Helmy Eltoukhy
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Helmy Eltoukhy is an American
scientist A scientist is a person who conducts Scientific method, scientific research to advance knowledge in an Branches of science, area of the natural sciences. In classical antiquity, there was no real ancient analog of a modern scientist. Instead, ...
,
entrepreneur Entrepreneurship is the creation or extraction of economic value. With this definition, entrepreneurship is viewed as change, generally entailing risk beyond what is normally encountered in starting a business, which may include other values th ...
, and
investor An investor is a person who allocates financial capital with the expectation of a future Return on capital, return (profit) or to gain an advantage (interest). Through this allocated capital most of the time the investor purchases some specie ...
best known for his contributions to
genomics Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dim ...
, semiconductor DNA sequencing, and
personalized medicine Personalized medicine, also referred to as precision medicine, is a medical model that separates people into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on the ...
. The co-founder of
startups A startup or start-up is a company or project undertaken by an Entrepreneurship, entrepreneur to seek, develop, and validate a scalable business model. While entrepreneurship refers to all new businesses, including self-employment and businesses t ...
Avantome and Guardant Health, Eltoukhy was named to
Time Magazine ''Time'' (stylized in all caps) is an American news magazine based in New York City. For nearly a century, it was published weekly, but starting in March 2020 it transitioned to every other week. It was first published in New York City on Mar ...
’s inaugural ''50 Most Influential People in Healthcare'' (2018) and
Fortune Fortune may refer to: General * Fortuna or Fortune, the Roman goddess of luck * Luck * Wealth * Fortune, a prediction made in fortune-telling * Fortune, in a fortune cookie Arts and entertainment Film and television * ''The Fortune'' (1931 film) ...
’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 A liquid biopsy, also known as fluid biopsy or fluid phase biopsy, is the sampling and analysis of non-solid biological tissue, primarily blood. Like traditional biopsy, this type of technique is mainly used as a diagnostic and monitoring tool for ...
approaches for
cancer Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body. These contrast with benign tumors, which do not spread. Possible signs and symptoms include a lump, abnormal b ...
diagnosis, monitoring, personalized medicine treatment, and
research Research is "creativity, creative and systematic work undertaken to increase the stock of knowledge". It involves the collection, organization and analysis of evidence to increase understanding of a topic, characterized by a particular att ...
.


Education

Eltoukhy attended
Bellarmine College Preparatory Bellarmine College Preparatory is an all-male, Jesuit, private secondary school located in San Jose, California. Founded in 1851, it is the oldest secondary school in California and the second-oldest west of the Mississippi River. In 2020, Niche ...
, studying college level math during his freshman year, and graduating in 1997. Subsequently, Eltoukhy studied
electrical engineering Electrical engineering is an engineering discipline concerned with the study, design, and application of equipment, devices, and systems which use electricity, electronics, and electromagnetism. It emerged as an identifiable occupation in the l ...
at
Stanford University Stanford University, officially Leland Stanford Junior University, is a private research university in Stanford, California. The campus occupies , among the largest in the United States, and enrolls over 17,000 students. Stanford is consider ...
, completing an accelerated Bachelor of Science (BS) in two and a half years, followed by Master of Science (MS) and Doctorate (PhD) degrees. Eltoukhy’s doctoral
thesis A thesis ( : theses), or dissertation (abbreviated diss.), is a document submitted in support of candidature for an academic degree or professional qualification presenting the author's research and findings.International Standard ISO 7144: ...
, “An integrated system for ''de novo'' DNA sequencing”
research Research is "creativity, creative and systematic work undertaken to increase the stock of knowledge". It involves the collection, organization and analysis of evidence to increase understanding of a topic, characterized by a particular att ...
was completed in the laboratory of
Abbas El Gamal Abbas El Gamal (born May 30, 1950) is an Egyptian-American electrical engineer, educator and entrepreneur. He is best known for his contributions to network information theory, field-programmable gate arrays (FPGAs), and CMOS imaging sensors a ...
, for a project that combined
genomics Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dim ...
and sensor engineering. Eltoukhy discovered that low cost CMOS
image sensors An image sensor or imager is a sensor that detects and conveys information used to make an image. It does so by converting the variable attenuation of light waves (as they pass through or reflect off objects) into signals, small bursts of curr ...
coupled to light-emitting DNA sequencing reactions could form the basis for building a less expensive, portable DNA sequencer.


Career


Genome Technology Center

After graduation, Eltoukhy completed a
post-doctoral fellowship A postdoctoral fellow, postdoctoral researcher, or simply postdoc, is a person professionally conducting research after the completion of their doctoral studies (typically a PhD). The ultimate goal of a postdoctoral research position is to p ...
at Stanford University’s Genome Technology Center, investigating low-cost DNA sequencing technologies as part of the
Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...
. Eltoukhy’s research focused on developing new
assays An assay is an investigative (analytic) procedure in laboratory medicine, mining, pharmacology, environmental biology and molecular biology for qualitatively assessing or quantitatively measuring the presence, amount, or functional activity of a ...
and detection methods, with an emphasis on semiconductor-based approaches for
DNA sequencing DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine. Th ...
. That research was funded, in part, by one of the first
National Human Genome Research Institute The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland. NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transi ...
grants awarded for
massive parallel sequencing Massive parallel sequencing or massively parallel sequencing is any of several high-throughput approaches to DNA sequencing using the concept of massively parallel processing; it is also called next-generation sequencing (NGS) or second-generation s ...
(also known as Next Generation Sequencing or NGS).


Avantome and Illumina

In 2007, Eltoukhy and
Mostafa Ronaghi Mostafa Ronaghi ( fa, مصطفی رونقی; born 1968) 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. , he is the Chief Technology Off ...
co-founded the biotechnology
startup company A startup or start-up is a company or project undertaken by an entrepreneur to seek, develop, and validate a scalable business model. While entrepreneurship refers to all new businesses, including self-employment and businesses that never intend t ...
Avantome, to accelerate the commercialization of semiconductor sequencing technologies and affordable high-throughput DNA sequencing. Eltoukhy was president and CEO of the new company until 2008, when Avantome was acquired by Illumina. 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. At Illumina, Avantome’s
CMOS Complementary metal–oxide–semiconductor (CMOS, pronounced "sea-moss", ) is a type of metal–oxide–semiconductor field-effect transistor (MOSFET) fabrication process that uses complementary and symmetrical pairs of p-type and n-type MOSFE ...
/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". 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 to "forge a new frontier" in cancer detection and treatment using
artificial intelligence Artificial intelligence (AI) is intelligence—perceiving, synthesizing, and inferring information—demonstrated by machines, as opposed to intelligence displayed by animals and humans. Example tasks in which this is done include speech re ...
and a
big data Though used sometimes loosely partly because of a lack of formal definition, the interpretation that seems to best describe Big data is the one associated with large body of information that we could not comprehend when used only in smaller am ...
approach. They developed new methods to detect and monitor the low levels of circulating tumor DNA (
ctDNA Circulating tumor DNA (ctDNA) is tumor-derived fragmented DNA in the bloodstream that is not associated with cells. ctDNA should not be confused with cell-free DNA (cfDNA), a broader term which describes DNA that is freely circulating in the blood ...
) fragments released into the bloodstream of people who have cancer, enabling cancer detection and monitoring using
minimally-invasive Minimally invasive procedures (also known as minimally invasive surgeries) encompass surgical techniques that limit the size of incisions needed, thereby reducing wound healing time, associated pain, and risk of infection. Surgery by definition ...
blood tests (
liquid biopsies A liquid biopsy, also known as fluid biopsy or fluid phase biopsy, is the sampling and analysis of non-solid biological tissue, primarily blood. Like traditional biopsy, this type of technique is mainly used as a diagnostic and monitoring tool for ...
) which are lower cost and lower risk compared to traditional
tissue biopsies A biopsy is a medical test commonly performed by a surgeon, interventional radiologist, or an interventional cardiologist. The process involves extraction of sample cells or tissues for examination to determine the presence or extent of a disease ...
. Under Eltoukhy’s direction as CEO, Guardant Health raised over one billion dollars (US) in financing, launched three products, established collaborations with oncology researchers, and gained recognition as a healthcare innovator in
liquid biopsy A liquid biopsy, also known as fluid biopsy or fluid phase biopsy, is the sampling and analysis of non-solid biological tissue, primarily blood. Like traditional biopsy, this type of technique is mainly used as a diagnostic and monitoring tool for ...
approaches used for cancer diagnosis and research. Named as a
World Economic Forum The World Economic Forum (WEF) is an international non-governmental and lobbying organisation based in Cologny, canton of Geneva, Switzerland. It was founded on 24 January 1971 by German engineer and economist Klaus Schwab. The foundation, ...
Technology Pioneer and to Fierce Biotech's Fierce 15 list in 2015, the company launched ''Guardant360'', the first commercially available comprehensive liquid biopsy for cancer in 2014. The test uses a combination of
genomics Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dim ...
and
signal processing Signal processing is an electrical engineering subfield that focuses on analyzing, modifying and synthesizing ''signals'', such as audio signal processing, sound, image processing, images, and scientific measurements. Signal processing techniq ...
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
oncologist Oncology is a branch of medicine that deals with the study, treatment, diagnosis and prevention of cancer. A medical professional who practices oncology is an ''oncologist''. The name's etymological origin is the Greek word ὄγκος (''ó ...
s to guide personalized treatment plans for late-stage cancer patients, and to pair advanced cancer patients with
clinical trial Clinical trials are prospective biomedical or behavioral research studies on human participants designed to answer specific questions about biomedical or behavioral interventions, including new treatments (such as novel vaccines, drugs, dietar ...
opportunities. The
Food and Drug Administration The United States Food and Drug Administration (FDA or US FDA) is a List of United States federal agencies, federal agency of the United States Department of Health and Human Services, Department of Health and Human Services. The FDA is respon ...
granted ''Guardant360'' Expedited Access Pathway status in 2018. ''GuardantOMNI'', an expanded testing panel measuring levels of 500 circulating tumor DNA (ctDNA) genes, was launched in 2017. Released for research use in 2019, ''LUNAR'' is an assay for high sensitivity detection of changes in genomic and
epigenetic In biology, epigenetics is the study of stable phenotypic changes (known as ''marks'') that do not involve alterations in the DNA sequence. The Greek prefix '' epi-'' ( "over, outside of, around") in ''epigenetics'' implies features that are "o ...
signatures of ctDNA in early stage and recurring cancers. In 2017, a
venture capital Venture capital (often abbreviated as VC) is a form of private equity financing that is provided by venture capital firms or funds to startups, early-stage, and emerging companies that have been deemed to have high growth potential or which ha ...
funding round led by
SoftBank is a Japanese multinational conglomerate holding company headquartered in Minato, Tokyo which focuses on investment management. The Group primarily invests in companies operating in technology, energy, and financial sectors. It also runs the ...
raised $360 million, allowing Guardant Health to expand operations globally and continue to focus on accelerating progress towards early cancer detection. Eltoukhy and Talasaz rang the opening bell at the
Nasdaq The Nasdaq Stock Market () (National Association of Securities Dealers Automated Quotations Stock Market) is an American stock exchange based in New York City. It is the most active stock trading venue in the US by volume, and ranked second ...
when Guardant Health went public (IPO) on October 4, 2018. In January 2019, Guardant Health entered a partnership with pharmaceutical company
AstraZeneca AstraZeneca plc () is a British-Swedish multinational pharmaceutical and biotechnology company with its headquarters at the Cambridge Biomedical Campus in Cambridge, England. It has a portfolio of products for major diseases in areas includin ...
to develop
companion diagnostic A medical test is a medical procedure performed to detect, diagnose, or monitor diseases, disease processes, susceptibility, or to determine a course of treatment. Medical tests such as, physical and visual exams, diagnostic imaging, genetic te ...
s. 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 Colorectal cancer (CRC), also known as bowel cancer, colon cancer, or rectal cancer, is the development of cancer from the colon or rectum (parts of the large intestine). Signs and symptoms may include blood in the stool, a change in bowel m ...
in the general population.


Representative Publications


Journal articles

* El Gamal A and Eltoukhy H (2005) CMOS image sensors.
IEEE The Institute of Electrical and Electronics Engineers (IEEE) is a 501(c)(3) professional association for electronic engineering and electrical engineering (and associated disciplines) with its corporate office in New York City and its operation ...
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 The Institute of Electrical and Electronics Engineers (IEEE) is a 501(c)(3) professional association for electronic engineering and electrical engineering (and associated disciplines) with its corporate office in New York City and its operation ...
Journal of Solid-State Circuits 41(3) * 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 * Odegaard J ''et al.'' (2018) Validation of a Plasma-Based Comprehensive Cancer Genotyping Assay Utilizing Orthogonal Tissue- and Plasma-Based Methodologies.
Clinical Cancer Research ''Clinical Cancer Research'' is a peer-reviewed medical journal on oncology, including the cellular and molecular characterization, prevention, diagnosis, and therapy of human cancer, medical and hematological oncology, radiation therapy, pediatric ...
24(15) 3539-3549. * 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 ''Clinical Cancer Research'' is a peer-reviewed medical journal on oncology, including the cellular and molecular characterization, prevention, diagnosis, and therapy of human cancer, medical and hematological oncology, radiation therapy, pediatric ...
24(15), 3528-3538


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).


Recognition

Eltoukhy was named to
Time Magazine ''Time'' (stylized in all caps) is an American news magazine based in New York City. For nearly a century, it was published weekly, but starting in March 2020 it transitioned to every other week. It was first published in New York City on Mar ...
’s inaugural 50 Most Influential People in Healthcare in 2018,
Fortune Fortune may refer to: General * Fortuna or Fortune, the Roman goddess of luck * Luck * Wealth * Fortune, a prediction made in fortune-telling * Fortune, in a fortune cookie Arts and entertainment Film and television * ''The Fortune'' (1931 film) ...
’s 40 under 40 in 2017, and the San Francisco Business Times 40 under 40 in 2019. He has served as an invited speaker or panelist at the ''
World Economic Forum The World Economic Forum (WEF) is an international non-governmental and lobbying organisation based in Cologny, canton of Geneva, Switzerland. It was founded on 24 January 1971 by German engineer and economist Klaus Schwab. The foundation, ...
'', ''Fortune Brainstorm Health 2017'', ''The Business of Personalized Medicine Summit 2018'', ''HLTH'' (healthcare innovation) 2018, and the ''World Medical Innovation Forum 2016''.


References


External links


CNBC Power Lunch (Interview): New blood testing technology may be able to detect cancer
{{DEFAULTSORT:Eltoukhy, Helmy American technology company founders Living people American health care businesspeople 21st-century American biologists Businesspeople in the health care industry Stanford University alumni Stanford University School of Engineering alumni Cancer researchers Year of birth missing (living people)