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Xu, H. Helmy Eltoukhy. Encyclopedia. Available online: (accessed on 06 December 2023).
Xu H. Helmy Eltoukhy. Encyclopedia. Available at: Accessed December 06, 2023.
Xu, Handwiki. "Helmy Eltoukhy" Encyclopedia, (accessed December 06, 2023).
Xu, H.(2022, October 28). Helmy Eltoukhy. In Encyclopedia.
Xu, Handwiki. "Helmy Eltoukhy." Encyclopedia. Web. 28 October, 2022.
Helmy Eltoukhy

Helmy Eltoukhy is an American scientist and entrepreneur, best known for his contributions to genomics, semiconductor DNA sequencing, and personalized medicine. The co-founder of startups Avantome and Guardant Health, Eltoukhy was named to Time (magazine) ’s inaugural 50 Most Influential People in Healthcare (2018) and Fortune’s 40 under 40 (2017). Acquired by Illumina in 2008, Avantome was founded to develop and commercialize semiconductor-based DNA sequencing, during the race for the $1,000 genome. Guardant Health was founded to pioneer non-invasive liquid biopsy approaches for cancer diagnosis, monitoring, personalized medicine treatment, and research.

personalized medicine liquid biopsy illumina

1. Education

Eltoukhy attended Bellarmine College Preparatory, studying college level math during his freshman year,[1] and graduating in 1997.[2] Subsequently, Eltoukhy studied electrical engineering at Stanford University, completing an accelerated Bachelor of Science (BS) in two and a half years,[1] followed by Master of Science (MS) and Doctorate (PhD) degrees.[3] Eltoukhy’s doctoral thesis, “An integrated system for de novo DNA sequencing” research was completed in the laboratory of Abbas El Gamal, for a project that combined genomics and sensor engineering.[3][4][5][6] 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.[1]

2. Career

2.1. Genome Technology Center

After graduation, Eltoukhy completed a post-doctoral fellowship at Stanford University’s Genome Technology Center,[3] investigating low-cost DNA sequencing technologies as part of the Human Genome Project.[7] 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).[8][9]

2.2. 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.[3][10][11] Eltoukhy was president and CEO of the new company until 2008, when Avantome was acquired by Illumina.[10][12] 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.[3] At Illumina, Avantome’s CMOS/semiconductor sequencing platform became the basis for Project Firefly, a program to develop an "integrated sequencing solution simple and affordable enough to install in hospitals for routine testing".[10][13] 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.[12][14]

2.3. Guardant Health

In 2012, Eltoukhy and AmirAli Talasaz co-founded Guardant Health, established to "forge a new frontier" in cancer detection and treatment using artificial intelligence[15] and a big data approach.[16][17] 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.[16][17][18]

Under Eltoukhy’s direction as CEO, Guardant Health raised over one billion dollars (US) in financing,[19][20] launched three products, established collaborations with oncology researchers, and gained recognition as a healthcare innovator in liquid biopsy approaches used for cancer diagnosis and research.[15][18][21][22] Named as a World Economic Forum Technology Pioneer[21][23] and to Fierce Biotech's Fierce 15 list[24] in 2015, the company launched Guardant360, the first commercially available comprehensive liquid biopsy for cancer in 2014.[25][26][27] The test uses a combination of genomics and signal processing innovations to simultaneously profile the mutational signature of several (54 at time of product launch; 74 as of 2019)[28] circulating tumor DNA genes in patient blood samples.[23][29][30] By 2016, the test was in use by oncologists to guide personalized treatment plans for late-stage cancer patients,[18][31] and to pair advanced cancer patients with clinical trial opportunities.[26][32] The Food and Drug Administration granted Guardant360 Expedited Access Pathway status in 2018.[33] GuardantOMNI, an expanded testing panel measuring levels of 500 circulating tumor DNA (ctDNA) genes, was launched in 2017.[28][34] Released for research use in 2019, LUNAR is an assay for high sensitivity detection of changes in genomic and epigenetic signatures of ctDNA in early stage and recurring cancers.[29][31][34]

In 2017, a venture capital funding round led by SoftBank raised $360 million,[26] allowing Guardant Health to expand operations globally[35] and continue to focus on accelerating progress towards early cancer detection.[31][36] Eltoukhy and Talasaz rang the opening bell at the Nasdaq when Guardant Health went public (IPO) on October 4, 2018.[37] In January 2019, Guardant Health entered a partnership with pharmaceutical company AstraZeneca to develop companion diagnostics.[38][39] 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.[40][41]

3. Representative Publications

3.1. Journal Articles

  • El Gamal A and Eltoukhy H (2005) CMOS image sensors. IEEE Circuits and Devices Magazine 21(3), 6-20[42]
  • 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)[43]
  • Lanman et al. (2015) Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA. PLOS One PMID 26474073[44]
  • Odegaard J et al. (2018) Validation of a Plasma-Based Comprehensive Cancer Genotyping Assay Utilizing Orthogonal Tissue- and Plasma-Based Methodologies. Clinical Cancer Research 24(15) 3539-3549.PMID 29691297
  • Zill OA et al. (2018) The Landscape of Actionable Genomic Alterations in Cell-Free Circulating Tumor DNA from 21,807 Advanced Cancer Patients. Clinical Cancer Research 24(15), 3528-3538 PMID 29776953

3.2. Patents

  • ; Helmy Eltoukhy & Leila Bazargan"Engineered luciferases" patent US20090286299A1, assigned to Illumina, Inc.
  • ; Helmy Eltoukhy & Khaled Salama"Biological analysis arrangement and approach therefor" patent US8313904B2, issued 20 Nov 2012, assigned to Stanford University
  • & Helmy Eltoukhy"Multibase delivery for long reads in sequencing by synthesis protocols" patent US8236532B2, issued 7 Aug 2012, assigned to Illumina, Inc.
  • & AmirAli Talasaz"Methods and systems for detecting genetic variants" patent EP3087204B1, issued 14 Feb 2018, assigned to Guardant Health, Inc.
  • & Helmy Eltoukhy"Methods to detect rare mutations and copy number variation" patent EP2893040B1, issued 2 Jan 2019, assigned to Guardant Health, Inc.
  • ; Helmy Eltoukhy & Stefanie Ann Ward Mortimer et al."Methods for multi-resolution analysis of cell-free nucleic acids" patent US9850523B1, issued 26 Dec 2017, assigned to Guardant Health, Inc.

4. Recognition

Eltoukhy was named to Fortune’s 40 under 40 in 2017,[45][46] and the San Francisco Business Times 40 under 40 in 2019.[47] He has served as an invited speaker or panelist at the World Economic Forum,[48] Fortune Brainstorm Health 2017,[49] The Business of Personalized Medicine Summit 2018,[50][51] HLTH (healthcare innovation) 2018,[52] and the World Medical Innovation Forum 2016.[53]


  1. Hindery, Robin (2015). "Keeping Pace with Cancer: Helmy Eltoukhy's startup, Guardant Health, is making waves in the healthcare world by using cutting-edge DNA sequencing technology to track cancer in real time". Gentry Health (California, USA: The Golden State Company): 108–109.{%22issue_id%22:%22250930%22,%22page%22:10}. Retrieved 19 Nov 2019. 
  2. "BellarmineBells". Bellarmine College Preparatory. 23 Mar 2016. 
  3. "Illumina to Buy Avantome for Up to $60M; Long, Cheap Reads Will Target Sanger". 29 Jul 2008. 
  4. "Stanford Engineering, Abbas El Gamal - Previous Students". Stanford University. 2019. 
  5. Eltoukhy, Helmy (2006). An integrated system for de novo DNA sequencing (Thesis). Stanford University. OCLC 71209106. //
  6. Dan V. Nicolau; Ramesh Raghavachari; Society of Photo-optical Instrumentation Engineers (2003). "Modeling and simulation of luminescence detection platforms (Salama K, Eltoukhy H, Hassabi A, and El-Gamal A)". Microarrays and combinatorial technologies for biomedical applications: design, fabrication, and analysis. SPIE. ISBN 978-0-8194-4766-1. Retrieved 22 October 2019. 
  7. "Human Genome Project Completion: Frequently Asked Questions". National Human Genome Research Institute. 
  8. "NHGRI Seeks Next Generation of Sequencing Technologies". 14 Oct 2004. "Mostafa Ronaghi, Stanford Genome Technology Center, $1.8 million (3 years) "Pyrosequencing Array for DNA Sequencing"" 
  9. Ron Kerr, Helmy Eltoukhy, Bambi Francisco (23 Feb 2016). $1,000 is the "right price" for human genome (video). Vator. Retrieved 22 Oct 2019.
  10. Carroll, John (23 Jul 2008). "Illumina snares sequencing tech in $60M buyout". Questex, LLC. 
  11. "Helmy Eltouhky". 2019. 
  12. "Illumina Unveils Mini Targeted Sequencer, Semiconductor Sequencing Project at JP Morgan Conference". GenomeWeb (USA). 11 Jan 2016. 
  13. "At AGBT, Illumina Provides Additional Details on Project Firefly". 12 Feb 2016. 
  14. "Illumina Launches Semiconductor Sequencer, Partners With Thermo Fisher, Releases Prelim Earnings". 9 Jan 2018. 
  15. Medeiros, Joao (7 Feb 2019). "How SoftBank ate the world: Led by the charismatic Masayoshi Son, Japanese conglomerate SoftBank's Vision Fund is taking over tech, one company at a time. This is the story of what happens if the disruptors are disrupted.". Wired. 
  16. Leuty, Ron (11 May 2017). "Blood money: Peninsula liquid biopsy company gets $360M injection". San Francisco Business Times. 
  17. "Blood-based liquid biopsies are the new frontier in cancer diagnosis". Questex, LLC. 20 Jul 2015. 
  18. Cha, Ariana Eunjung (28 Apr 2016). "There's a new sheriff in town in Silicon Valley — the FDA". The Washington Post (San Francisco, CA, USA). 
  19. Terry, Mark (10 Sep 2018). "2 Bay Area Biotechs Launch IPOs Worth a Combined $200 Million". BioSpace. 
  20. Fox, Michelle (4 Oct 2018). "Guardant Health soars almost 70% in first day of trading". CNBC (USA). 
  21. Tansey, Burnadette (19 Sep 2014). "Forum Highlights Innovators Working in Global Public Interest". Xconomy, Inc.. 
  22. Leuty, Ron (22 Jan 2015). "9 potential life science IPOs to watch". San Francisco Business Times (USA). 
  23. Shinal, John (20 Feb 2015). "More-accurate cancer tests based on computer math". USA Today. 
  24. Al Idius, Amirah (11 Dec 2017). "FierceMedTech's Fierce 15, 2017". Questex, LLC. 
  25. Hay, Timothy (17 Jul 2015). "Liquid Biopsy the Key to 'Active Surveillance' of Cancer, Guardant Health Says". The Wall Street Journal (USA). 
  26. Sawers, Paul (11 May 2017). "Cancer screening firm Guardant Health raises US$360 million to sequence tumor DNA of 1 million patients". VentureBeat (USA). 
  27. Regalado, Antonio (24 Jun 2015). "The Great Cancer Test Experiment". MIT. 
  28. Harper, Matthew (12 Nov 2018). "A $3 Billion Startup's Shares Gain On Hopes For A Cancer Blood Test". Forbes. 
  29. O'Connor, Leo (9 Jan 2019). "JP Morgan Healthcare, Day 2: Thermo Fisher, Exact Sciences, Guardant, Hologic, Caris, and More". 
  30. Arun Rao; Piero Scaruffi (2013). A History of Silicon Valley: The Greatest Creation of Wealth in the History of the Planet. Omniware Group. ISBN 978-1-4903-3040-2. Retrieved 8 November 2019. 
  31. Philippidis, Alex (27 Mar 2019). "Five-Year Super Successes in Genomics and Precision Medicine". ClinicalOmics. 
  32. Teichert, Erica (20 Aug 2016). "Innovations: Startup's liquid biopsies match cancer patients with trials". Crain Communications. 
  33. "FDA Grants EAP Designation to Guardant's NGS-Based Liquid Biopsy". FDA News. 22 Feb 2018. 
  34. Philippidis, Alex (14 Jan 2019). "Guardant Health Launches Blood-Based Early Cancer Assay for Research Use". Genetic Engineering and Biotechnology News (Mary Ann Liebert). 
  35. Baker, Liana; Roumeliotis, Greg (19 May 2017). "Dealmakers aplenty, SoftBank's Son looks for wonks". Reuters. 
  36. Terry, Mark (28 Feb 2019). "Guardant Health's Liquid Biopsy Wins in Head-to-Head Trial in Lung Cancer". 
  37. "Opening Bell, October 4, 2018: Ringing today's opening bells are Mateusz Morawiecki, Republic of Poland prime minister, at the NYSE, and Guardant Health with CEO Helmy Eltoukhy and President AmirAli Talasaz at the Nasdaq.". CNBC. 4 Oct 2018. 
  38. Hale, Connor. "Guardant's blood test tracks microsatellite instability status on par with tissue biopsy in new study". Quantex, LLC. 
  39. "Guardant Health to Develop Blood-Based CDx for AstraZeneca Drugs". GenomeWeb. 13 Dec 2018. 
  40. Lovelace, Jr., Berkeley (3 Jun 2019). "We're not far from using blood tests to detect early-stage cancer, says CEO of Silicon Valley oncology firm". CNBC. 
  41. Columbus, Gina (24 Oct 2019). "Pivotal Study Examines Blood Test as CRC Screening Method". Intellisphere, LLC. 
  42. El Gamal, A; Eltoukhy, H (2005). "CMOS image sensors". IEEE Circuits and Devices Magazine 21 (3): 6–20. doi:10.1109/MCD.2005.1438751. Retrieved 9 Nov 2019. 
  43. Eltoukhy, H; Salama, K; El Gamal, A (March 2006). "A 0.18-/spl mu/m CMOS bioluminescence detection lab-on-chip". IEEE Journal of Solid-State Circuits 41 (3). doi:10.1109/JSSC.2006.869785.
  44. Lanman, Richard B.; Mortimer, Stefanie A.; Zill, Oliver A.; Sebisanovic, Dragan; Lope, Rene; Blau, Sibel; Collisson, Eric A.; Divers, Stephen G et al. (16 Oct 2015). "Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA". PLOS One 10 (10): e0140712. doi:10.1371/journal.pone.0140712. PMID 26474073. Bibcode: 2015PLoSO..1040712L.
  45. "Fortune's 40 under 40 (2017)". Fortune. 2017. 
  46. "Fortune Magazine – Guardant Health CEO And President On This Year's "40 Under 40" List". California Life Sciences Association. 2017. 
  47. "40 Under 40 Awards". 2019. 
  48. "Convening Innovators from the Science and Technology Communities". World Economic Forum. 2014. 
  49. Mukhurjee, Sy (3 May 2017). "This Simple Cancer Test Comes With a Big Caveat". Fortune Media IP Limited. 
  50. "The Business of Personalized Medicine". BPM Summit. 2018. 
  51. "Very Brief Blog: Bay Area "Business of Personalized Medicine Summit" - December 6, 2018". Discoveries in Health Policy: Ideas for or from an evolving healthcare system. 2018. 
  52. "HLTH Announces First 150+ Senior Healthcare Executive Speakers, Including 100+ CEOs and Founders". The Kennedy Forum. 5 Oct 2017. 
  53. "World Medical Innovation Forum 2016". World Medical Innovation Forum. 2016. 
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