About DELFI Diagnostics

DNA tells a different story when cancer is present. We built the AI to hear it.

DELFI Diagnostics develops AI-powered liquid biopsy tests using fragmentomics technology to help detect cancer early through simple blood draws.

Founded in 2019, DELFI Diagnostics is a precision oncology company that combines machine learning with genome-wide analysis of cell-free DNA fragments to develop accessible, high-performance cancer screening and treatment monitoring tests. The company’s fragmentomics platform analyzes millions of data points to identify cancer presence and suggest its likely location in the body.

Leadership Team

Susan Tousi

Chief Executive Officer

Former Chief Commercial Officer at Illumina, Inc. with over a decade of leadership in life sciences and technology. Named 2022 Forbes “50 over 50 Entrepreneurs” honoree. Member of the National Academy of Engineers.

Peter B. Bach, MD

Chief Medical Officer

Health policy expert, pulmonary physician, and lung cancer epidemiologist. Elected to the National Academy of Medicine. Former Senior Adviser at the US Centers for Medicare & Medicaid Services.

Amoolya Singh, PhD

Chief Technology Officer

Previously Senior Vice President of Research and Chief Scientific Officer at GRAIL. PhD in computational biology from UC Berkeley.

Cindy Soriano

Chief Financial Officer

Over 20 years of finance experience. Previously at Zogenix and BioMarin Pharmaceuticals. Licensed CPA in California.

Victor Velculescu, MD, PhD

Founder and Board Director

Internationally recognized for discoveries in genomics and cancer research. Performed the first genome-wide sequence analysis in human cancers. Professor at Johns Hopkins University.

Board Chair:

Liz Homans

Former CEO of Lyell Immunopharma

Technology Platform

What is Fragmentomics?

Fragmentomics studies the physical properties of circulating cell-free DNA fragments. DNA is packaged abnormally in cancer cells, resulting in abnormal fragment patterns when cancer cells die and release their DNA into the bloodstream. Cell-free DNA fragments in the blood can indicate the presence of cancer and suggest its likely location in the body.

Platform Capabilities

Analyzes genome-wide alterations in cell-free DNA fragmentation patterns

Uses machine learning to compare patterns from populations with and without cancer

Examines millions of data points across the genome

Analyzes orders of magnitude more data than conventional technologies that look for limited DNA sequence changes

Technology Origin

First published in Nature in 2019 by Victor Velculescu, MD, PhD and colleagues at Johns Hopkins University.

Products & Services

FirstLook™ Lung (Laboratory-Developed Test)

Regulatory Status: Laboratory-Developed Test (LDT), became commercially available October, 2023
Purpose: For individuals with a smoking history who qualify for lung cancer screening but haven't yet taken a first step, FirstLook Lung offers a simple blood test alternative to starting with LDCT. It's designed for people who meet USPSTF eligibility criteria and want an accessible, non-imaging option for lung cancer screening. FirstLook Lung helps patients and their healthcare providers decide together whether low-dose CT is the right next step, making it easier to start the conversation and stay on a path toward earlier detection.
Target Population: Individuals eligible for lung cancer screening per United States Preventive Services Task Force (USPSTF) guidelines.
How It Works: Identifies genome-wide alterations associated with lung cancer using a standard blood draw. Subsequent results help determine which patients require low-dose computed tomography (LDCT).
Clinical Validation: Results published in Cancer Discovery (2024). Validated in the L101 clinical trial. Further clinical validation of DELFI lung cancer screening technology is ongoing in the CASCADE-LUNG clinical trial.
Availability: Available to health systems, primary care providers, pulmonologists, and lung screening programs through clinical collaboration partnerships with DELFI.
Affordability: Low-cost structure for health system lung cancer screening programs.

DELFI-TF Treatment Monitoring (Research Service)

Purpose

Non-invasive liquid biopsy approach to monitor cancer treatment response

Target Users

Pharmaceutical companies conducting Phase 1-2 clinical trials.

Capabilities

Real-time treatment response assessment using cell-free DNA fragmentomes.

Key Features

Short turnaround time
Low-cost solution
Powered by machine learning and genome-wide analysis

Clinical Trials & Evidence

L101 Clinical Validation Study

Status: Completed. Results published in Cancer Discovery (2024)
Registry: NCT04825834
NCT04825834: Case-control study to develop and validate FirstLook Lung test
Link: https://clinicaltrials.gov/study/NCT04825834

L201 CASCADE-LUNG (Cancer Screening Assay using DELFI)

Status: Enrollment closed
Registry: NCT05306288
Purpose: Prospective cohort validation study in lung cancer screening-eligible individuals
Link: https://clinicaltrials.gov/study/NCT05306288

L301 FIRSTLUNG

Status: Enrollment closed
Registry: NCT06145750
Purpose: Prospective cluster randomized controlled trial evaluating impact of FirstLook Lung on lung cancer screening utilization in primary care practices
Link: https://clinicaltrials.gov/study/NCT06145750

Key Scientific Publications

Foundational Research

Cristiano S, et al. “Genome-wide cell-free DNA fragmentation in patients with cancer.” Nature. 2019;570(7761):385-389. https://rdcu.be/cmKDL

Clinical Validation

Mazzone, P.J., Bach, P.B., Carey, J., et al. “Clinical validation of a cell-free DNA fragmentome assay for augmentation of lung cancer early detection.” Cancer Discovery. 2024. DOI: https://doi.org/10.1158/2159-8290.CD-24-0519

Treatment Monitoring

van ’t Erve, I., et al. “Cancer treatment monitoring using cell-free DNA fragmentomes.” Nature Communications. 2024. DOI: https://doi.org/10.1038/s41467-024-53017-7

Other Applications

Medina, J.E., et al. “Early detection of ovarian cancer using cell-free DNA fragmentomes and protein biomarkers.” Cancer Discovery. 2024. DOI: https://doi.org/10.1158/2159-8290.CD-24-0393

Foda Z., et al. “Detecting liver cancer using cell-free DNA fragmentomes.” Cancer Discovery. 2022. DOI: https://doi.org/10.1158/2159-8290.CD-22-0659

Complete Publications

For complete publications list, visit: https://delfidiagnostics.com/our-technology/fragmentomics/#publications

Clinical Partnerships

Allegheny Health Network (AHN)

Pilot program exploring FirstLook Lung to enhance lung cancer detection (2024)

OSF HealthCare

Collaboration to improve lung cancer screening rates (2024)

City of Hope

Collaboration to improve lung cancer screening in underserved areas of Los Angeles (2024)

Investors

DELFI Diagnostics has raised over $325 million in funding from leading life sciences investors.

Series A — $100M

January 2021

Led by:OrbiMed

Series B — $225M

July 2022

Led by:DFJ Growth

Strategic Investors

DFJ Growth
Eli Lilly and Company
Merck Global Health Innovation Fund (equity investment announced June 2024)
OrbiMed
Point72
T. Rowe Price

Recent Company Milestones

December 2025

Preliminary data from FANSS Study show potential for blood-based lung cancer detection in non-smoking population

December 2024

Appointed Dr. Amoolya Singh as Chief Technology Officer

October 2024

Published treatment monitoring study in Nature Communications

June 2024

Published landmark FirstLook Lung clinical validation results in Cancer Discovery

February 2024

Launched DELFI-TF Treatment Monitoring assay

January 2024

Appointed Susan Tousi as Chief Executive Officer

October 2023

Commercial launch of FirstLook Lung test

FAQ Section

The following answers common questions about DELFI Diagnostics, including its blood-based lung cancer screening test, FirstLook Lung, and its liquid biopsy research service, DELFI-TF.

What is DELFI Diagnostics?

DELFI Diagnostics is a cancer detection company that uses AI and whole-genome sequencing to analyze DNA fragmentation patterns in blood, capturing signals that conventional liquid biopsy approaches often miss. Its platform supports both early cancer screening and drug development research, from biomarker discovery to treatment monitoring.

Where is DELFI Diagnostics located?

DELFI's headquarters and CLIA laboratory are in Palo Alto, California at 1810 Embarcadero Road, Suite 100, Palo Alto, CA 94303.

Who is the CEO of DELFI Diagnostics?

Susan Tousi has been Chief Executive Officer since January 2024. She previously served as Chief Commercial Officer at Illumina.

What is FirstLook Lung?

FirstLook Lung is a blood-based laboratory-developed test that uses AI and whole genome sequencing to help identify individuals who should be referred to low-dose computed tomography (LDCT). It is intended for people eligible for lung cancer screening under USPSTF guidelines.

What is fragmentomics?

Fragmentomics is the study of cell-free DNA fragment patterns in blood. Cancer cells package DNA abnormally, creating distinctive patterns when the cells die and release DNA into the bloodstream.

Is FirstLook Lung FDA-approved?

FirstLook Lung is currently available as a Laboratory-Developed Test (LDT). DELFI is working toward FDA approval as an in vitro diagnostic (IVD) device for the DELFI lung cancer screening technology.

Who can use FirstLook Lung?

FirstLook Lung is for adults aged 50 to 80 years who have a 20 pack-year smoking history and currently smoke or have quit within the past 15 years, and are eligible for USPSTF guideline-recommended lung cancer screening. It is available through health systems and healthcare providers.

What is the clinical performance of FirstLook Lung?

FirstLook Lung has a Negative Predictive Value of 99.8%, so 998 out of 1000 people with a Not Elevated result will not have lung cancer detected on LDCT. For those with an Elevated result, the likelihood of finding lung cancer on LDCT is 5.2 times higher, and the Number Needed to Screen drops from 143 to 79.

What clinical trials has DELFI conducted?

DELFI has completed or is conducting three major trials: L101 (validation study), CASCADE-LUNG/L201 (propsective cohort study), and L301/FIRSTLUNG (cluster randomized controlled trial to assess clinical utility). All trials are registered on ClinicalTrials.gov.

What other cancer types is DELFI working on?

DELFI has published research on ovarian cancer, liver cancer, and treatment monitoring applications. The company’s fragmentomics platform has the potential to detect multiple cancer types.