Helmy Eltoukhy

Last updated
Helmy Eltoukhy
Helmy Eltoukhy.jpg
Alma mater Stanford University
BS, Electrical engineering
MS, Electrical engineering
PhD, Electrical engineering
Stanford Genome Technology Center (Postdoc)
Known forCo-Founder & CEO, Guardant Health
Co-Founder & CEO, Avantome
SpouseCarson Eltoukhy (? - 2020)
Scientific career
Fields Genomics
Electrical engineering
Thesis An integrated system for de novo DNA sequencing
Doctoral advisor Abbas El Gamal [1] [2]

Helmy Eltoukhy is an American scientist and a businessperson who co-founded startups Avantome and Guardant Health . He is best known for his contributions to genomics, semiconductor DNA sequencing, and personalized medicine. His startups were acquired by Illumina in 2008. Avantome was founded to develop and commercialize semiconductor-based DNA sequencing, during the race for the $1,000 genome. [3] Guardant Health was founded to pioneer non-invasive liquid biopsy approaches for cancer diagnosis, monitoring, personalized medicine treatment, and research. [4] [5]

Contents

Education

Eltoukhy attended Bellarmine College Preparatory, studying college level math during his freshman year, [6] and graduating in 1997. [7] Subsequently, Eltoukhy studied electrical engineering at Stanford University, completing an accelerated Bachelor of Science (BS) in two and a half years, [6] followed by Master of Science (MS) and Doctorate (PhD) degrees. [8] 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. [1] [8] [9] [10] 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. [6]

Career

Genome Technology Center

After graduation, Eltoukhy completed a post-doctoral fellowship at Stanford University’s Genome Technology Center, [8] investigating low-cost DNA sequencing technologies as part of the Human Genome Project. [11] 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). [12] [13]

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] [8] Eltoukhy was president and CEO of the new company until 2008, when Avantome was acquired by Illumina. [3] [14] 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. [8] 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". [3] [15] 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. [14] [16]

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 [17] and a big data approach. [18] [19] 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. [18] [19] [20]

Under Eltoukhy’s direction as CEO, Guardant Health raised over one billion dollars (US) in financing, [21] [22] 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. [17] [20] [23] [24] Named as a World Economic Forum Technology Pioneer [2] [23] and to Fierce Biotech's Fierce 15 list [25] . In 2014 the company launched Guardant360, the first commercially available comprehensive liquid biopsy for cancer. [4] [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. [2] [29] [30] By 2016, the test was in use by oncologists to guide personalized treatment plans for late-stage cancer patients, [20] [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]

Eltoukhy was named to Time Magazine’s inaugural 50 Most Influential People in Healthcare (2018) [42] [43] and Fortune’s 40 under 40 (2017). [44] [45]

Representative publications

Journal articles

Patents

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. Carson filed for divorce on September 18, 2020, in the San Mateo County Superior Courts. The case, presided over by multiple judges, including Sharon K. Cho, Don R. Franchi, and Susan Greenberg, remains active with pending matters as of the latest update in October 2024. The dissolution proceedings address matters involving minor children, as noted in the docket entries. Both Carson and Helmy Eltoukhy are represented by their respective attorneys, who continue to navigate the complexities of this family court case as they work towards finalizing the separation. [55]

Recognition

Eltoukhy was named to Time Magazine’s inaugural 50 Most Influential People in Healthcare in 2018, Fortune’s 40 under 40 in 2017, [44] [45] and the San Francisco Business Times 40 under 40 in 2019. [56] He has served as an invited speaker or panelist at the World Economic Forum , [57] Fortune Brainstorm Health 2017, [58] The Business of Personalized Medicine Summit 2018, [59] [60] HLTH (healthcare innovation) 2018, [61] and the World Medical Innovation Forum 2016. [62]

Related Research Articles

<span class="mw-page-title-main">Biopsy</span> Medical test involving extraction of sample cells or tissues for examination

A biopsy is a medical test commonly performed by a surgeon, an interventional radiologist, or an interventional cardiologist. The process involves the extraction of sample cells or tissues for examination to determine the presence or extent of a disease. The tissue is then fixed, dehydrated, embedded, sectioned, stained and mounted before it is generally examined under a microscope by a pathologist; it may also be analyzed chemically. When an entire lump or suspicious area is removed, the procedure is called an excisional biopsy. An incisional biopsy or core biopsy samples a portion of the abnormal tissue without attempting to remove the entire lesion or tumor. When a sample of tissue or fluid is removed with a needle in such a way that cells are removed without preserving the histological architecture of the tissue cells, the procedure is called a needle aspiration biopsy. Biopsies are most commonly performed for insight into possible cancerous or inflammatory conditions.

Noninvasive genotyping is a modern technique for obtaining DNA for genotyping that is characterized by the indirect sampling of specimen, not requiring harm to, handling of, or even the presence of the organism of interest. Beginning in the early 1990s, with the advent of PCR, researchers have been able to obtain high-quality DNA samples from small quantities of hair, feathers, scales, or excrement. These noninvasive samples are an improvement over older allozyme and DNA sampling techniques that often required larger samples of tissue or the destruction of the studied organism. Noninvasive genotyping is widely utilized in conservation efforts, where capture and sampling may be difficult or disruptive to behavior. Additionally, in medicine, this technique is being applied in humans for the diagnosis of genetic disease and early detection of tumors. In this context, invasivity takes on a separate definition where noninvasive sampling also includes simple blood samples.

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Digital polymerase chain reaction is a biotechnological refinement of conventional polymerase chain reaction methods that can be used to directly quantify and clonally amplify nucleic acids strands including DNA, cDNA, or RNA. The key difference between dPCR and qPCR lies in the method of measuring nucleic acids amounts, with the former being a more precise method than PCR, though also more prone to error in the hands of inexperienced users. PCR carries out one reaction per single sample. dPCR also carries out a single reaction within a sample, however the sample is separated into a large number of partitions and the reaction is carried out in each partition individually. This separation allows a more reliable collection and sensitive measurement of nucleic acid amounts. The method has been demonstrated as useful for studying variations in gene sequences—such as copy number variants and point mutations.

<span class="mw-page-title-main">Mostafa Ronaghi</span> Iranian molecular biologist

Mostafa Ronaghi is an Iranian molecular biologist, specializing in DNA sequencing methodology. He earned his Ph.D. from the Royal Institute of Technology in Sweden in 1998.

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<span class="mw-page-title-main">Circulating tumor DNA</span> Tumor-derived fragmented DNA in the bloodstream

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Circulating free DNA (cfDNA) (also known as cell-free DNA) are degraded DNA fragments released to body fluids such as blood plasma, urine, cerebrospinal fluid, etc. Typical sizes of cfDNA fragments reflect chromatosome particles (~165bp), as well as multiples of nucleosomes, which protect DNA from digestion by apoptotic nucleases. The term cfDNA can be used to describe various forms of DNA freely circulating in body fluids, including circulating tumor DNA (ctDNA), cell-free mitochondrial DNA (ccf mtDNA), cell-free fetal DNA (cffDNA) and donor-derived cell-free DNA (dd-cfDNA). Elevated levels of cfDNA are observed in cancer, especially in advanced disease. There is evidence that cfDNA becomes increasingly frequent in circulation with the onset of age. cfDNA has been shown to be a useful biomarker for a multitude of ailments other than cancer and fetal medicine. This includes but is not limited to trauma, sepsis, aseptic inflammation, myocardial infarction, stroke, transplantation, diabetes, and sickle cell disease. cfDNA is mostly a double-stranded extracellular molecule of DNA, consisting of small fragments (50 to 200 bp) and larger fragments (21 kb) and has been recognized as an accurate marker for the diagnosis of prostate cancer and breast cancer.

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