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 Ken Bloom of Ambry Genetics

Q: Tell us more about your organization/company. What patient population are you serving and which services are you specializing in?

A: Ambry Genetics is a recognized leader in high quality complex genetic testing. We seek to find the genomic cause or contributors to rare diseases, abnormal phenotypes and hereditary disorders.

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Interview with Lee Pierce of Sirius Computer Solutions

Q: What is the state of big data and analytics in healthcare, and how to best use the reams of data available?

A: More than ever, Healthcare organizations are achieving measurable value through use of their data and analytics assets. There is more raw material available than ever to create value. This raw material is the data flowing from internal systems and applications and also from devices and systems external to healthcare organizations.

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Interview with Anita Nelsen of PAREXEL

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: Today’s emerging technologies are making the promise of individualized treatment a reality.

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Interview with Ilan Kirsch of Adaptive Biotechnologies

Q: The Nobel Prize in Medicine was awarded recently to James Allison and Tasuku Honjo 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: For decades cancer was viewed as solely a cell-autonomous condition.

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BMS buys Celgene | Lilly buys Loxo Oncology – Does this Signal a Return to Strong Deal-Making Activities in 2019?

Bristol-Myers Squibb’s blockbuster $74B deal to buy Celgene creates an oncology powerhouse amid industrywide excitement about the rapidly evolving science and explosive growth of the sector. The agreement could signal a return to deal-making for the pharmaceutical industry in the $133B global oncology therapeutics market.

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Interview with Gini Deshpande of NuMedii

Q: What need is NuMedii addressing?

A: NuMedii, has been pioneering the use of Big Data, artificial intelligence (AI) and systems biology since 2010 to accelerate the discovery of precision therapies to address high unmet medical needs. Artificial Intelligence approaches are a natural fit to harness Big Data as they provide a framework to ‘train’ computers to recognize patterns and sift through vast amounts of new and existing genomic

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Interview with Minnie Sarwal of UCSF

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: Completion of complete sequence data from the human genome project, and the advances in proteomic, microRNA and epigenetic assays added a layer of pathway biology to the understanding of human diseases.

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Interview with Shidong Jia of Predicine

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: We will see accelerated human genome profiling for clinical Dx in 2019 and the coming years as more biomarker-based cancer drugs are gaining approval.

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Interview with Iya Khalil of GNS Healthcare

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 think that there’s a lot of speculation and uncertainty around AI, but I don’t foresee a time when we won’t need physicians.

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Interview with Ilya Michael Rachman of Immix Biopharma Inc.

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.” Besides CAR T-cell therapy what do you think next generation immunotherapies will look like to successfully combat cancer?

A: The next generation of immunotherapies will build on the insights discovered by immunologists like James Allison and Tasuku Honjo and extend them to modify the body’s response to tumors.

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Join me to Kick off PMWC Silicon Valley in the Santa Clara Convention Center, Focusing on Every Element of Precision Medicine

My team worked in collaboration with Bill Dalton, Kim Blackwell, Atul Butte / India Hook Barnard, Nancy Davidson and Sharon Terry to create a program that touches every component of precision medicine while bringing together all of its key stakeholders. Leading participating institutions including Stanford Health Care, UCSF, Duke Health, Duke University, John Hopkins University, University of Michigan and more will share their learnings and experiences and their successes and challenges, as they make precision medicine the new standard of care for all.

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Interview with Dominic Eisinger of Myriad RBM

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.” Besides CAR T-cell therapy what do you think next generation immunotherapies will look like to successfully combat cancer?

A: Next generation immunotherapies include CAR-Ts, TCRs, cancer vaccines, ADCs, bi-specific antibodies, and checkpoint inhibitors.

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2018 Year in Review Milestones: Stakeholder Partnerships Carving Precision Medicine’s Future

2018 has clearly been a year when significant opportunities intersected with strong partnerships to yield advancements. In particular, the clinical advancements that were realized are a testimony to stakeholders working together to deliver on promises affecting major aspects of precision medicine. 2018 has clearly been a year when significant opportunities intersected with strong partnerships to yield advancements.

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Interview with Lisa Alderson of Genome Medical

Q: Tell us a little bit about Genome Medical. What market need is Genome Medical addressing and how?

A: Genome Medical is a telegenomics company that is bridging the gap between available, genetic expertise and the clinical application of genomics.

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Interview with Nasir Bhanpuri of Virta Health

Q: What need is Virta Health addressing?

A: Virta Health delivers an evidence-based treatment to safely and sustainably reverse type 2 diabetes without the use of medications or surgery. In the U.S. alone, type 2 diabetes and prediabetes affects 115 million people, and the economic burden is well-over $300 billion and growing.

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Johns Hopkins
University Of Michigan

The Precision Medicine World Conference (PMWC), in its 17th installment, will take place in the Santa Clara Convention Center (Silicon Valley) on January 21-24, 2020. 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.

See 2019 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

See 2019 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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