Dr. Chris Hopkins is helping pioneer the use of humanized animals for personalized medicine applications. With the top 20 highly-annotated genes in Clinvar having over 80% of known variants as either not annotated or assigned as Variant of Uncertain Significance, clinician’s need access to systems for rapid functional characterization of variant pathogenicity. As a solution, Dr. Hopkins, in his role as CEO of Nemametrix, is leading a team using precise gene editing to create human gene variation models. Read his full bio.

Interview with Christopher Hopkins of Nemametrix

Q: There are various new, emerging technologies that bring us closer towards a cure for life-threatening disorders such as cancer, HIV, or Huntington’s disease. Prominent examples include the popular gene editing tool CRISPR or new and improved cell and gene therapies. By when can we expect these new technologies being part of routine clinical care?

A: We should all be working towards integrating these technologies into routine patient care as quickly as possible, because genomic medicine has the capacity to make profound impacts now. These technologies, and many others, can only be truly impactful when they are accessible and useful for any and every patient, as opposed to being siloed in research spaces. At NemaMetrix, where we create model organisms that allow clinicians to study high-impact genetic diseases experienced by real patients, our collaborations with clinicians are an important part of learning how to fully and quickly enter common diagnostic workflows.

Q: What emerging technologies will have a significant impact on patient care in the near and far future?

A: We have come a long way in performing sequence analysis on a patient with a suspected genetic disease. Now this has become a standard of care. However, when a genetic variation is identified as pathogenic in a disease state, clinicians and patients are faced with making difficult care decisions. Unfortunately, in a patient, the pathogenicity of a gene variant often remains uncertain. Any technology that provides good functional data that can give clinicians better insight into disease mechanisms and help them design more individualized treatment options would have a significant impact.

At NemaMetrix, we begin where whole genome sequencing (WGS) ends. We can engineer a patient’s proxy, or avatar, with their exact genetic condition, and then run a series functional assays to profile disease-linked phenotypes within the proxy. The clinician gets a solid body of data from which the mechanism of disease can be elucidated.

Q: In order to maximize the potential of the aforementioned technologies in the clinic, what strategies need to be adapted?

A: The number of non-synonymous variations in the genome is estimated around 80,000,000. Yet the number of variations known to be pathogenic or likely pathogenic is only around 111,000. So there is a huge portion of genetic differences that are in need of functional determination. The only way for any of us (research institutes, companies, health care providers and insurance companies) to make a true impact on patient care is to come to the table ready to share resources, expertise and creativity.

Q: What are some of the major challenges that need to be overcome before we can see widespread applications across the clinic?

A: In order to better understand more variants in disease genes and provide fast and more precise clinical data, there must be better accessibility to animal models and data analysis technologies. Currently, neither is easily accessible.

Q: What solution is your organization providing to address what need in precision medicine?

A: As an example, one arena in massive need of fast analysis is pediatric epilepsy. Sudden Unexplained Death in Epilepsy (SUDEP) could be significantly reduced if proper interventions were found early enough. By inserting a child’s disease-causing variant into a simple model organism, can quickly profile the patient’s precise genetically-linked disease. Using high-throughput formats, we can screen thousands of their avatars to determine which therapeutics are indicated to be a likely successful and personalized course of treatment. Drug optimizing studies are currently being conducted to find best therapeutic fit and reduce the therapeutic odyssey of patients, many of whom are struggling to find benefit as they suffer the side effects of ineffective treatments.

Q: Is there anything you would like to share with the PMWC audience?

A: We’re always interested in collaborating with researchers, clinicians, and industry leaders who are also interested in pursuing discovery within transgenics, model organisms, and genetically linked diseases and personalized genetic medicine. Together, we can create technologies that enable better understanding of genetic variants and eventually quickly test a range of therapeutic options.

Interview with Shannon J. McCall of Duke University

Q: Genomic medicine is entering more hospitals and bringing with it non-invasive technology that can be used to better target and treat diseases. What are some key milestones that contributed to this trend?

A: After several years of the promise of precision medicine and abundant clinical trial work, the recent FDA approval of solid-tumor-agnostic therapies dependent on molecular biomarkers has catapulted genomic/precision medicine into the standard-of-care for late stage cancer.

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Interview with Tao Chen of Paragon Genomics, Inc.

Q: Once sequencing has been validated as a clinical solution via trusted workflows, and coinciding with the technological developments driving costs lower, we can expect accelerated human genome profiling for clinical Dx. How soon, do you think, will we see accelerated growth and what can we expect?

A: For whole genome sequencing to be a reliable clinical tool, it will largely depend on the cost of sequencing the genome and our ability to interpret the data.

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Call for Action: The Time is Now for Patient Data Interoperability

The use of new technologies can provide breakthrough benefits for both patients and providers. However, with increased sharing comes increased risks to the security and privacy of patient data. Currently data is being accumulated across many organizations and initiatives but is often either siloed or simply not accessible. Researchers suggest that patient education tactics can help quell security concerns during patient data sharing.

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Interview with Andrew Magis of Arivale

Q: Once sequencing has been validated as a clinical solution via trusted workflows, and coinciding with the technological developments driving costs lower, we can expect accelerated human genome profiling. How soon, do you think, will we see what kind of accelerated growth?

A: I think the acceleration has already begun. Large sequencing projects such as NHLBI Trans-omics for Precision Medicine (TOPMed) and NIH All of Us are sequencing 150,000 and 1 million individuals, respectively.

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Interview with Emily Leproust of Twist Bioscience

Q: NGS is enhancing patient care through improved diagnostic sensitivity and more precise therapeutic targeting. Prominent examples include cystic fibrosis and cancer. What other clinical areas NGS will most likely to change the standard-of-care in the near future?

A: Preventative medicine – using genetic data to identify traits that have the potential to cause harm in the future.

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Interview with Michael Phelps of UCLA

Q: You invented the PET scanner that changed the lives of millions of patients with cancer, brain and heart diseases. What are the potential benefits to patients of combining PET with radio-ablation technologies?

A: PET provides imaging assays of the biology of disease in many diseases today.

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Interview with Daniela Ushizima of Lawrence Berkeley National Lab

Q: Artificial intelligence (AI) techniques have sent vast waves across healthcare, even fueling an active discussion of whether AI doctors will eventually replace human physicians in the future. Do you believe that human physicians will be replaced by machines in the foreseeable future? What are your thoughts?

A: I really hope that human physicians will not be replaced by machines in the foreseeable future.

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Interview with Amy Compton-Phillips of Providence St. Joseph Health

Q: Genomic medicine is entering more hospitals and bringing with it non-invasive technology that can be used to better target and treat diseases. What are some key milestones that contributed to this trend? What technological advancements are driving this change?

A: Genomic medicine is poised to move quickly from the research realm into integration with healthcare delivery, but there is always a time lapse between technology advances and what we do with those advances.

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Interview with James Taylor of Precision NanoSystems

Q: There are various new, emerging technologies that bring us closer towards a cure for life-threatening disorders such as cancer, HIV, or Huntington’s disease. Prominent examples include the popular gene editing tool CRISPR or new and improved cell and gene therapies. By when can we expect these new technologies being part of routine clinical care?

A: Patients are already receiving treatment using novel gene and cell therapies.

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Interview with Julie Eggington of Center for Genomic Interpretation

Q: Together with Robert Burton you founded the Center for Genomic Interpretation (CGI), a non-profit organization. Can you tell us more about CGI and the mission behind it?

A: CGI’s mission is to drive quality in clinical genetics and genomics. CGI works primarily with laboratories, health insurance payers, clinicians, and patients/consumers.

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Interview with Deven McGraw of Ciitizen

Q: Patient healthcare data aggregation and analysis is seen as both the panacea for tremendous breakthroughs in precision medicine and as one of its biggest challenges. Are both true and how so?

A:Yes, both are true. Achieving breakthroughs in precision medicine will require a lot of data – and yet it is often difficult for researchers to amass all of the data needed to advance precision medicine discoveries.

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Breaking News: CMS Takes Actions to Lower Prescription Drug and Other Healthcare Costs – Seema Verma Speaking @PMWC19

The cost of healthcare has been rising at an annual rate of 7% be it company-sponsored health insurance, public insurance such as Medicare and Medicaid, or private insurance. As such, healthcare was top of mind for many individuals this 2018. In the November midterm election many items related to healthcare such as Medicaid expansion, provider pay and indirect effects on the Affordable Care Act could be found on the ballot.

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Did You Catch All 6 of These Big Genomic Medicine Headlines in Recent Weeks?

Genomic sequencing, the driver of modern genomic medicine has come a long way in a short time, and its potential to continue driving innovations in precision medicine is enormous. PMWC 2019 Silicon Valley Jan. 20-23 in the Santa Clara Convention Center will focus on topics that are in the headlines and on everyone’s minds, in NGS and in precision medicine.

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Interview with Christopher Hopkins of Nemametrix

Q: There are various new, emerging technologies that bring us closer towards a cure for life-threatening disorders such as cancer, HIV, or Huntington’s disease. Prominent examples include the popular gene editing tool CRISPR or new and improved cell and gene therapies. By when can we expect these new technologies being part of routine clinical care?

A: We should all be working towards integrating these technologies into routine patient care as quickly as possible, because genomic medicine has the capacity to make profound impacts now.

Read More

Interview with Kristine Ashcraft of YouScript

Q: There are various new, emerging technologies that bring us closer towards a cure for life-threatening disorders such as cancer, HIV, or Huntington’s disease. Prominent examples include the popular gene editing tool CRISPR or new and improved cell and gene therapies. By when can we expect these new technologies being part of routine clinical care?

A: It’s certainly hard to predict, but our goal is to see precision medicine tools in the hands of most providers in the next five years.

Read More
Johns Hopkins
University Of Michigan

The Precision Medicine World Conference (PMWC), in its 16th installment, will take place in the Santa Clara Convention Center (Silicon Valley) on January 20-23, 2019. The program will traverse innovative technologies, thriving initiatives, and clinical case studies that enable the translation of precision medicine into direct improvements in health care. Conference attendees will have an opportunity to learn first-hand about the latest developments and advancements in precision medicine and cutting-edge new strategies and solutions that are changing how patients are treated.

Agenda highlights:

  • Five tracks will showcase sessions on the latest advancements in precision medicine which include, but are not limited to:
    • AI & Data Science Showcase
    • Clinical & Research Tools Showcase
    • Clinical Dx Showcase
    • Creating Clinical Value with Liquid Biopsy ctDNA, etc.
    • Digital Health/Health and Wellness
    • Digital Phenotyping
    • Diversity in Precision Medicine
    • Drug Development (PPPs)
    • Early Days of Life Sequencing
    • Emerging Technologies in PM
    • Emerging Therapeutic Showcase
    • FDA Efforts to Accelerate PM
    • Gene Editing
    • Genomic Profiling Showcase
    • Immunotherapy Sessions & Showcase
    • Implementation into Health Care Delivery
    • Large Scale Bio-data Resources to Support Drug Development (PPPs)
    • Microbial Profiling Showcase
    • Microbiome
    • Neoantigens
    • Next-Gen. Workforce of PM
    • Non-Clinical Services Showcase
    • Pharmacogenomics
    • Point-of Care Dx Platform
    • Precision Public Health
    • Rare Disease Diagnosis
    • Resilience
    • Robust Clinical Decision Support Tools
    • Wellness and Aging Showcase

Agenda highlights:

    • Five tracks will showcase sessions on the latest advancements in precision medicine which include, but are not limited to:
      • AI & Data Science Showcase
      • Clinical & Research Tools Showcase
      • Clinical Dx Showcase
      • Creating Clinical Value with Liquid Biopsy ctDNA, etc.
      • Digital Health/Health and Wellness
      • Digital Phenotyping
      • Diversity in Precision Medicine
      • Drug Development (PPPs)
      • Early Days of Life Sequencing
      • Emerging Technologies in PM
      • Emerging Therapeutic Showcase
      • FDA Efforts to Accelerate PM
      • Gene Editing / CRISPR
      • Genomic Profiling Showcase
      • Immunotherapy Sessions & Showcase
      • Implementation into Health Care Delivery
      • Large Scale Bio-data Resources to Support Drug Development (PPPs)
      • Microbial Profiling Showcase
      • Microbiome
      • Neoantigens
      • Next-Gen. Workforce of PM
      • Non-Clinical Services Showcase
      • Pharmacogenomics
      • Point-of Care Dx Platform
      • Precision Public Health
      • Rare Disease Diagnosis
      • Resilience
      • Robust Clinical Decision Support Tools
      • Wellness and Aging Showcase
  • Luminary and Pioneer Awards, honoring individuals who contributed, and continue to contribute, to the field of Precision Medicine
  • 2000+ multidisciplinary attendees, from across the entire spectrum of healthcare, representing different types of companies, technologies, and medical centers with leadership roles in precision medicine
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