Precision Therapeutics Services

Empower your decision-making with expertly curated evidence while saving valuable time and resources by partnering with our team of genomic scientists.

Gain powerful insights by partnering with our expert team, who are enabled by unmatched access to published genomic research, meticulously curated data, and innovative curation technology.

Custom Genomic Services

Variant Landscape

Design evidence-based inclusion criteria and CDx submissions with complete knowledge of the landscape of causative variants for your disease of interest

Patient Landscape

Strengthen your trial design with complete knowledge of published patients alongside their demographics, clinical presentation, and full genotype

Custom Knowledgebase

Work with us to design and develop a custom genetic knowledgebase that fits your needs, including, for example, target ID, risk factor analysis, indication/label expansion, and prevalence estimation


We’re here to support you with commercial validation, regulatory submissions, data analysis/informatics, publications/posters, speaking engagements, and more

Our Offerings For Precision Therapeutics

Precision Therapeutics Uses

Partner with us to gain the most complete view of the genetics of your disease of interest to drive informed decision-making throughout the entire drug development life cycle.


Accelerate review of the literature and ensure comprehensive results with easy access to the entirety of published genomic research.

Somatic Knowledgebase

Accelerate interpretation of complex cancer genomic profiles with expertly curated evidence for somatic variants.

Some of our Publications and Resources

The following publications highlight the impact of Genomenon’s custom genomic services in research and drug development. Whether conducting meta-analyses of biomedical literature to centralize and disseminate variant information or estimating the genetic prevalence of allele frequencies from population databases, our team of scientists and curators will partner with you every step of the way.

Estimation of ENPP1 Deficiency Prevalence

Chunn, L.M., Bissonnette, J., Heinrich, S.V. et al. Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases. Orphanet J Rare Dis 17, 421 (2022).

Read publication here

Novel PHEX gene locus-specific database

Sarafrazi S., Daugherty S.C., Miller, N. et al. Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH). Human Mutation 43:143–157 (2021).

Read publication here

Regulatory support with Loxo@Lilly

Loxo@Lilly discusses how they partnered with Genomenon to respond to requests from the Japanese regulatory agency.

Watch Webinar here

Meet Some of Our Precision Therapeutic Scientists

"As a rare disease patient myself, the fact I was able to curate variants in PIK3R1/PIK3CD to improve the diagnostic yield of APDS patients is extremely fulfilling."

Jessica Farmer Bugarin, MS
Curation Scientist

"Enhancing research knowledge on Fabry disease through the submission of FDA verified pathogenic variants is not only beneficial to the rare disease community but gratifying in the ability to help patients and families by shedding light on the disorder."

Natalie Syverud, MS
Curation Scientist

“Working on pharma projects and being part of a team that helps reach greater goals is an extremely challenging yet rewarding experience as navigating through curation challenges to bring forth the most accurate data that might impact a patient's outcome.”

Paty Romero, MB, MLS (ASCP)CM
Curation Scientist

Find out how you can include the right genetic insights into your drug program.