We provide an end-to-end solution that takes our partners all the way from recruitment of participants, to sequencing, bioinformatics, and data storage, to scalable return of results, to ongoing engagement and a cutting-edge research platform. Most health systems aren’t looking for a diagnostic report or a lab solution – they need a full solution that can scale up to support millions of people. We also bring together EHR and genomic data to drive improved outcomes, better manage populations, and enable genomics to be used over and over again as a data layer throughout healthcare. The Helix model – sequence once, query often – is still fairly unique and important to our health system partners.

A: By combining longitudinal EHRs with Helix’s Exome+, these initiatives are generating the real-world evidence to support running a genome on every patient in the door. Because each person is consented to research as they enroll, we’re able to answer a lot of questions and quickly test hypotheses. We’re already learning a tremendous amount. One of the first questions we had with Renown was “How many people who have pathogenic variants aren’t being caught in the normal course of medical care?” The answer is a lot – over 90%. So now we are taking a deeper look to figure out what it will take to fix that. Another finding related to this is that people on guidelines and off guidelines for common conditions like FH and Lynch Syndrome have no difference in genetic disease burden, suggesting that guidelines are far too narrow.

In 2020, we’ll also be proving that “on demand” genomics, where the genome is used as a data layer instead of a lab test dramatically changes the paradigm of care. We’re also excited to be working with health systems across the country and are starting to normalize the data sets to enable our partners to ask questions across the entire Helix network to rapidly drive translational research into clinical care. More to come on this front!

A: Our mission has always been to empower every person to improve their life through DNA. Working closely with health systems dramatically accelerates this mission. One of the big problems in traditional consumer genomics is how to close the loop when something serious and pathogenic is found. Providing a report, no matter how well designed, just isn’t good enough when you’re doing clinical work. Because we work directly with health systems, we can close that loop – a local provider reaches out directly to patients who screen positive to bring them into the clinic and ensure they receive the care they need. Another big problem is access – after all, our mission is to empower every person, not just people who have the money or insurance coverage to access their genome. We’re proud that through our work, hundreds of thousands of people can now get access to potentially life-saving genetic information at no cost to them – information that could lead to diagnoses and enable lifesaving treatment for these individuals and their families.

We also continue to believe that each individual should own and control their data. Every person in a Helix program still has control over their data and can explore recreational insights as well as clinical insights if they so choose. Importantly, having the data owned by the individual means that the genome is portable to that person – if they change providers, their genome follows them and can be used throughout their lifetime. The focus on individual empowerment and genomic data portability is something where Helix has always been forward-thinking.

Finally, we’re also seeing that the people joining these projects are much more diverse than what you might see from people who simply went out and bought their own DNA test or from existing genomic research, which tends to be heavily weighted towards people of European ancestry. We’re really excited about being able to expand access and improve the diversity of genomic research.

A: There are a number of reasons:
• They expand access to genetic testing to underserved communities
• They enable more personalized and, ultimately, more effective clinical care
• They help to establish the necessary evidence base to make genetic testing more broadly accessible
• By sequencing entire populations, rather than very sick patients far down the progression of disease, these initiatives can find disease risk early in life when there are still actions that can be taken. We are seeing that the disease burden is very high in populations who today never get screened.

To make it real – right now close to eight million people in the US are living at an increased risk for highly actionable hereditary conditions and don’t know it – and these are conditions that could be treated to dramatically lower their risk.

Lastly, doing anything at a massive scale is always challenging. The only way to solve implementation problems is to start. We’re learning with our partners what works and what doesn’t work and solving the friction points one by one. For instance, recreational results such as ancestry and traits significantly increase patient engagement, which is great for healthcare more generally and something we are leaning into. As we scale to millions, all health systems worry about being overwhelmed by new patients. To solve this, Helix developed a patient portal to digitally return clinical results while also triaging positive patients to the right providers. This approach ensures that health systems see the right patients but that all people are still educated about concepts such as residual risk.

A: Right now the medical guidelines for who qualifies for genetic testing are narrow and reimbursement is very limited. The groundswell of health systems launching population genomics initiatives is a reaction to those constraints. They see the value in this type of information, but many payers haven’t yet come around to it. So they’re taking matters into their own hands and developing the evidence themselves – and we’re excited to help support and accelerate this.

What this also means though is that we have a lot of work to do on improving and expanding the infrastructure and services to support this trend – including physician education, how we return results to individuals and their healthcare providers, and how we support individuals with genetic counseling.

Lastly, the heterogeneity of EHRs is a challenge for all of healthcare. For genomics to work seamlessly, the deliverable can’t be a PDF report that most physicians (and patients) have no idea what to do with. We are working closely with our health system partners to integrate genomics into their clinical workflows, and also normalizing their EHR data so that we can provide better insights to providers to take care of people. We certainly wish that there was one data standard that every system used across the US!

A: As we see more and more large-scale genetic screening initiatives launched across the country, the number of people getting screened is poised to increase dramatically. A really critical part of enabling this is ensuring that we are returning results in a responsible and effective manner – both to physicians, who are busy and often not trained medical geneticists, but also to the patients themselves so they are empowered with their results. We’re excited to bring together diverse perspectives from a variety of stakeholders and institutions to understand how they’re approaching this and what they’ve learned.

A: I hope that they see that genomics is truly at an inflection point – the cost of sequencing has dropped dramatically and our understanding of the genome is growing exponentially. But there’s still a lot of progress to be made in how stakeholders across the value chain access and benefit from genomic information. To make genomics part of the standard of care, we need to break down the barriers that are preventing it and figure out how to scale the infrastructure and services to support it.

Ultimately with genomics this means flipping the traditional model of lab testing on its head. Your genome is the one biological dataset that doesn’t change over time. If we can store it, make it portable, and give individuals access and control, it can be used many times over the course of a person’s life – for research, clinical care, or personal use. This is the world we’re building towards.