Population Studies: Enabling Individualized Disease Treatment, Care, and Prevention

With the dawn of DNA sequencing, wearable technologies, and big data applications such as artificial intelligence and machine learning, detailed characterization of human biology and behaviors is now possible at an unprecedented scale. This is reflected in the rise of global population studies, creating opportunities to better understand complex traits, diseases, and the healthy individual.

Furthermore, increasingly accessible electronic medical records, health insurance data, and data from other platforms (e.g. genotyping, imaging, or sequencing platforms) combined with rapidly evolving computational power and bioinformatics methods help identify hidden structures within these complex data sets, and aid in linking these structures to outcomes data which may yield unique insights into the risk factors and natural history of diseases. This in turn may help optimize the prevention and management of disease. The combined aspects of these capabilities make up the foundation of “Precision Medicine”.

Population studies, a driver to understand complexity, volume and responsibility associated with genomic medicine
To understand and test whether our health systems are ready for the complexity, data volume, and responsibility associated with genomic medicine and the imperative to share clinical, epidemiological, and genomic data on a global scale to optimize the benefits for the individual, population studies are sprouting up left and right. The real barriers to widespread clinical implementation of genomic applications span diverse domains, including data integration and interpretation, workforce capacity and capability, public acceptability and government engagement, paucity of evidence for clinical utility as well as questions regarding cost-effectiveness, not to mention ethical and legislative issues.

Several large-scale sequencing projects have been initiated in the last few years
Countries such as the US, UK, France, and China have invested in population-based sequencing projects with return of results to participants. Some of the most well-known and largest undertakings include:
All of Us Research Program
o 1,000,000 genomes of all life stages, health statuses, races and ethnicities, and geographic regions, reflecting the human diversity of the US
Chinese Precision Medicine Initiative
o Aims to sequence 100,000,000 genomes by 2030
France Genome Medicine Plan
o Sequencing 235,000 genomes per year by 2020
o Corresponds to 20,000 patients with rare disease and 50,000 patients with metastatic or refractory cancer
UK-based 100,000 Genomics England Project
o 100,000 genomes – sequencing completed in 2018
o 100 rare disease and seven common cancers
o Sequencing 5,000,000 genomes in the next 5 years in both clinical and research environments

Let’s not forget efforts in the Private/Medical Organization sector
The increased integration of genomics into public healthcare systems is mirrored by an explosion in the use of genomics in the private/medical sector, with examples that include:
Geisinger Health System
o MyCode project in partnership with Regeneron Pharmaceuticals
o >190,00 patient-participants – expanded to include all consenting Geisinger patients
Intermountain Healthcare
o HerediGene in partnership with deCODE genetics
o >500,000 patient-participants
Renown Institute for Health Innovation
o Healthy Nevada Project in partnership with Helix
o 50,000 participants
o WholeMe Study in partnership with Helix
o 10,000 participants

These various large-scale initiatives have the opportunity to transform healthcare systems by integrating genomic technologies into clinical care. The scale of the implementation challenge is formidable, and sharing data, tools, experiences, and knowledge to create a global “learning health system” is essential if we are to effectively accelerate and sustain the integration of genomics into healthcare. Therefore, we need to focus on aspects such as sharing data, aligning research protocols that enable discovery across larger datasets, efficiently evaluating new sequencing and computational methods for clinical use, harmonizing the collection of clinical and phenotypic data, improving the understanding of variant- and gene-disease associations, developing common data models that capture evidence, contributing to public knowledge repositories, and addressing consent procedures with the patient at the center.

Justin Kao, Co-Founder & SVP at Helix: “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.”

PMWC Silicon Valley, January 21-24 is poised to address these formidable challenges: our forum has a representation of stakeholders across the spectrum, from government, private, and commercial organizations joining this conference to share their study focus, their implementation procedures, the questions they need answered with their respective studies, and the challenges that they need to overcome.

The scheduled program provides a great traverse across various programs and population studies that are currently being conducted:
Successful Genomics Programs – Research and Clinical: In this session, we will hear updates from several population sequencing studies and learn about their objectives, protocols, and challenges – chaired by Clara Lajonchere (UCLA Institute for Precision Health)
o Includes an overview of:
– AdventHealth ‘WholeMe study’ by Steven Smith,
– Renown Health ‘Healthy Nevada Project’ by Anthony D. Slonim,
– University of Vermont Health Network ‘1K patient genome sequencing study’ by Debra G.B. Leonard,
– Stanford University ‘Clinical Genomics Services’ by Euan Ashley, and
– All of Us Research Program by Chris Lunt
Unique Population Study Collaborations: This panel will dive into unique partnerships for population studies that have recently been launched. The line-up includes partnerships among various medical organizations and pharmaceutical and direct-to-consumer testing companies – chaired by Aleks Rajkovic (UCSF)
o The panelists include Jennifer Low (23andMe), Anthony D. Slonim (Renown Health), Lincoln Nadauld (Intermountain Healthcare), and Olena Morozova Vaske (UCSC)
• A talk by Shannon Muir will focus on the California State Government Efforts in Precision Medicine where she will discuss ongoing and future initiatives, programs, and partnerships funded by the State of California to advance precision health and medicine

The program also touches on very specific, practical, and relevant aspects that need to be considered when planning and executing a population study: (FULL 400-Speaker Program including below talks/sessions)
Making Precision Medicine Mainstream With Health Data: Challenges to Acceleration which covers issues such as making health and genome sequence data part of routine health care including reimbursement aspects, infrastructure requirements, and the challenges of ordering the tests and making the results available to the physician – chaired by Marylyn D. Ritchie (UPenn)
o The panel consists of Dana Crawford (Case Western Reserve University) and Jennifer K. Wagner (Geisinger)
Moving Genomics to Standard of Care: Scalable Return of Results In this session, healthcare leaders will discuss how they scale return of results and improve outcomes for their communities – chaired by Justin Kao (Helix)
o The panelists include Huntington F. Willard (Geisinger) and Teresa Kruisselbrink (Mayo Clinic)
Health Data At Scale: This session will focus on making precision medicine mainstream via managing and utilizing big data and genome sequence information – a session chaired by Jessica Mega (Verily Life Sciences)
Workplace Genomics: How Employers Are Adopting Genetics and Genomics for their Members: A discussion that will focus on how leading employers are implementing these programs and the results they are seeing – chaired by Lisa Alderson (Genome Medical)
o With Pat Leckman (llumina), Annette Falkowski (Exact Sciences), and Robert Goldsmith (Novartis)
• A talk by John Mattison (Kaiser Permanente) on Data Science in Hospitals and Health Systems

Don’t miss out on being part of this unique gathering of stakeholders, subject matter experts, and leaders in the field of Precision Medicine – sign up for PMWC Silicon Valley by December 5 to join this important discussion.