80% of Rare Diseases are Linked to Differences in DNA: hear from Genome England, AOU, MVP, AZ 2M study – PMWC23 FULL PROGRAM IS LIVE

Large-scale omics initiatives (i.e., population studies) that generate and collect human genomic data are evolving rapidly across the globe in both the private and public sectors – here are some amazing genome study numbers associated with roughly 190 global large-scale genomic initiatives (status quo February 2020):

• ~38 million genomes or fractions of genomes had been analyzed ranging from genotyping to whole genome sequencing
o ~50% originated in the U.S., 19% in Europe, and 13% in Asia – with only 32% being public initiatives in the U.S. versus 50% in Europe.
• Projected to grow to ~52 million by 2025 with 35 million in the U.S. alone, 5.5 million in Europe, and 6.5M in Asia.
• ~53% focus on oncology, 13% on rare diseases, and 10% on CNS disorders.
• 42% of databases link their genomic data to patient demographic information or clinical data, among which 28% of initiatives link to EMR/EHR and clinical data.
o However, only 10% of all databases link to EMR/EHR, 18% to some clinical data, 11% to trait/phenotype data, and 10% do not link to any data.
• Prominent examples include:
o Genomics England: 100,000 whole genomes linked to EMR/HER data. New target: 5 million
o ‘All of Us’ Precision Medicine Initiative: Target 1+ million biological samples linked to EMR/EHR data.
o Million Veteran Program: 900,000 biological samples linked to clinical data. Target: 1 million
o AstraZeneca (private): 2 million whole exome data with integrated health records data.
o 23andMe (private): Research cohort of 10 million genotyping data linked to survey data.
o Million Health Discoveries (Mount Sinai & Regeneron, private): Target 1 million racially and ethnically diverse patients.

The impact of these various initiatives is demonstrated by the 100,000 Genomics England Initiative which shows that 18.5% of the project data has been turned into actionable findings and with 80% of rare diseases linked to differences in DNA. Furthermore, this initiative focused on whole genome sequencing led to new diagnosis (cancer and rare diseases) for 25% of participants, of which 14% where in regions of the genome that would have been missed by other methods.

While these numbers are certainly impressive, the medical utility of the various data across initiatives varies widely. That is based on the number of genomes collected, the completeness of the genomic data, the diversity of the cohort, linkage to other healthcare data, and the disease(s) covered. To touch upon the many successes, learnings, advancements, and challenges of population scale omics studies, we designed the Population Scale Omics Track chaired by Sharon Terry (Genetic Alliance) on Day 3 of the PMWC January 25-27, 2023 Silicon Valley conference (Just Released 6-Track Program).

Below are session and speaker highlights:

  • Honoring David Bentleyfor his leadership role in the Human Genome Project, the Single Nucleotide Polymorphisms (SNP) Consortium, the International Haplotype Mapping (HapMap) Project, and the 100,000 Genomes Project.
  • Learnings and Advancements of Population Studies: Chaired by Emma Stanton (Oxford Nanopore). Speakers include Gonçalo Abecasis (Regeneron), Slavé Petrovski (AstraZeneca, 2M study) and Alexander Charney (Mount Sinai).
  • Increasing Diversity in Population Studies: chaired by Manual Rivas (Global Biobank Engine, Stanford Rivas Lab).
  • Precision Medicine in Understudied Populations: chaired by Ryan Taft (Illumina)
  • Building Future Precision Care in Qatar: Chaired by Khalid Fakhro (Sidra Medicine) with Ziyad Hijazi (Sidra Medicine) and Edison Liu (Jackson Lab)
  • Challenges and Opportunities for National Precision Medicine Initiatives: A panel chaired by Alessandro Ricommbeni (Microsoft UK) with Catalina Lopez-Correa (Genome Canada) and Khalid Fakhro (Sidra Medicine).
  • Framework to Improve the Translation of Genomics into The Clinic: Panel chaired by Kathleen Barnes (Tempus Labs) with Carlos Bustamante (Galatea Bio) and Ora Gordon (Providence).
  • Identifying Relationships Between Disparate Data Sets to Monitor and Control Pathogen Outbreak: Panel chaired by Charles Chiu (UCSF) with Amy Kirby (CDC) and Smruthi Karthikeyan (UCSD).


Learn more from leaders in the field of large-scale omics studies, how to avoid methodological pitfalls, be it on the data generation side, data interpretation and findings extraction side, or on the topic of building and maintaining infrastructures required to manage and analyze the data of large-scale studies, while keeping patient data security as a top priority. This track promises to be dynamic with an exchange of important ideas. –Register ahead of the rate deadline for a discounted ticket.


Tal Behar
President & Co-founder, PMWC
PMWC 2023 Silicon Valley – January 25-27, 2023