“Is Helix really sequencing for $80?” And other great questions from our ASHG workshop

At ASHG 2017, Helix held a a workshop where we spoke about our platform, our advanced approach to sequencing, and how members of the science community can work with us to bring the latest genetics research to consumers. Our panelists included:

• Shannon Kieran MS LCGC MBA, Co-Founder and Head of Operations, Exploragen
• Razib Khan, Director of Scientific Content, Insitome
• Rani Powers, Senior Manager of Innovation, HumanCode
• James Lu MD Ph.D, Co-Founder and Senior VP, Applied Genomics, Helix
• Elissa Levin MS CGC, Director, Policy And Genomic Services, Helix

The workshop attracted a crowd of ASHG attendees, many of whom had great questions for us. Here are just a few of them.

How many applications do you have in the Helix Store?

As of February 28, 2018, there are 35 products in the Helix Store covering ancestry, entertainment, family, fitness, health, nutrition, and our partnership with Genome Medical for genetic counseling. There are many additional products (from both current and new partners) launching soon.

How do you evaluate the scientific content of products?

We evaluate every product on the Helix platform for safety, accuracy and transparency. We evaluate if a product has potential risk—and if so, whether there is potential risk mitigation. We then evaluate the product to confirm that the science supports the claims. To do this, we require our partners to submit scientific evidence to support the basic interpretation of the genetic data (e.g., “you are likely to be lactose intolerant”) and the subsequent claims or recommendations from that interpretation (e.g., “you might want to avoid dairy”). When features in our partners’ products may be confusing or misleading, we first work with the partner to improve these features. If these improvements are not satisfactory, we will remove specific features or entire products. More specific details on our partner product evaluation process can be found here.

What is your relationship with the clinical community? Do doctors review any of the tests?

All health products on the Helix platform have physician approval and oversight. Additionally, all of these products currently offer access to genetic counseling. Helix does not support health insurance billing. For most other products in non-health categories, there is no physician or genetic counselor involvement.

As methods improve, can you re-sequence samples with better technology and science?

We are dedicated to continuous improvement and strive to constantly delivery higher quality and more accurate data. We typically can reanalyze users’ data as our bioinformatics processes improve.

In carrier screening, do you include SNP, indels, and CNVs?

For all Helix products, SNPs and indels ≤ 20bp are within Helix’s analytical range. Currently, CNVs are outside of our analytical range, but we are actively working on them and expect them to be available in the future. For more details, see our white papers.

Do you look at clinical yield?

Yes. We will not launch health products where we feel that the rate of false negatives is too high.

Do you have a feedback loop that will improve products and/or the research and data that supports insights?

We are excited about enabling future products. Our partners plan to improve their products over time based on internal product development. Some partners will also conduct IRB-approved research.

Regarding variant interpretation, how does it look to the user? A reclassification? Reissuing of test?

Our understanding of genetics—and even individual variants—will improve over time. Reclassification is inevitable. When this happens, we believe the appropriate response is to update results to users. Patient- and consumer-facing applications that have a longitudinal relationship are helpful in enabling this process.

Is Helix really sequencing for $80? Not genotyping?

Yes! We sequence the Exome+ using Next Generation Sequencing (NGS). The Exome+ is a custom assay that combines a medical exome with sequencing of regions outside of the coding regions of the genome. Comparable exome sequencing can cost $1,000 or more, but for just $80, Helix is able to offer Exome+ sequencing for use with partner products in the Helix Store.

What is the Helix perspective on ownership of genetic data?

Our customers own their data. They can close their Helix accounts at any time. We want to make DNA affordable and accessible to everyone, so we offer Exome+ sequencing for use exclusively with partner products in the Helix Store at a subsidized price, securely storing the Exome+ data set on behalf of the consumer and making the data available for interpretation on a product-by-product, pay-as-you-go basis. In the coming months, we will also enable customers to download their entire Exome+ raw data for a fee in order to use it wherever they like.

What have the challenges been?

Personal genomics is a rapidly growing market. Scaling to meet the needs of this growing market has come with its own challenges—but thanks to the efforts of our employees and partners, Helix is ready.

What has pleasantly surprised you?

Because the study of the human genome is often viewed as a purely clinical endeavor, we weren’t sure whether customers would immediately understand that there is much more that they can do with their genetic data. We created product categories to help customers differentiate, and we’ve been happy to see that customers aren’t confused by these product categories; they genuinely think about them as different types of products. A carrier screen is very different from a product like Wine Explorer, and our customers have quickly come to recognize that.
We’ve also been delighted by the range of novel products from extremely creative developers that have launched (and will continue to launch in the coming months). Our users have shown a real hunger to understand themselves better, which has really energized us and our partners.