Genomenon’s resident Genomics visionary and Chief Scientific Officer Mark Kiel, shares his thoughts on how advances in AI, newborn screening, and collaborative research will ignite change in the coming year.

As I prepare for our first round of scientific conferences in January, I want to stop and thank you, our clients, partners, and collaborators, for another amazing year. In 2023, we showed that a solid foundation of genomic intelligence is critical for both genetic testing labs working at the front lines of clinical diagnostics and pharmaceutical companies engaged in preparing to take new therapies to market. Your successes are our proof points! A couple of highlights for me personally:

• The latest release of our genomic evidence platform Mastermind^® introduced new gene pages, new curated gene-disease relationship data, and access to genomic intelligence at the gene level for the entire clinical exome. This massive update is already receiving rave reviews from our user base.
• The expansion of our genomic intelligence curation services for both pharmaceutical genetic disease drug development and genetic testing labs. We are excited to share the knowledge and expertise of our amazing curation team as well as our well-honed processes with the greater community.

On the Cusp of a New Era

Looking forward, I am convinced that we are entering a new era of genomics that will lead to faster approvals for new gene therapies and treatments for genetic diseases with increasing speed and efficiency. Case in point: the recent FDA approval of New Sickle Cell Disease Gene Therapies from Bluebird Bio and Vertex Pharma.

What can we expect in 2024? Here are my predictions and a few thoughts from my good friends and colleagues.

Personalized Medicine will Get Real

We’ve witnessed tremendous advances in high-throughput genetic sequencing and genetic editing with CRISPR-based tools. The translation of accumulated knowledge from these technologies to safe and efficacious therapies, however, has lagged behind. I predict that will change in the coming year as research tools that harness AI for scientific literature mining continue to evolve and accelerate our understanding of human genomics and rare genetic diseases. An important part of that evolution will be recognizing the limits of AI and devising solutions that surmount them!

“We need to take risk off the table as quickly as possible to be sure we are doing the right thing for the right set of patients. The more we know about patients and the more models there are for testing drugs, the better we can predict what will happen in the clinic.”
⎯ Alastair Garfield, Head of Translational Science and Strategy, Rectify Pharma

Data Management and AI will transform Clinical Research

Biology became a data science in the early 2000s, with the advent of genomic sequencing. In the coming years, we will witness another transformative shift as pharmaceutical companies target more rare diseases, stratify clinical trial subpopulations using biomarker and genetic data, and rely on more structured and unstructured patient data from myriad sources. Tools that help clinical study teams organize and interpret this deluge of data will be critical, as will a source of truth to use as a benchmark.

“We need to work pre-competitively to ensure we get better care, better diagnosis, and better treatments to patients faster.”
⎯ Samantha Parker, Chief Patient Officer, InnoSkel; Vice Chair, IRDiRC 

Newborn Screening will take Center Stage

Now that we can reliably diagnose extant disease through genome sequencing and variant interpretation, our next challenge will be to accurately predict disease before it is apparent or confirmable. I foresee newborn screening (NBS) will be a game changer in 2024. Expanded NBS systems will usher in a new era of large-scale correlations between screened healthy and unhealthy individuals. It will produce even more genome sequencing data from which we can draw meaningful and potentially surprising correlations to diagnose patients earlier and match them to the most appropriate treatments. Large-scale screening data for infants and adults will provide key insights into the meaningfulness of thousands of genetic variants.

In 2024 and Beyond, Collaboration will be Key

To realize these predictions and further fuel major breakthroughs in genomic science, particularly for rare genetic diseases, will require new processes, better collaboration across pharma and patients through advocacy groups, and partnerships that enable us to build on our collective knowledge.

If you haven’t already done so, I highly recommend you watch Rare Perspectives: Developing Treatments for Rare Disease. In this fireside chat, Dr. Alastair Garfield from Rectify Pharma and Samantha Parker, the Chief Patient Access Officer at InnoSkel and Vice Chair of the International Rare Disease Research Consortium (IRDiRC). They discuss the challenges rare disease drug developers and advocacy groups face today, and their vision for the future. Together, we can make it happen.

Have a great start to 2024!