Mary has been a pioneer in both the science and clinical application of pharmacogenomics. Her research has resulted in seminal laboratory discoveries that unraveled the mechanisms of leukemogenesis and drug resistance; the indentification of novel therapeutic targets, and the integration of biologic, genomic, and pharmacologic discoveries into comprehensive clinical protocols, leading to a markedly improved cure rate for children with acute lymphoblastic leukemia. Read her full bio.

Interview with Honoree Mary Relling, PMWC Duke 2018 Luminary Honoree

Q: Why is preemptive pharmacogenetics testing important in the context of personalized medicine?

A: We estimated that pharmacogenetic test results can impact the use of nearly 100 drugs, accounting for up to 18% of current prescriptions. Therefore, having pharmacogenetic test results already “in hand” at the time of prescribing will be more convenient for patients and physicians compared to performing as needed, one gene-at-a-time testing, which will be slower and more expensive. Pharmacogenetic test information can be treated as any other patient characteristics (weight, age, past medical history, liver function, renal function) that can inform prescribing, so it would be optimally available preemptively. Because genetic make-up doesn’t change as the patient ages, such testing could be performed early and possibly just once in a patient’s lifetime.

Q: How large an impact could it have on patients?

A: Almost all patients have a high risk genotype for at least one pharmacogene. For those patients with a high risk genotype who are prescribed a high-risk drug, the impact is large, in that they are likely to have fewer adverse effects and a higher chance of responding to the affected medications.

Q: You have recently led the establishment and publication of guidelines for 35 different drugs to encourage the implementation of pharmacogenetics in the clinic. How widespread is genetic testing for personalizing prescriptions currently?

A: Genetic testing for personalizing prescriptions is still very rare. One estimate is that less than 1.5% of prescriptions for high-risk drugs were accompanied by genetic testing at a large US health system. At St. Jude, we have been doing it for our patients since 2011.

Q: What else needs to be done to make its uptake in the clinic more robust?

A: We need to continue to update and generate gene/drug pair guidelines within CPIC (the Clinical Pharmacogenetics Implementation Consortium), and continue to work with external groups to educate clinicians and disseminate guidelines. We need health care records that support using genetic test results across all health care settings (inpatient, outpatient, clinics) and cross state lines. Having a comprehensive rather than siloed approach to health care, along with incentives to prevent health care problems rather than just treat them, would also be helpful.

Interview with Daniel Chen from IGM Biosciences

Q: Checkpoint inhibitors, particularly with PD-L1/PD-1 targeting agents, have benefited a broad range of patients with cancer. How will we improve on this?

A: It’s true that PD-L1/PD-1 inhibitors have led to durable responses in a subset of patients, and survival benefit in many of the patients treated- either as monotherapy or combination.

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Call from PMWC 2019 Silicon Valley Program Committee – We Must Accelerate and Deliver on the Promise of Precision Medicine

Precision medicine advancements are real as demonstrated by the high volume of molecular, “precise” drugs on the market, which are based on extensive molecular and translational understanding of the specific drug targets.

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#AI Play in Patient Diagnosis? How Can We Prepare the Next Generation to Make Sense of Enormous Amounts of Health-related Data?

What role should artificial intelligence play in patient diagnosis? How can we best prepare the next generation to make sense of enormous amounts of health-related data? These were just a few of the questions explored at the 15th Precision Medicine World Conference held at Duke University September 24-25, 2018.

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Interview with Daniella Beller, Manager, Maccabi Research Institute Biobank

Q: What makes the Maccabi Research Institute biobank unique?

A: To explain the uniqueness of the Maccabi Biobank (named “Tipa” in Hebrew which means “drop” or “just a little”), first you must know a little about Maccabi.

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Why We Need Public-Private Partnerships (PPP) To Foster Drug Discovery

Investments in pharma R&D has substantially increased over the last decades. Yet there appears to be no clear correlation to the number of newly approved drugs. This fact is accompanied by ever-increasing healthcare costs, fueled by an aging population and the parallel rise in the chronic disease burden.

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Precision Medicine: A Decade of Improving the Standard of Care

In January, PMWC will host its 2019 Silicon Valley event, the largest Precision Medicine conference in the world with over 2,500 attendees gathering at the Santa Clara Convention Center. We are humbled and honored to have reached this stage of growth and are looking forward to continuing our work with key stakeholders and decision makers across the industry to ever strengthen this forum for exchange of critical and timely topics, to move the field of precision medicine forward and to improve the Standard of Care.

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Interview with David Hong from Karius

Q: What need is Karius addressing?

A: Physicians often have difficulty pinpointing the exact pathogen that is causing disease. Conventional diagnostics like blood cultures or PCR can have poor sensitivity due to pretreatment with antibiotics, the breadth of potential pathogens present, and the requirement for invasive procedures to access deep-seated infections.

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Interview with Charles Jaffe, MD, PhD from HL7

Q: What need is HL7 addressing?

A: For more than three decades, HL7 has provided the platform to enable global health data interoperability. This is more important than ever, as the cost of healthcare has increased exponentially, and the complexity of clinical evidence has grown to an almost unmanageable state.

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Interview with Eden Haverfield from Invitae

Q: What need is Invitae addressing?

A: Our mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. Invitae is uniquely positioned to answer some of life’s most serious and complex questions with the highest quality genetics and at an affordable price.

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Call by Ralph Snyderman (Duke U.) for Big Changes to Get to the Next Level of Precision Medicine

Beyond next-generation gene sequencing and developing diagnostic tools and targeted therapies, theoverall approach to clinical care has to be re-envisioned to fulfill the promise of precision medicine. Care must move from sporadic treatment of episodic disease (a reactive mode) to predicting disease and then acting to prevent and mitigate it (a proactive mode).

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Interview with William Hearl From Immunomic Therapeutics, Inc.

Q: What need is Immunomic Therapeutics, Inc. addressing?

A: Immunomic Therapeutics’ nucleic acid vaccines have the potential to utilize the body’s natural biochemistry to develop a broad immune response, including antibody production, cytokine release and critical immunological memory.

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Interview with Ralph Snyderman from Duke University

Q: What are some of the critical contributions that academic institutions and medical centers are making to implement and accelerate precision medicine?

A: Over the past decade, the field of precision medicine has created technologies enabling far more personalized and effective health care delivery. Many of the most dramatic advances have come in the field of oncology but targeting care to the needs of the individual is rapidly achieving broader applications.

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Interview with Catherine Reinis Lucey from UCSF

Q: What research are you or your lab focusing on and why, and what problem(s) are you trying to solve?

A: My work involves designing, implementing and studying innovations in medical education that allow our medical schools to fulfill our social contract to improve the health of our communities and reduce the suffering of our patients.

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Interview with Gunnar Carlsson from Ayasdi

Q: What need is Ayasdi addressing?

A: Ayasdi is pioneering the application of artificial intelligence to value-based care by targeting two of the most complex problems in healthcare: population risk stratification and clinical variation management.

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Interview with Nikole Kimes from Siolta Therapeutics

Q: What need is Siolta Therapeutics addressing?

A: Chronic diseases, including inflammatory diseases such as asthma, now represent the leading cause of mortality and morbidity worldwide.

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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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