Nebula Genomics’ Goal Is To Make The Value of Genome Sequencing a Reality

This month’s “Company Spotlight” provides a closer look at Nebula Genomics, a human genome sequencing and health big data company on a mission to usher in the era of genomic sequencing by building a large and trusted genomic and health data marketplace for consumers, researchers and the medical community.

Kamal Obbad, CEO and cofounder of Nebula Genomics discussed Nebula Genomics’ marketplace, the need their platform is addressing, and where the future of genomics data sharing and access will lead to.

Nebula Genomics is using blockchain to ensure that consumers maintain control of their data and are compensated for its use, so that the Nebula marketplace will aggregate a critical mass of rich genetic information that researchers can analyze in order to accelerate drug development, streamline clinical trials, and usher in the era of truly personalized medicine. The eight-person company is headquartered in San Francisco, CA, and was founded in 2017 by Harvard Genomics pioneer George Church, along with Harvard researchers Dennis Grishin and Kamal Obbad. Nebula Genomics has recently secured $4.3M in funding from leading venture capital firms including Khosla Ventures, Mayfield and Arch Ventures. The funds will support the company’s mission to usher in the era of personal genome sequencing by creating a trusted, secure, and decentralized marketplace for genomic data. Nebula has also forged a partnership with Veritas Genetics, the leading whole genome sequencing and interpretation company, that will connect the Nebula marketplace to Veritas’ Arvados open-source software platform.

The following summarizes questions and answers from my dialogue with Kamal Obbad.

EB: Tell us more about Nebula Genomics – What scientific and business needs are you trying to address and what products/services do you offer? Blockchain is a critical component of Nebula Genomics – can you explain exactly how you apply this technology to your services?

Kamal Obbad: One of the main issues researchers and the pharma industry are facing today is access to large scale genomics data. The data as it exists today is very fragmented. It is generated in many different labs, by both nonprofit and for-profit Continue reading

Now Available: Individual Clinical NGS Process Report Chapters

We are currently offering the individual chapters and the full report at a 10% discount with promo code 10OFFCLINNGSNOW.

The recently released Clinical NGS Process Reportreleased January 12, 2018 – details the observations and learnings across the complex, multi-step informatics aspects following clinical NGS sample preparation and sequencing, and which includes data analysis, knowledge extraction, and clinical reporting of actionable findings.

You spoke – we listened: To make this report more accessible to individuals that only have an interest in a section we are now providing access to individual chapters. The following chapters are now available for separate purchase:

  1. Clinical End-User Feedback
    1. Conducted a series of end-user interviews to understand clinical needs, testing lab preferences, and challenges when receiving clinical variant data and communicating findings to the physician and the patient.
  2. Clinical NGS Market Trends
    1. NGS adoption challenges.
    2. Innovations and technology trends impacting clinical NGS applications.
    3. Mergers and acquisitions impacting clinical NGS.
  3. Ten Years of NGS Patents
    1. Studied the last ten years of NGS assignees across all NGS patent families, number of patents of leading commercial companies, and clinical-grade genetic/diagnostic testing providers.
    2. Top patent assignees across all NGS patent families.
    3. Contributed by our partner company Pramoedya Biointelligence.
  4. Clinical NGS Projects/Initiatives
    1. Detailed review of 38 global human genome-based initiatives.
  5. The Clinical NGS Data Analysis & Interpretation Ecosystem
    1. Evaluated 26 key commercial software and platform providers that offer a clinical NGS analysis or interpretation solution, to understand their product focus and offered capabilities, their strategy to address end-user needs, and more.
  6. Company/Product Profiles
    1. Reviewed 26 key companies with comprehensive solutions across the entire Clinical NGS Workflow, including genetic testing/diagnostics service providers their product focus, offered capabilities, and their strategy to address end-user needs, and more.

Continue reading

Bio-IT World Conference 2018 – Data Science Has Replaced Bioinformatics

This year’s conference kicked off with an interesting Data Science panel that included Tanya Cashorali (TCB Analytics), Jerald Schindler (Alkermes), John Reynders (Alexion Pharmaceuticals), and Lihua Yu (H3 Biomedicine). Without a doubt, data science is important and involves much more than big data, including the entire workflow of data creation, to insight generation, and decision-making. One key message that came across is that not all data is big data, and that we need improvements in data collection and infrastructure support for data analysis and management. Other key take-home messages: breaking down data silos, educating about responsibility, being responsible to not act independently on data, creating an environment that motivates everybody within a team to share, not rewarding bad data behavior, and being insensitive to data sharing to get more out in return. The big issue here is the culture. If the culture rewards Continue reading

ACMG 2018 – “There is Still So Much We Have to Learn”

This year’s ACMG conference in Charlotte, North Carolina, included a very well received first installment of TED-style talks which reflected on the evolution and impact of healthcare. All three talks delivered by Kaylene Ready (Director of Inherited Cancer and a Genetics Counselor, Counsyl), Christian Schaaf (Professor Clinical Genomics, University of Cologne), and Wendy Chung (Associate Professor of Pediatrics, Columbia University Irving Medical Center) were inspirational, and were considered a great addition to ACMG 2018. Takeaways and key messages included: “treat every patient like patient No. 1, always keeping them at the center of the work, and us working as mediators rather than as a barrier”. Image credit: @DeniseCalvert13

Some statistical numbers were eye-opening and challenging as it comes as no surprise that the community currently lacks genetic counselors (GCs), with fewer than 4,000 GCs and 2,000s medical geneticists in the US which translates to one geneticist per ~60,000 people. With new genetic tests generated every day, GCs need to take on the role of mediators. New operational solutions were discussed to address this shortcoming, and as such Kaylene Ready proposed the exploration of chatbots as alternatives to GC service delivery. While certainly an interesting suggestion, we will have to see whether the field with its customers (i.e. patients) is ready to discuss challenging genetics findings with a computer. As a result, it was suggested to decouple Continue reading

Just Released – Our New Clinical NGS Process Report

Palo Alto, CA, January 12, 2018 – enlightenbio LLC, today announced the publication of its Clinical NGS Process Report. This new report details the observations and learnings across the complex, multi-step informatics aspects following clinical NGS sample preparation and sequencing, and which includes data analysis, knowledge extraction, and clinical reporting of actionable findings. Market trends, including listing of major initiatives, merger and acquisitions, and a summary of patents are detailed within this report, while also highlighted are clinical customer/end-users’ unmet interpretation and knowledge extraction needs and challenges, and genetic testing lab preferences. Finally, an extensive comparison of solution providers in the SaaS and PaaS sector for the analysis and interpretation of clinical NGS data is included. The report is unique, in that it is not a predictive market research report, but rather builds on data gathered from many end-user interviews combined with an extensive analysis of the clinical NGS sector.

While this report does not intend to provide direct recommendations on commercial offerings, the deep-dive analysis is an insightful review to help clinicians, researchers, commercial entities, and investors choose the best partner for success.

For a limited time only, apply Promo Code 10OFFCLINICALNGS and get 10% off when purchasing the report – valid until February 14, 2018.

Download Table of Contents to learn more about the report specifics Continue reading

AHSG 2017 Roundup – A Shout Out to the Women in Science

This year’s ASHG conference in Orlando was kicked off with an inspiring plenary talk by the ASHG President Dr. Nancy Cox, celebrating diversity, inviting refugees to join the human genetics research mission, and longing for the day when contributions by female scientists will be as valued and as acknowledged as those of men. She concluded with highlighting contributions of women to genetics and science thus far, and by sharing her desire that the future will have a more positive outlook in this regard.

This powerful opening talk was followed by a presentation by Bill Gates and a conversation between Bill Gates and Dr. Francis Collins on global health and genomics. Gates highlighted different projects the Bill & Melinda Gates Foundation had been Continue reading

Can 2017 top 2016?

In the life sciences, 2016 brought us many significant developments, and thank goodness, it’s mostly exciting and great to talk about those in length. I am talking here about technological advancements, the many new applications next-generation sequencing is seeing, genetics moving into the clinic, precision medicine finding its mark in oncology and beyond, immunotherapy establishing itself as the leading weapon to attack cancer, and more.

The significance of these developments is further manifested with clinical omics taking shape, hospitals adopting new applications, and testing and treatments that are based on next-generation sequencing, omics data, and more. The results speak a clear language: improved diagnostic tests, and more precise therapeutics.

Here a few highlights – not an all-inclusive summary – of what made 2016 so exciting.

2016

Next-generation sequencing matures

In 2016, we’ve reached a stage where the limitations of next-generation sequencing is not at the level of sequence data generation anymore, rather the limitations are associated Continue reading

The Need to Address the Ensuing Data Explosion is Imminent

Clearly, the DNA sequencing technology has matured and is continuously being optimized for performance while becoming increasingly affordable, thus opening an era of reliable and foreseeable quality data growth demanding high computational resources and data storage. With the rise of varied applications, be it in cancer research, infectious diseases, and other therapy areas, and with the launch of large initiatives (e.g. The Precision Medicine Initiative (PMI)), the need to address the ensuing data explosion is imminent.

Oncology is the dominant sector that currently benefits from next-generation sequencing followed by applications in inherited and rare disease understanding, infectious disease, the microbiome, and others. It is expected that soon, agriculture will also benefit from the technological developments that currently help propel both biomedical research and the clinical sector. Continue reading

Just Released – Our New NGS Data Analysis & Interpretation Ecosystem Analysis Report

Palo Alto, CA, August 22, 2016 – enlightenbio LLC, today announced the publication of its NGS Data Analysis & Interpretation Ecosystem Analysis Report. This new report details an extensive ecosystem analysis of 25 commercial companies in the NGS data analysis and interpretation space, market trends, unmet needs and challenges. The report is unique, in that it is not a predictive market research report, but rather builds on data gathered from many end-user interviews combined with an extensive ecosystem analysis.

ImageReportNGSAnalysisEco

This comparative ecosystem analysis of key commercial data analysis and interpretation tool providers reveals a range of capabilities that uniquely address both secondary and tertiary sequence data analysis needs. At first glance, the value propositions and communication of capabilities may seem overlapping or similar. However, a deeper analysis clearly uncovers substantial differences in the product characteristics related to analysis and interpretation, data management, data sharing and collaboration, reporting of findings, compliance and security mechanisms, and type of content made available for meaningful knowledge extraction.

While this report does not intend to provide direct recommendations to end-users for Continue reading

The Biologists and Clinicians Still Require Hand-Holding When it Comes to Sequence Data Analysis and Interpretation

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Bioinformaticians are a bottleneck and at high demand. They are hard to find, hire, and retain, while typically being an expensive investment. This realization is not new, but has escalated with the sequence data explosion and now puts a huge challenge on commercial tool providers to build optimal analysis and interpretation solutions that will be embraced by biologists and clinicians, i.e. the non-computational scientists. Almost all commercial tool providers state that they offer a solution that is easy to use and requires minimal upfront training. However, reality shows that this is not generally holding true, and biologists/clinicians are still overwhelmed with most offerings in the field. If a solution is too “simplified,” it can’t provide the capabilities required to do a high-quality analysis on complex data. On the flip side, if the solution is too complex, it cannot be deployed and effectively used without training, which is what the field is experiencing. Furthermore, Continue reading