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.

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.

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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.

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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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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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