Dr. Hegde is the VP and Chief Scientific Officer, Global Laboratory Services. She joined PerkinElmer on October 1, 2016. The focus of her clinical work is the development and implementation of high-throughput next generation sequencing (NGS) strategies for genomic disorders using sequence capture technologies, robotics, clinical exome and genome sequencing, and oligonucleotide array platforms. Read her full bio.

Interview with Madhuri Hegde, Vice President and Chief Science Officer of PerkinElmer’s Global Laboratory Services

Q: What need is Global Laboratory Services addressing?

A: PerkinElmer Genomics is global (genomics) laboratory service with laboratories in US, India and China, addressing genetic/genomic testing across the globe. Although the prevalence of, and access to, genomic testing has been increasing rapidly in the United States over the past decade, this is not necessarily the case in other parts of the world. PerkinElmer Genomics aims to offer genetic testing in some of these underserved communities in order to increase access. Additionally, our global laboratory service will also increase the scientific communities’ understanding of genetic variation and underpinnings of genomic disease in these understudied populations.

Q: What are the products and/or services Global Laboratory Services offers/develops to address this need? What makes Global Laboratory Services unique?

A: PerkinElmer Genomics offers an unmatched continuum of care for its patients – from newborn screening all the way through whole genome sequencing (WGS), and almost everything in between, paired with biochemical testing.We are the only laboratory in the world that has validated all of our testing (including WGS) on dried blood samples, affording us the ability to offer simple sample collections to patients around the world.

In our flagship laboratory in the United States, we have leveraged the NGS workflow solutions and automation tools offered by PerkinElmer to build a unique genomics laboratory with unmatched efficiency and sustainability. Combined with our optimized testing workflows and our proprietary high-throughput interpretation platform (ODIN),we are able to introduce and offer affordable testing to all patients who can benefit. Furthermore, with strategic investments in laboratories across the world, we plan to create a genomic testing network that will allow us introduce our superior testing services to previously underserved markets.

Q: What is your role at Global Laboratory Services and what excites you about your work?

A: My current role is Vice President and Chief Scientific Officer of PerkinElmer’s Global Laboratory Services. In this role I oversee all genomic testing services at both PerkinElmer Genomics and other genetic laboratories owned and operated by PerkinElmer. Additionally, I play an active role in assessing new assays and technologies for our global laboratory network, as well as participating in setting the PerkinElmer strategic roadmap for the coming years.

I think the thing that makes me the most excited about my role is really the ability to positively influence the genomics landscape by making testing more affordable and accessible to patients. I am also grateful to be in a position that gives me exposure and allows me to bring new and innovative technologies to the market to both further the genomics and overall healthcare landscape.

Q: When thinking about Global Laboratory Services and the domain Global Laboratory Services is working in, what are some of the recent breakthroughs that are propelling the field forward and how will they impact healthcare?

A: There are several things that are currently propelling the field of genomics forward, including the reduction in the cost of sequencing, coupled with the ability to simply sequence more information faster than ever before. Ten years ago we were limited in the amount of sequencing that we could perform due to the inherit limitations of Sanger sequencing. Today, we can we sequence an entire genome at the same price as a panel ten years ago, and potentially with a shorter turn-around-time. This significant improvement in sheer sequencing power is propelling the field forward by leaps and bounds with regards to understanding genetic components of disease.

Another item that is propelling the field forward is the implementation of new technologies to aid in data aggregation and variant interpretation. In fact, our laboratory has recently developed proprietary data analysis software, ODIN (Ordered Data Interpretation Network), that does just that. ODIN allows my team to quickly exchange and view information while interpreting genomic data, and also aggregate the testing data from across our global network of laboratories. We are also looking beyond DNA sequencing into RNA sequencing and metabolomics through some strategic partnerships.

Q: What are the short-term challenges that Global Laboratory Services and its peers are facing?

A: One of the main challenges of running a global network of genomic laboratories is maintaining consistent and constant communication across all of the sites, as well as data integration for interpretation and reporting. Everyone is working extremely hard to deliver superior genomic testing results to all of our patients across the globe, but finding that time to break away that important work is essential to maintain seamless operational workflows. Recently we have appointed a new Global Director of Laboratory Operations to ensure that our communication is continual, and I feel like this will only enhance our already thriving global network of genomic laboratories. Other than that, challenges around translating “ precision medicine / evidence based medicine” to a more granular and grass roots level is what most quality laboratories are trying to achieve, which in turn is driving innovation in genomics.

Interview with Andrew Carroll of Google AI

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 believe that applying AI technologies in healthcare will make physicians more valuable, and will make their careers more enjoyable and sustainable.

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Interview with L. Staton Noel III of Panaceutics

Q: What need is Panaceutics addressing?

A: One of the key barriers to making precision/personalized wellness and healthcare products is the contradictory goal of manufacturing individualized products on a large scale. Meeting demand for personalized products can be expensive and logistically challenging.

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Interview with Joe Zhang of Burning Rock Dx

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: The milestones in my mind include the first FDA clearance of Next Gen Sequencing instrument, MiSeqDx in 2013, this opened a new door for clinical utilization of parallel gene alteration detection in clinical setting.

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Why are Scientists So Upset About The First CRISPR Babies?

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.

Read More

Interview with Kara Davis of Stanford

Q: The Nobel Price in Medicine was awarded recently to James Allison and Tasuku for their work on unleashing the body’s immune system to attack cancer, a breakthrough that has led to an entirely new class of drugs and brought lasting remissions to many patients who had run out of options. The Nobel committee hailed their accomplishments as establishing “an entirely new principle for cancer therapy.” What is your first-hand experience the impact that those new drugs had on patients?

A: These immune checkpoint inhibitors have been an incredible demonstration of the ability of the immune system to control and in some cases.

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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.

Read More

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.

Read More

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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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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