Helmy Eltoukhy

Helmy Eltoukhy is an American scientist and a businessperson who co-founded startups Avantome and Guardant Health. Guardant Health was founded to pioneer non-invasive liquid biopsy approaches for cancer diagnosis, monitoring, personalized medicine treatment, and research.

He is best known for his contributions to genomics, semiconductor DNA sequencing, and personalized medicine. Avantome was acquired by Illumina in 2008. Avantome was founded to develop and commercialize semiconductor-based DNA sequencing during the race for the $1,000 genome. Subsequently, Eltoukhy studied electrical engineering at Stanford University, completing an accelerated Bachelor of Science (BS) in two and a half years, followed by Master of Science (MS) and Doctorate (PhD) degrees. Eltoukhy discovered that low cost CMOS image sensors coupled to light-emitting DNA sequencing reactions could form the basis for building a less expensive, portable DNA sequencer. Eltoukhy's research focused on developing new assays and detection methods, with an emphasis on semiconductor-based approaches for DNA sequencing. That research was funded, in part, by one of the first National Human Genome Research Institute grants awarded for massive parallel sequencing (also known as Next Generation Sequencing or NGS).

Avantome and Illumina In 2007, Eltoukhy and Mostafa Ronaghi co-founded the biotechnology startup company Avantome, to accelerate the commercialization of semiconductor sequencing technologies and affordable high-throughput DNA sequencing. As part of the acquisition terms, Ronaghi and Eltoukhy joined Illumina, where Eltoukhy continued pioneering genomic research as director of Advanced Sequencing Development until 2012. In 2018, Illumina launched iSEQ, a new product developed using Avantome's CMOS sensor approach combined with nanowell technology; iSEQ delivered on the original Avantome goals of low cost instrumentation and reduced per-sample processing cost in a long read format.

Guardant Health In 2012, Eltoukhy and AmirAli Talasaz co-founded Guardant Health, established for cancer detection and treatment using artificial intelligence and a big data approach. They developed new methods to detect and monitor the low levels of circulating tumor DNA (ctDNA) fragments released into the bloodstream of people who have cancer, enabling cancer detection and monitoring using minimally-invasive blood tests (liquid biopsies) which are lower cost and lower risk compared to traditional tissue biopsies. and launched three products. In 2014 the company launched Guardant360, the first commercially available comprehensive liquid biopsy for cancer. The test uses a combination of genomics and signal processing innovations to simultaneously profile the mutational signature of several circulating tumor DNA genes in patient blood samples. By 2016, the test was in use by oncologists to guide personalized treatment plans for late-stage cancer patients, and to pair advanced cancer patients with clinical trial opportunities. The Food and Drug Administration granted Guardant360 Expedited Access Pathway status in 2018. and continue to focus on accelerating progress towards early cancer detection. In January 2019, Guardant Health entered a partnership with pharmaceutical company AstraZeneca to develop companion diagnostics. In October 2019, the company initiated ECLIPSE, a 10,000 patient colorectal cancer study, in an effort to evaluate the effectiveness of using blood tests to screen for colorectal cancer in the general population.

Guardant's blood-based in vitro diagnostic test for detecting colorectal cancer, Shield, received FDA approval on July 26, 2024.

Representative publications Journal articles El Gamal A and Eltoukhy H (2005) CMOS image sensors. IEEE Circuits and Devices Magazine 21(3), 6-20 Eltoukhy H et al. (2006) A 0.18-/spl mu/m CMOS bioluminescence detection lab-on-chip. IEEE Journal of Solid-State Circuits 41(3)

Patents Engineered luciferases, (2009). Biological analysis arrangement and approach therefor, (2012). Multibase delivery for long reads in sequencing by synthesis protocols, (2012). Methods and systems for detecting genetic variants, (2015). Methods to detect rare mutations and copy number variation, (2016). Methods for multi-resolution analysis of cell-free nucleic acids, (2017).

Personal life Helmy Eltoukhy was born and raised in the San Francisco Bay Area. He is currently in the process of legally dissolving his marriage to Carson Eltoukhy.

In December 2024, Eltoukhy was announced as co-chairman of English football club Sheffield United alongside fellow American businessman Steve Rosen. The club was taken over by the consortium group COH Sports led by Eltoukhy and Rosen.

Recognition Eltoukhy was named to Time Magazine's inaugural 50 Most Influential People in Healthcare in 2018, Fortune's 40 under 40 in 2017, He has served as an invited speaker or panelist at the World Economic Forum, Fortune Brainstorm Health 2017, and The Business of Personalized Medicine Summit 2018.

Eltoukhy was named to Time Magazine's inaugural 50 Most Influential People in Healthcare (2018) and Fortune's 40 under 40 (2017).