Interview with Keith Booher

Showcase Track S1, Day 2 / February 6th: AI and Data Sciences Showcase

1. Your talk emphasizes AI-driven workflows for identifying repurposed drugs. Can you share a specific case where your platform identified a treatment for a rare disease, and how it impacted patient outcomes?”

Yes, absolutely… But first of all, I need to emphasize the highly productive partnership we’ve developed with Unravel Biosciences, our industry partner based in Boston. By coupling Zymo Research’s sample preparation and next-generation sequencing (NGS) workflows with their data analysis platform, we’ve seen huge potential for AI to positively impact patients who may have nowhere else to turn.

As one illustrative example, a pediatric neurologist connected Unravel Biosciences to a patient with a severe and progressive form of KMT2B dystonia living in remote Arizona. Using Unravel’s rareSHIFT https://www.rareshift.org/ program, which provides access to their AI discovery platform, RNA samples from the patient and a healthy control relative were collected using Zymo’s nasal swabs with DNA/RNA Shield https://www.zymoresearch.com/pages/sample-storage-ambient-temperature preservation solution, returned by mail, and sequenced by Zymo. The transcriptome data was analyzed using Unravel’s BioNAV AI software, which identified a new therapeutic mechanism that could be targeted with an existing drug. The patient’s clinician prescribed the drug, and within days the boy showed remarkable improvements: his dystonia symptoms ceased, his sleep normalized (from 30–60 minutes per night to full, restful sleep), his ADHD symptoms dramatically decreased (allowing him to focus on tasks for 5–9 minutes instead of 20–30 seconds), and probably most importantly of all, he recovered significant ability to communicate with his family. He quickly began to understand instructions, which enabled his family to take him to the store and other public places, and after a few months he even started to use sign language as a form of self-expression, all despite having lost the ability to speak 4 years before. Unravel published a video sharing this patient’s story: https://www.youtube.com/watch?v=LmcvbzHQzvM

The company now works on over 40 rare disease programs and has collected more than 1,300 samples, which correspond to hundreds of patients, all using Zymo’s DNA/RNA Shield home collection kits and the jointly developed RNA extraction and NGS workflow. All of the programs where patients have worked with their clinical team to test a drug have led to similar clinical successes. Looking ahead, the company is initiating several clinical trials that will rely on frequent sample collection using Zymo kits as a way to boost their AI dataset and accelerate the discovery of novel disease biology.

2. AI solutions often face challenges in accessibility for smaller labs or institutions. How does Zymo’s workflow democratize access to AI-driven drug discovery, and what steps do you see as critical for broader adoption?

Zymo has developed a robust nucleic acid stabilization solution called DNA/RNA Shield that preserves the genetic integrity and expression profiles of samples at room temperature, which is critical in generating high-quality -omics datasets needed to utilize AI’s full potential. This, together with self-collection methods like nasal/oral swabs or finger prick devices, has enabled companies like Unravel and many other researchers to decentralize sample collection. The ease of self-collection together with being able to ship DNA and RNA around the world at ambient temperature (no cold chain) has unlocked connections between patients, researchers, and clinicians. Patients are no longer required to travel to a center of excellence or even leave their home. This has accelerated drug discovery by companies like Unravel, enabling them to build new databases of primary patient data from highly diverse ethnicities and geographies to fuel their AI pipeline within just a few months. Furthermore, Unravel started the rareSHIFT program precisely to offer other groups and even individuals access to their powerful platform. We see this as a great example of how key innovative technologies—such as Zymo’s self-collection kits and NGS workflows, combined with Unravel’s AI-driven drug discovery platform—can dramatically accelerate drug development and ensure that effective treatment options are available for all patients, no matter how rare their condition or how remote their location.

3. Looking ahead 5-10 years, how do you see AI and multi-omics shaping the future of personalized medicine, particularly in addressing unmet medical needs?

As an example of future possibilities, Unravel has closed the loop between patients and effective treatments using AI and Zymo’s sample collection kits. This process takes only a month or two, enabling patients to work with their clinicians to identify repurposed drug candidates they can test today, while also validating drug targets to build even more effective treatments for tomorrow. We collaborate with Unravel to tackle rare, ultra-rare, and even completely unique N-of-1 disorders across six continents. This represents a paradigm shift in both clinical care and novel drug development for even the rarest and complex of disorders. We envision a future where AI, combined with global sample collection, accelerates the pace of drug discovery by enabling large-scale personalized omics data collection, decentralized clinical trials, and a personalized N-of-1 approach to all disorders, even relatively common disorders like Alzheimer’s, neuropsychiatric disorders, autoimmune diseases, and infectious diseases.

Interview Questions for Mike Snyder

1. Can you describe a project or experience where you integrated data from wearables with multi-omics data? What were the main challenges you faced, and how did you address them?

We have several projects running right now where we are integrating smartwatch data, omics data and continuous glucose monitoring (CGM) data to better manage glucose levels. The study predicts which features, omics (including microbiome), and physical activity to better manage people’s glucose levels. It not only helps tell people what to do, but when to do them. For example, people who are insulin resistance get better benefit (in terms of glucose levels) from exercise in the morning whereas those that are insulin sensitive get more benefit from exercise in the afternoon.

2. How do you foresee the integration of wearable data and genomic information shaping the future of treatment plans in clinical settings? What are the potential challenges and benefits of implementing such personalized treatment strategies?

It will not just be the integration of wearable data will genomics data—it will be wearable data with all kinds of other data including omics, clinical and lifestyle data. The wearable data is ideal for tracking physiology in real time and combining this with genomics and biochemical data gives a much more complete picture of what is occurring. In our initial deep profiling study of 109 volunteers we found 49 major health discoveries (and minor ones as well) from the combination of all of these data types (Rose et al, 2019).

3. What are the key ethical considerations that must be addressed when designing and implementing studies or interventions that utilize wearable technologies and multi-omics data?

We certainly want to be as inclusive as possible and make sure all individuals can benefit from these technologies. Indeed, one nice thing about wearables is they can be used in remote settings and they are relatively inexpensive. Moreover, algorithms can be trained on extensive data from the individual so, in principle, everyone can benefit from personalized health monitoring.

As predictive capabilities of wearable and multi-omics data evolve, how should healthcare providers manage the ethical dilemma of predicting and disclosing potential future health conditions to individuals and their families?

I think the individual should be in control of what information is relayed back to them. That is to say they work with their physician to determine if they want to know both actionable information (e.g. BRCA status) as well as nonactionable information (e.g. Huntington’s status). I think most wearable data is actionable. The individual works with their family to decide what other members might want to know. In general, the omics and wearable information can be used for improving the health of individuals and early detection of disease.

Sources:

1. Verily: Project baseline
2. NIH: https://allofus.nih.gov/
3. NIH: https://hmpdacc.org/ihmp/
4. Genomics and Personalized Medicine: What everyone needs to know (by Michael Snyder)

Can Proteomics Transform Cancer Prevention? Learn from Dr. Stefánsson at PMWC Feb 5-7 – Healthcare Professional

Can we predict and prevent cancer before it strikes? Dr. Kári Stefánsson, founder of deCODE Genetics, is leading the way.

Join me at the Precision Medicine World Conference (PMWC) 2025 – Feb 5-7 Silicon Valley for an exclusive session where Dr. Stefánsson reveals groundbreaking research on genetic variants shaping cancer risk and prevention.

On Feb. 7th, in Track 4 of PMWC 2025, Dr. Stefánsson will present his latest findings in proteomics, examining how protein levels in blood correlate with disease progression and regression. This innovative approach goes beyond treating symptoms to address the molecular roots of diseases, paving the way for tailored therapies.

Key Highlights of Dr. Stefánsson’s Research:
      • Critical insights into cancer risk: Genetic variants in genes like BIK and ATG12 increase cancer risk by 90-295%.
      • Protective genetic variants: Loss of PPP1R15A reduces breast cancer risk by 53%, while AURKB loss offers protection against multiple cancer types.
      • Clinical integration of genetic data: Learn how cutting-edge discoveries can transform cancer treatment and prevention strategies.

Dr. Stefánsson’s work not only identifies genetic factors increasing cancer risk but also uncovers variants that reduce it, offering exciting new avenues for therapy and prevention. This session will illuminate how these findings can reshape clinical practices and patient outcomes.

Join the discussion at the Santa Clara Convention Center, Feb. 5-7 and save by end of year!
Shaping the future of precision medicine!

Happy Holidays,
Tal Behar

President & Co-founder, PMWC
PMWC 2025 Silicon Valley – February 5-7, 2025
The Precision Medicine World Conference