Diagnostic Genomics: Genomic Search Engines and Genome Interpretation

Dr. Mark Kiel, Founder and Chief Scientific Officer of Genomenon based in United States, participates in Risk Roundup to discuss Diagnostic Genomics: Genomic Search Engines and Genome Interpretation.


How is Human Disease Genomics transforming Medicine?

It is said that this is the best of times for Human Disease Genomics. In the coming years, due to advances in technology, massive genomic data sets from human patients and controls will likely be created and stored. Along with the advanced mechanisms for the creation, storage, analysis, integration and interpretation of a wide variety of genomic data types, Medicine and Healthcare will likely go through fundamental transformation and revolution.

As a result, we will see a continued growth in the number of disease genes identified. In addition, we will also develop a deepening of our understanding of the fundamental genetic architecture and human disease states. So, what will be its impact?

  • What will be the meaning of human disease genomic data?
  • What would be required to understand and evaluate massive genomic data?

It seems that because of the massive increase in genomic data creation and availability, the race to build a search engine for Human DNA is on its way. It is important that we evaluate the strategic impact and complex security risks that emerges with the availability of massive human genomic data and the accessibility that Genomic Search Engines provides.

Genomic Medicine

Genomic Medicine, also known as Personalized Medicine seems to be the future of Medicine. It is important to understand the promise and potential of Genomic Medicine further:

  • What is Genomic Medicine?
  • How will it transform Medicine?
  • What is the current cost of Whole Genome Sequencing?
  • Why is implementation of Genomic Medicine likely be difficult to achieve?
  • What are the benefits of automating medicine?
  • How much will be the computational cost of genome analysis?
  • What are the benefits of using the genome analysis and interpretation platform?

Strategic Need of Genomic Search Engines

Over the years, obtaining and de-coding any individual’s whole genome has become easy, rapid and affordable. As a result, many genome companies across nations are trying to be the de-facto search engine for Personalized Medicine.

As a result, the databases of genetic information are growing by terabytes.

Healthcare professionals are in a desperate need of a way to efficiently sift through the information. They need to understand cause of a disease disorder or even look for clues in how patients might respond to any specific treatment. It is important to evaluate what impact will the growing database of genetic information bring on Healthcare and Medicine across nations.

Across nations, intense efforts are going on to build the DNA search engine. There are some initiatives to build proprietary databases of genetic information, and there are some initiatives to link enough genetic databases so that users can quickly identify variety of mutations. It is important to evaluate what potential; will genomic search engines bring today and in the coming tomorrow?

  • What is the central objective of human genetic research?
  • What were the challenges in understanding human diseases so far?
  • What technological advances has changed or transformed our ability for human disease genomics?
  • Where has the progress been made?
  • What is the current state of Genomics?
  • What are the current challenges with genome interpretation?
  • How will building genomic variant knowledge base benefit the healthcare providers?
  • How will a genomic library with published scientific articles from medical literature benefit the medical community?

Current Challenges

  • What are the existing and emerging challenges facing curators?
  • What are the challenges in diagnosing rare diseases?
  • What is the state of diagnosis of complex diseases?
  • How to deliver biological meaning for the discovered alleles?
  • What advantages genome scale technologies have brought?
  • What are the current challenges facing healthcare providers in Whole Genome Sequencing?

Security Risks

As the effort intensifies to make a functional DNA search engine, the genomic data must be organized so that humans can read and search it effectively. While this is more of a big data problem and comes with inherent big data complexities and risks, it is important to understand and evaluate how secure it is. Furthermore, it is important to evaluate-

  • How to expand the information that can be attached to a genome under exam?
  • Should the library be oriented towards healthcare professionals or consumers directly?
  • Should the market for analyzing and interpreting genomic data be fragmented?


As genome companies are trying to be the search engine for personalized medicine, it is important to evaluate its impact and strategic security risks.

Time is now to talk about Genomic Medicine, Personalized Medicine, Genomic Search Engines and Security Risks!

For more please watch the Risk Roundup Webcast or hear Risk Roundup Podcast

About the Guest

Dr. Mark Kiel MD, PhD, is the Founder and CSO of Genomenon. He practiced as a molecular pathologist at The University of Michigan and has extensive experience in genomic analysis and the clinical application of genomics.

Dr. Kiel completed his medical residency in Clinical Pathology in 2014 and fellowship in Molecular Genetic Pathology in 2015 at the University of Michigan before starting Genomenon. He has an exemplary record of scientific research including publications in Cell, Science and Nature for which he has won numerous international awards. He has extensive experience in genome sequence analysis and has first-hand knowledge of the clinical use of these data. He envisioned the technology underlying the Genomenon suite of software tools.

Dr. Kiel has extensive experience in genome-sequence data analysis and first-hand knowledge of the clinical use of these data. He serves in an advisory position to a number of research investigators and clinical diagnosticians nationwide and devised the technology underlying the Genomenon suite of software tools.

About Genomenon

Genomenon delivers genome interpretation software for diagnosing and treating cancer and inherited diseases.  Genomenon’s software addresses the single, most expensive constraint to adopting Next Generation DNA Sequencing (NGS) technology in clinical applications – genomic interpretation.

The bottleneck in using genomic sequencing for clinical diagnosis is too much data without the tools to quickly and comprehensively interpret the data. The cost to sequence an entire genome is driving towards $100 and delivers over 3 billion data points, while the cost to interpret that data can be well over $10,000. DNA interpretation takes highly trained MDs and PhDs hundreds of hours to manually search and curate the rapidly growing body of medical literature for disease-related genes and mutations to render a patient diagnosis.

Genomenon has eliminated the manual search process and is revolutionizing the way genetic diagnosis and discoveries are made. The company’s Mastermind Genomic Search Engine has indexed millions of genomic articles to provide immediate insight into the scientific literature for patient diagnosis. Mastermind alleviates the clinical NGS bottleneck by reducing the time and cost it takes to interpret a patient’s genome, enabling pathologists and geneticists to rapidly and more accurately render a patient diagnosis from their DNA sequencing data.

About the Host of Risk Roundup
Jayshree Pandya (née Bhatt) is a visionary leader, who is working passionately with imagination, insight and boldness to achieve Global Peace through Risk Management. It is her strong belief that collaboration between and across nations: its government, industries, organizations and academia (NGIOA) will be mutually beneficial to all—for not only in the identification and understanding of critical risks facing one nation, but also for managing the interconnected and interdependent risks facing all nations. She calls on nations to build a shared sense of identity and purpose, for how the NGIOA framework is structured will determine the survival and success of nations in the digital global age. She sees the big picture, thinks strategically and works with the power of intentionality and alignment for a higher purpose—for her eyes are not just on the near at hand but on the future of humanity!
At Risk Group, Jayshree is defining the language of risks and currently developing thought leadership, researching needed practices, tools, framework and systems to manage the “strategic and shared cyber-security, geo-security and space-security risks facing nations today in a digital global age. She believes that the contested commons of cyberspace or space cannot be secured if NGIOA works in silo within and across its geographical boundaries in cyberspace, geospace and space. As security requires an integrated NGIOA approach with a common language, she has launched cyber-security, geo-security and space-security risk research centers that will merge the boundaries of geo-security, cyber-security and space-security.
Previously, she launched and managed “Risk Management Matters”, an online risk journal and one of the first risk publications, publishing “Industry Risk Reports of Biotechnology, Energy, Healthcare, Nanotechnology, and Natural Disasters” over the course of five years. Jayshree’s inaugural book, “The Global Age: NGIOA @ Risk”, was published by Springer in 2012.

About Risk Roundup

Risk Roundup, a global initiative launched by Risk Group, is an integrated cyberspace, geospace, and space (CGS) security risk dialogue for individuals and entities across nations: its government, industries, organizations and academia (NGIOA).

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About Risk Group

Risk Group is a strategic security risk research organization. It focuses broadly on the risks facing individuals and entities across nations: its governments, industries, organizations, and academia (in short referred to as NGIOA). Its approach is broad, encircling cyberspace, geospace and space (in short referred to as CGS). It firmly believes that collaboration within, between and across NGIOA will be mutually beneficial to all stakeholders across nations—for not only in the identification and understanding of critical CGS security risks facing one nation, but all nations.

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