Genome sequencing is transforming patient care, disease tracking, and personalized medicine. While costs of genome sequencing have dropped significantly over the past decade, challenges remain in ensuring wider access. To address these issues, the Global Innovation Index (GII) and Global Health Units at WIPO co-organized the 3rd GII iLens Innovation Data Lab on March 4, 2025, to discuss genome sequencing’s evolving cost trends.
What is genome sequencing?
The genome is the complete set of DNA, i.e., Deoxyribonucleic acid (molecules in cells that carry genetic information), that contain all the instructions needed for an organism to develop and function. Genomic sequencing is a laboratory method used to examine the complete makeup of genomes. It helps scientists identify changes or abnormalities in genes, which can improve our understanding of diseases.
Genome sequencing allows scientists and medical professionals to detect genetic and rare diseases early, enhancing diagnosis and treatment. In infectious diseases, genome sequencing helps track outbreaks, detect new variants, and develop targeted treatments and vaccines. It also plays a key role in monitoring antimicrobial resistance (AMR) by identifying bacteria that no longer respond to antibiotics, allowing us to control the spread of resistant infections. By providing detailed genetic insights, genome sequencing improves disease prevention, treatment, and overall public health strategies.
Falling cost of genome sequencing
The cost required to sequence a genome is a critical factor driving innovation in healthcare and improving access to diagnosis and treatment. The cost of sequencing a whole genome has dropped dramatically, from approximately USD 100 million in 2001 to just over USD 500 in 2023 in the United States.
Looking ahead, new metrics will be needed to track the progress of advanced sequencing technologies. Additionally, pricing and accessibility outside United States (U.S.), particularly in low and middle income nations, must be further assessed to ensure global equity in genomic innovation.
3rd Edition of the GII iLens Innovation Data Lab
The GII iLens Innovation Data Lab (the Lab) is an initiative of WIPO’s Global Innovation Index (GII) team that tracks global innovation trends, including in the healthcare sector. The Lab, in collaboration with WIPO’s Global Health Unit, hosted a session with key stakeholders in the field of genomics to discuss how to measure genome sequencing costs and their impact on public health. Discussions focused on current and future sequencing capabilities and key metrics that are relevant to track impact.
The session was opened by Kris Wetterstrand of the National Human Genome Research Institute, U.S., who presented her research showing that cost of sequencing a whole genome dropped sharply post-2007 due to technological advancements, reaching USD 1,000 by 2022. She was joined by Stacey Gabriel from the Broad Institute in the U.S. and Yin Ye from the BGI Group in China, who noted that the cost has fallen further to USD 350 since 2022 and could drop to as low as USD 10 in the near future making sequencing widely accessible and accelerating genomics research. The discussion on cost trends was complemented with insights from public health experts in a second discussion panel.
Safonias Tessema from Africa Centers for Disease Control and Prevention (Africa CDC) highlighted the heterogeneity in cost distribution across regions. Specifically, for Africa, he explained the challenges of genome sequencing in the continent are unique, where costs remain high (reaching up to $4,500) due to import tariffs, limited reagent availability, and expensive logistics. Despite these hurdles, Africa has expanded its sequencing facilities from 7 to 46, achieving notable successes such as sequencing Ebola within 24 hours and rapidly developing Mpox diagnostics.
Wendy Chung from Boston’s Children’s Hospital, U.S., spoke of the potential for genome sequencing in early genetic disorder detection, which can reduce long-term healthcare costs. Murray Aitken from IQVIA, U.S., provided an economic perspective on genome sequencing, highlighting its growing value in drug development, personalized medicine, and precision therapies. He also emphasized the need to track genomic data, clinical trials, and return on investments.
The session concluded with a presentation by Swapna Uplekar, a genomics expert from FIND, who shared insights from FIND’s work with the World Health Organization (WHO) and Unitaid on using genome sequencing to develop drug-resistant TB diagnostics. She also underscored the importance of genomic surveillance in infectious disease outbreaks and emphasized that the submission of data from Low and Middle Income Countries (LMICs) was significantly lower during the COVID-19 pandemic, indicating need for more investments in genomic surveillance in LMICs.
The chair of the session, Sacha Wunsch-Vincent, Head, Section, Department of Economics and Data Analytics at WIPO, which spearheads the GII, lauded the experts for their insights. He noted that the information shared would be key in capturing genome sequencing cost trends. He also joined the experts in emphasizing the need to consider metrics such as the quality of genome sequencing, genomic surveillance, the heterogeneity of costs across regions, and the costs associated with different types of sequencing methods and the time it takes for benefits to reach patients.
Conclusion
The GII iLens Innovation Data Lab is making significant strides in tracking genome sequencing innovations and their costs. Genome sequencing, if made more affordable and accessible, has the potential to revolutionize healthcare. Developing the right cost tracking metrics will be crucial in assessing progress and ensuring these advancements benefit global health. WIPO’s GII team’s work can play a supporting role in guiding policy decisions and fostering equitable access to these groundbreaking healthcare technologies.