This document discusses the potential for rare diseases and orphan drugs to serve as models for biomarker-driven precision medicine and stratified therapies more broadly. It provides examples of how biomarkers have helped validate targets and predict responses in rare diseases like Muckle-Wells syndrome. Orphan diseases are seen as providing small patient populations, strong advocacy networks, and clinical trial models that could speed development of stratified medicines. However, regulators may be skeptical if stratification is used to avoid traditional clinical trials, and payers have concerns about costs if a stratified condition affects a large number of patients. Overall, lessons from rare diseases around biomarkers, clinical development, and policy/reimbursement could help advance the field of stratified medicine.
Most healthcare systems across Europe are not set up to jointly assess personalised medicines and their companion diagnostics in a holistic way. This can lead to lower reimbursement prices and slower uptake of these novel drugs. There are three main challenges: 1) current systems focus on organs and diseases rather than biological pathways, 2) payers and policymakers are skeptical of claims of increased pricing and unfamiliar evidence, and 3) systems consider drugs and diagnostics separately rather than together. To address this, companies must understand countries' assessment approaches and generate evidence to demonstrate the value of jointly assessing personalized treatments and diagnostics.
2015 06-02 Steering group 'Personalized Medicine: eligible or not'Alain van Gool
Update for the steering group of the project "Personalized Medcine: eligble or not?", aiming to define whether and how to implement pharmacogenetic screening by first line care practitioners.
Personalized Medicine – From Theory to Practice as presented by keynote speaker Ralph Snyderman, MD; Director of the Center for Research on Prospective Health Care, James B. Duke Professor of Medicine, Chancellor Emeritus, Duke University
With recent advances in Healthcare, Personalized medicine has become a buzzword. The customization of health care, based on DNA sequencing, patient's environmental information, can lead to more efficient treatments.
By integrating various sources of data, personalized medicine improves all aspects of healthcare from prevention to monitoring.
Personalized medicine (PM) aims to individualize treatment based on a person's genes, environment, and lifestyle. It involves analyzing a person's genetic, genomic, and clinical information to make predictions about disease susceptibility, progression, and best treatment options. PM is not just about genetics but also considers natural variations in how individuals metabolize and respond to drugs. Through molecular analysis of biomarkers, PM can classify disease subtypes and subgroups that respond differently to therapies. The goals of PM are to enable more informed healthcare decisions, improve outcomes through targeted therapies, reduce side effects, focus on prevention over reaction, allow for earlier intervention, and reduce costs through a more personalized approach.
This document discusses personalized medicine and provides an outline of topics covered. It defines personalized medicine as tailoring medical treatment to an individual's characteristics. Key areas discussed include pharmacogenetics, how genes and genetic variations affect drug responses, and examples of genetic screening and biomarkers used in drug labeling. The document also addresses challenges in implementing personalized medicine and steps needed like educating healthcare professionals in pharmacogenomics.
Most healthcare systems across Europe are not set up to jointly assess personalised medicines and their companion diagnostics in a holistic way. This can lead to lower reimbursement prices and slower uptake of these novel drugs. There are three main challenges: 1) current systems focus on organs and diseases rather than biological pathways, 2) payers and policymakers are skeptical of claims of increased pricing and unfamiliar evidence, and 3) systems consider drugs and diagnostics separately rather than together. To address this, companies must understand countries' assessment approaches and generate evidence to demonstrate the value of jointly assessing personalized treatments and diagnostics.
2015 06-02 Steering group 'Personalized Medicine: eligible or not'Alain van Gool
Update for the steering group of the project "Personalized Medcine: eligble or not?", aiming to define whether and how to implement pharmacogenetic screening by first line care practitioners.
Personalized Medicine – From Theory to Practice as presented by keynote speaker Ralph Snyderman, MD; Director of the Center for Research on Prospective Health Care, James B. Duke Professor of Medicine, Chancellor Emeritus, Duke University
With recent advances in Healthcare, Personalized medicine has become a buzzword. The customization of health care, based on DNA sequencing, patient's environmental information, can lead to more efficient treatments.
By integrating various sources of data, personalized medicine improves all aspects of healthcare from prevention to monitoring.
Personalized medicine (PM) aims to individualize treatment based on a person's genes, environment, and lifestyle. It involves analyzing a person's genetic, genomic, and clinical information to make predictions about disease susceptibility, progression, and best treatment options. PM is not just about genetics but also considers natural variations in how individuals metabolize and respond to drugs. Through molecular analysis of biomarkers, PM can classify disease subtypes and subgroups that respond differently to therapies. The goals of PM are to enable more informed healthcare decisions, improve outcomes through targeted therapies, reduce side effects, focus on prevention over reaction, allow for earlier intervention, and reduce costs through a more personalized approach.
This document discusses personalized medicine and provides an outline of topics covered. It defines personalized medicine as tailoring medical treatment to an individual's characteristics. Key areas discussed include pharmacogenetics, how genes and genetic variations affect drug responses, and examples of genetic screening and biomarkers used in drug labeling. The document also addresses challenges in implementing personalized medicine and steps needed like educating healthcare professionals in pharmacogenomics.
1) The document discusses critical issues in prescribing opioids for adult patients in the emergency department. It provides recommendations on 4 critical questions related to opioid prescribing based on a review of the available medical literature.
2) The first critical question addresses whether prescription drug monitoring programs can help identify patients at high risk for opioid abuse. The recommendation is that PDMPs may help with this.
3) The second critical question discusses whether opioids are more effective than other medications for acute low back pain. The recommendations are to consider non-opioid options first and avoid routine opioid prescribing.
4) The third and fourth critical questions and recommendations address appropriate opioid selection and prescribing considerations on discharge for acute pain patients.
The global precision medicine market was valued at USD 50.99 billion in 2018 and is projected to reach USD 88.25 billion by 2023, growing at a CAGR of 11.60%. The market is segmented by ecosystem players, therapeutics, and technology, with cancer being the largest therapeutic segment. Key drivers of growth include increasing investments in precision medicine R&D, rising prevalence of chronic diseases, and advancements in technologies such as genomics, big data analytics, and companion diagnostics.
Personalized Therapies for OA: Can Biomarkers Get Us There?OARSI
This document discusses the potential for using biomarkers to enable personalized therapies for osteoarthritis (OA). It defines key terms like personalized therapies, biomarkers, phenotypes, and endotypes. The presenter argues that biomarkers could help identify the right treatment for individual OA patients by enabling prognostic and predictive enrichment in clinical trials. However, moving biomarkers from discovery to clinical validation and use involves a long process including assay development, testing biological links and hypotheses, and conducting randomized controlled trials. Several studies are highlighted that have discovered potential new biomarkers and are beginning to test biological links and hypotheses regarding how biomarkers may reflect disease processes and response to treatments.
The maturation of genomic technologies has enabled new
discoveries in disease pathogenesis as well as new approaches to patient care.
In pediatric oncology, patients may now receive individualized genomic analysis to identify molecular aberrations of relevance for diagnosis and/or treatment.
Several recent clinical studies have begun to explore the feasibility and utility of genomics-driven precision medicine.
Prevention of adverse drug events in hospitalsantoshbhskr
Dr. Santosh Kumar Bhaskar discusses prevention of adverse drug events in hospitals. A 55-year-old man with liver and kidney issues was admitted for diarrhea and decreased urine output. His condition initially improved with treatment but then deteriorated, with decreasing urine output and worsening liver tests. The doctor considers whether an infectious cause could be resistant to treatment, the patient's liver decompensated, or the treatment plan needs review. Adverse drug events are common in hospitals and increase costs. Prevention requires both provider-based strategies like reviewing high-risk medications and systems-based approaches like computerized order entry and pharmacist interventions.
Examples of Traditional vs. Precision Therapies
1) James Kennedy, Centre for Addiction and Mental Health
2) Niya Chari, CBCN
3) Michael Duong, Roche
4) Linsay Davis, AveXis
5) Josh Silvertown, Bayer Canada
Personalized medicines aim to tailor medical treatment to an individual patient's characteristics, needs, and preferences. This involves considering factors like a patient's DNA, environmental exposures, stress levels, and diet to identify the treatment that will cure their disease without side effects. Personalized medicines can help physicians choose therapies based on a patient's biological information from pharmacogenomics to improve accuracy, efficacy, and compliance compared to traditional one-size-fits-all approaches. Key goals are minimizing wasted drugs and preventing adverse reactions by predicting dosing and treatment responses.
This document discusses personalized medicine, which aims to provide the right treatment for each individual patient based on their genetic profile. It defines personalized medicine as tailoring medical treatment to each patient's characteristics, needs and preferences. The development of genomic sequencing allows for more precise treatment by understanding how genetic variations impact drug metabolism and response. Pharmacogenomics studies how DNA and RNA variations affect drug effectiveness. Implementing personalized medicine through genetic testing can help reduce disease burden by improving prevention, treatment and healthcare costs while minimizing risks.
A slide series to learn and appreciate the importance and the potential of Personalized/Individualized Genomic Medicine. It briefly goes through the idea of biotechnology and the advancements we have made in biology and technology. A series of applications for genomic medicine is then explored, not failing to mention the challenges we have to overcome as well, for the next medical revolution.
A case for personalized medicine is presented.
Precision Medicine: Opportunities and Challenges for Clinical TrialsMedpace
The momentum and muscle behind "finding the right drug for the right patient at the right dose" has further escalated with President Barack Obama’s announcement of a $215 million dollar Precision Medicine Initiative earlier this year. In this webinar, Dr. Frank Smith will explore advances in precision medicine and how it is affecting clinical research. As a pediatric hematologist/oncologist, he will use his extensive clinical and research background as a backdrop for the discussion.
Topics will include:
The evolution of "personalized medicine" to "precision medicine"
How state-of-the-art molecular biology is creating new diagnostic and prognostic strategies
How these new strategies are helping inform the design of clinical trials
Case study: How precision medicine is improving clinical trials in hematology and oncology
This document discusses precision medicine and its future applications. It notes that currently many patients do not respond to initial treatments for common conditions like depression, asthma, diabetes and Alzheimer's. Precision medicine aims to change this by using massive datasets including genomics, clinical information, and population data to better understand disease at the individual level and tailor diagnosis and treatment specifically for each patient. This more personalized approach could help get the right treatment to patients more quickly and effectively.
hi.friends this is my first slide presentation which contain the information about the PERSONALIZED MEDICINES.this is the future medicinal treatment so,I hope you people like my presentation.
The document discusses the 2012 Joint Commission National Patient Safety Goals. It provides 3 goals: 1) improve patient identification, 2) improve communication among caregivers, and 3) improve safety of medication use. It also presents several case studies on medication errors and discusses root causes, prevention strategies, and recommendations to reduce errors.
This document discusses genomic and precision medicine. It begins by highlighting early examples of precision medicine through identifying risk factors for diseases. It then outlines the progression from the Human Genome Project to using genomic and other individual data to optimize clinical care through tools like sequencing, data integration and analytics. The document concludes by noting some challenges to implementing genomic and precision medicine in healthcare settings, such as institutional acceptance, access to expertise and testing, integration with electronic health records, and establishing evidence through outcomes studies.
Recent Development in Pharmacogenomics
The summary discusses recent developments in pharmacogenomics including:
1) Recent drug label updates have incorporated genetic information to refine dosing for several drugs including warfarin, abacavir, and tetrabenazine based on CYP enzyme activity.
2) New targeted cancer therapies like crizotinib and vemurafenib have been approved for cancers with specific genetic mutations and require genetic testing to identify responders.
3) Research trends include large genome-wide association studies to identify genetic factors for diseases and drug responses while the FDA has released new guidances on pharmacogenomics.
Educating nursing staff on Beers Criteria and implementing alerts in the electronic medical record when Beers medications are prescribed could decrease potentially inappropriate medication use and adverse drug events in older adults in long-term care. A six-month study would monitor the number of Beers medications flagged, nursing interventions, and effects on prescribing. Results could demonstrate lower adverse event rates compared to facilities without the education and alerts.
Precision medicine is an emerging strategy that considers individual variability in genes, environment, and lifestyle to diagnose, treat, forecast, and prevent disease. As regulatory health authorities begin to develop clearer regulatory pathways in precision medicine, industries must prepare to swiftly adopt to any regulatory changes. This white paper aims to provide a broad overview on the following key topics in precision medicine:
1. Genomics and Pharmacogenetics
2. Precision Medicine vs Personalized Medicine
3. Foundation of Precision Medicine as A Treatment Tool
4. Examples of Precision Medicine as A Treatment, Predictive, and Preventative Tool
5. Precision Medicine and Cancer
6. Challenges, Next Step & Opportunities in Precision Medicine
7. Regulatory insight on Precision medicine
1) Personalized medicine aims to provide customized medical care tailored to individual patients based on their genes, proteins, and environment. This involves optimizing drug therapy based on a patient's predicted response and risk factors.
2) Customized drug delivery systems and 3D printing allow for personalized dosages forms and treatments. Telepharmacy uses technology to provide pharmacy services to remote areas.
3) Pharmacogenomics studies how a patient's genes affect their response to drugs to optimize treatment. It can help identify non-responders, avoid adverse events, and determine the proper drug dosage. Pharmacogenetic testing provides this genetic information.
Genomics, Personalized Medicine and Electronic Medical RecordsLyle Berkowitz, MD
We are now unlocking the secrets of health at a molecular level – which includes not only why some people get diseases, but also how to prevent or cure them. However, as Osler points out, knowing this information is only valuable in the context of making it available for the right patient at the right time.
This presentation provides a basic introduction to genomic or personalized medicine, and discusses how this information can and should be integrated into our electronic medical record systems.
These slides were originally presented at the HIMSS Annual Conference in February of 2007.
1) The document discusses critical issues in prescribing opioids for adult patients in the emergency department. It provides recommendations on 4 critical questions related to opioid prescribing based on a review of the available medical literature.
2) The first critical question addresses whether prescription drug monitoring programs can help identify patients at high risk for opioid abuse. The recommendation is that PDMPs may help with this.
3) The second critical question discusses whether opioids are more effective than other medications for acute low back pain. The recommendations are to consider non-opioid options first and avoid routine opioid prescribing.
4) The third and fourth critical questions and recommendations address appropriate opioid selection and prescribing considerations on discharge for acute pain patients.
The global precision medicine market was valued at USD 50.99 billion in 2018 and is projected to reach USD 88.25 billion by 2023, growing at a CAGR of 11.60%. The market is segmented by ecosystem players, therapeutics, and technology, with cancer being the largest therapeutic segment. Key drivers of growth include increasing investments in precision medicine R&D, rising prevalence of chronic diseases, and advancements in technologies such as genomics, big data analytics, and companion diagnostics.
Personalized Therapies for OA: Can Biomarkers Get Us There?OARSI
This document discusses the potential for using biomarkers to enable personalized therapies for osteoarthritis (OA). It defines key terms like personalized therapies, biomarkers, phenotypes, and endotypes. The presenter argues that biomarkers could help identify the right treatment for individual OA patients by enabling prognostic and predictive enrichment in clinical trials. However, moving biomarkers from discovery to clinical validation and use involves a long process including assay development, testing biological links and hypotheses, and conducting randomized controlled trials. Several studies are highlighted that have discovered potential new biomarkers and are beginning to test biological links and hypotheses regarding how biomarkers may reflect disease processes and response to treatments.
The maturation of genomic technologies has enabled new
discoveries in disease pathogenesis as well as new approaches to patient care.
In pediatric oncology, patients may now receive individualized genomic analysis to identify molecular aberrations of relevance for diagnosis and/or treatment.
Several recent clinical studies have begun to explore the feasibility and utility of genomics-driven precision medicine.
Prevention of adverse drug events in hospitalsantoshbhskr
Dr. Santosh Kumar Bhaskar discusses prevention of adverse drug events in hospitals. A 55-year-old man with liver and kidney issues was admitted for diarrhea and decreased urine output. His condition initially improved with treatment but then deteriorated, with decreasing urine output and worsening liver tests. The doctor considers whether an infectious cause could be resistant to treatment, the patient's liver decompensated, or the treatment plan needs review. Adverse drug events are common in hospitals and increase costs. Prevention requires both provider-based strategies like reviewing high-risk medications and systems-based approaches like computerized order entry and pharmacist interventions.
Examples of Traditional vs. Precision Therapies
1) James Kennedy, Centre for Addiction and Mental Health
2) Niya Chari, CBCN
3) Michael Duong, Roche
4) Linsay Davis, AveXis
5) Josh Silvertown, Bayer Canada
Personalized medicines aim to tailor medical treatment to an individual patient's characteristics, needs, and preferences. This involves considering factors like a patient's DNA, environmental exposures, stress levels, and diet to identify the treatment that will cure their disease without side effects. Personalized medicines can help physicians choose therapies based on a patient's biological information from pharmacogenomics to improve accuracy, efficacy, and compliance compared to traditional one-size-fits-all approaches. Key goals are minimizing wasted drugs and preventing adverse reactions by predicting dosing and treatment responses.
This document discusses personalized medicine, which aims to provide the right treatment for each individual patient based on their genetic profile. It defines personalized medicine as tailoring medical treatment to each patient's characteristics, needs and preferences. The development of genomic sequencing allows for more precise treatment by understanding how genetic variations impact drug metabolism and response. Pharmacogenomics studies how DNA and RNA variations affect drug effectiveness. Implementing personalized medicine through genetic testing can help reduce disease burden by improving prevention, treatment and healthcare costs while minimizing risks.
A slide series to learn and appreciate the importance and the potential of Personalized/Individualized Genomic Medicine. It briefly goes through the idea of biotechnology and the advancements we have made in biology and technology. A series of applications for genomic medicine is then explored, not failing to mention the challenges we have to overcome as well, for the next medical revolution.
A case for personalized medicine is presented.
Precision Medicine: Opportunities and Challenges for Clinical TrialsMedpace
The momentum and muscle behind "finding the right drug for the right patient at the right dose" has further escalated with President Barack Obama’s announcement of a $215 million dollar Precision Medicine Initiative earlier this year. In this webinar, Dr. Frank Smith will explore advances in precision medicine and how it is affecting clinical research. As a pediatric hematologist/oncologist, he will use his extensive clinical and research background as a backdrop for the discussion.
Topics will include:
The evolution of "personalized medicine" to "precision medicine"
How state-of-the-art molecular biology is creating new diagnostic and prognostic strategies
How these new strategies are helping inform the design of clinical trials
Case study: How precision medicine is improving clinical trials in hematology and oncology
This document discusses precision medicine and its future applications. It notes that currently many patients do not respond to initial treatments for common conditions like depression, asthma, diabetes and Alzheimer's. Precision medicine aims to change this by using massive datasets including genomics, clinical information, and population data to better understand disease at the individual level and tailor diagnosis and treatment specifically for each patient. This more personalized approach could help get the right treatment to patients more quickly and effectively.
hi.friends this is my first slide presentation which contain the information about the PERSONALIZED MEDICINES.this is the future medicinal treatment so,I hope you people like my presentation.
The document discusses the 2012 Joint Commission National Patient Safety Goals. It provides 3 goals: 1) improve patient identification, 2) improve communication among caregivers, and 3) improve safety of medication use. It also presents several case studies on medication errors and discusses root causes, prevention strategies, and recommendations to reduce errors.
This document discusses genomic and precision medicine. It begins by highlighting early examples of precision medicine through identifying risk factors for diseases. It then outlines the progression from the Human Genome Project to using genomic and other individual data to optimize clinical care through tools like sequencing, data integration and analytics. The document concludes by noting some challenges to implementing genomic and precision medicine in healthcare settings, such as institutional acceptance, access to expertise and testing, integration with electronic health records, and establishing evidence through outcomes studies.
Recent Development in Pharmacogenomics
The summary discusses recent developments in pharmacogenomics including:
1) Recent drug label updates have incorporated genetic information to refine dosing for several drugs including warfarin, abacavir, and tetrabenazine based on CYP enzyme activity.
2) New targeted cancer therapies like crizotinib and vemurafenib have been approved for cancers with specific genetic mutations and require genetic testing to identify responders.
3) Research trends include large genome-wide association studies to identify genetic factors for diseases and drug responses while the FDA has released new guidances on pharmacogenomics.
Educating nursing staff on Beers Criteria and implementing alerts in the electronic medical record when Beers medications are prescribed could decrease potentially inappropriate medication use and adverse drug events in older adults in long-term care. A six-month study would monitor the number of Beers medications flagged, nursing interventions, and effects on prescribing. Results could demonstrate lower adverse event rates compared to facilities without the education and alerts.
Precision medicine is an emerging strategy that considers individual variability in genes, environment, and lifestyle to diagnose, treat, forecast, and prevent disease. As regulatory health authorities begin to develop clearer regulatory pathways in precision medicine, industries must prepare to swiftly adopt to any regulatory changes. This white paper aims to provide a broad overview on the following key topics in precision medicine:
1. Genomics and Pharmacogenetics
2. Precision Medicine vs Personalized Medicine
3. Foundation of Precision Medicine as A Treatment Tool
4. Examples of Precision Medicine as A Treatment, Predictive, and Preventative Tool
5. Precision Medicine and Cancer
6. Challenges, Next Step & Opportunities in Precision Medicine
7. Regulatory insight on Precision medicine
1) Personalized medicine aims to provide customized medical care tailored to individual patients based on their genes, proteins, and environment. This involves optimizing drug therapy based on a patient's predicted response and risk factors.
2) Customized drug delivery systems and 3D printing allow for personalized dosages forms and treatments. Telepharmacy uses technology to provide pharmacy services to remote areas.
3) Pharmacogenomics studies how a patient's genes affect their response to drugs to optimize treatment. It can help identify non-responders, avoid adverse events, and determine the proper drug dosage. Pharmacogenetic testing provides this genetic information.
Genomics, Personalized Medicine and Electronic Medical RecordsLyle Berkowitz, MD
We are now unlocking the secrets of health at a molecular level – which includes not only why some people get diseases, but also how to prevent or cure them. However, as Osler points out, knowing this information is only valuable in the context of making it available for the right patient at the right time.
This presentation provides a basic introduction to genomic or personalized medicine, and discusses how this information can and should be integrated into our electronic medical record systems.
These slides were originally presented at the HIMSS Annual Conference in February of 2007.
2015 04-13 Pharma Nutrition 2015 Philadelphia Alain van GoolAlain van Gool
Keynote lecture at the Pharma-Nutrition 2015 conference, outline global paradigm shifts and activities in pharma, personalized healthcare and pharmanutrition combination therapies.
1. The document provides an overview of key concepts in pathophysiology including homeostasis, mechanisms of disease, levels of prevention, and medical terminology.
2. Key aspects covered include how normal structure and function relate to disease signs and symptoms, and how disordered physiology leads to specific disease presentations.
3. Maintaining knowledge of pathophysiology helps physicians understand medical histories, develop treatment plans, and integrate various diagnostic findings and tests.
Genetic Testing Reduces Specialty Drug SpendWellDyne
An award-winning WellDyneRx study, recognized by the Academy of Managed Care Pharmacy, found that pharmacogenomics screening saved self-funded employers 5 percent in specialty drug claim costs.
Personalized Medicine: Current and Future Perspectives Personalized Medicin...MedicineAndHealth
The document discusses personalized medicine, including its definitions, current state, and future perspectives. It provides examples of personalized medicine like warfarin dosing and breast cancer risk assessment. It outlines key issues for stakeholders like payers, providers, developers, government, and consumers regarding pharmacogenomics testing, costs, access, and emerging ethical and policy concerns around privacy, informed consent, and potential for discrimination.
Personalised medicines -pharmacogentics and pharmacogenomicsAlakesh Bharali
This seminar basically introduces and explains the learner about what is personalised medicines, what is the need for it, how personalised medicines work. For this, the concept of pharmacogenetics and pharmacogenomics are considered. After going through the presentation, the learner will be able to understand about the concept of pharmacogentics and pharmacogenomics. Certain examples of personalised medicines are included in this seminar.Although personalised medicines are specific and helpful, ins spite of having lots of advantages , it also have some disadvantages which are also specified in this seminar.Although , we speak about personalised medicines, we never saw personalised medicines in our local market. So here is an approach given that , when will we see personalised medicines at the local pharmacy. Again, certain marketed products are also listed in the seminar.Also, the future of personalised medicines is depeicted in the seminar. How medicines will be in a an around 2050 is shown in the seminar. After going through the seminar, the learner would be able to understand about personalised medicines and all its aspects in detail.
DDS personalised medicines M.Pharma 1st Sem Pharmaceutics.pptxkushaltegginamani18
The document discusses personalized medicines and customized drug delivery systems. It defines personalized medicine as using genetic profiling and other individual patient characteristics to guide medical treatment. Customized drug delivery systems aim to optimize drug therapy for each patient by controlling dosage and delivery through technologies like bioelectronic medicines, 3D printing of pharmaceuticals, and telepharmacy.
This document discusses drugs for rare diseases. It begins by defining rare diseases according to different organizations. Rare diseases are individually rare but collectively common, affecting around 6-8% of the global population. Developing drugs for rare diseases is challenging due to the small patient populations and high costs. Governments provide incentives like tax breaks and exclusive rights to encourage pharmaceutical companies to develop orphan drugs. Recent advances in genetics have helped identify causes of many rare diseases and accelerated drug development. While treatment options have increased in recent decades, more understanding and viable treatments are still needed for most rare diseases.
This document discusses the potential for personalized medicine through the use of omics technologies and biomarkers. It notes that while tailoring treatments based on genetic and molecular testing is not entirely new, recent advances in screening methods now enable more widespread biomarker discovery and patient stratification. However, it also cautions that associations found through such studies do not necessarily prove causality. The document explores examples of using biomarkers to stratify patients, like testing for EGFR mutations to identify lung cancer patients most likely to respond to targeted therapies. Overall it frames omics and biomarkers as evolutionizing rather than revolutionizing medicine by facilitating a more differentiated molecular understanding of diseases and their treatments.
Researchers have made a substantial contribution to the field of medical science by providing detailed insights into the critical role that genetics plays in defining an individual's health.
This document discusses the potential for using genetic biomarkers to improve treatment for psychiatric disorders. It notes that while the causes of psychiatric disorders are still unclear, identifying genetic markers that predict treatment response could help tailor medication selection. The document outlines several studies that have identified candidate genes associated with response to antidepressants and other psychotropic drugs. It acknowledges limitations but argues that further research in pharmacogenetics, using larger, more standardized studies, could help incorporate genetic testing into clinical practice to select safer, more effective treatments for individual patients.
This document discusses the potential for genetic biomarkers to improve psychiatric treatment by predicting treatment response. It notes that while causes of psychiatric disorders are unclear, identifying genetic factors can help select the best treatments. Several studies are exploring candidate genes for conditions like depression. Ultimately, genetic testing may guide antidepressant selection in clinical practice, though social and ethical issues require consideration. Biomarkers could enhance psychiatry similarly to other fields by enabling personalized treatment.
SEMINAR ON categories of patients of personalized medicine.pptxPawanDhamala1
This document summarizes categories of patients that can benefit from personalized medicine approaches for several conditions. It discusses how personalized medicine can help patients with depression by identifying characteristics that predict treatment responses. For asthma, it notes how genetics studies are helping determine best treatments. It also outlines how genetic information may guide risk prediction and treatment for cardiac arrhythmias. The document then briefly discusses the potential for personalized treatments for migraine, arthritis, and cancer based on patient biomarkers and genetics.
This document discusses the basics of pathophysiology. It begins by defining anatomy, physiology, and pathophysiology, noting that pathophysiology builds on knowledge of normal structure and function by exploring how disease develops and changes anatomy and physiology. It then discusses several key pathophysiology topics: the causes and mechanisms of disease; how pathologists study tissues and cells to determine disease cause; how normal and abnormal structure and function relate to disease signs and symptoms; and how specific diseases affect individual organ systems based on normal structure and function. The document emphasizes that understanding pathophysiology helps physicians develop effective prevention, diagnostic, treatment, and management strategies for disease.
Transalational Sciences and Clinical Pharmacology in Orphan Drug DevelopmentE. Dennis Bashaw
This document discusses challenges and solutions for developing orphan drugs and implementing precision medicine programs. It notes that orphan drug development faces resource constraints as trials require more patients than rare diseases have. However, using clinical pharmacology tools allows learning from small populations by incorporating biomarkers, modeling, and innovative designs. The future of drug development lies in going beyond traditional trials to involve patients more and continually learn from individual experiences. Quantitative tools during all stages of development can extract maximum knowledge from minimal data to improve understanding, approval chances, and labeling.
2015 05-20 Radboudumc REshape breakfast meeting Alain van GoolAlain van Gool
This document discusses biomarkers in personalized healthcare and moving beyond targeted medicine. It provides an overview of the speaker's background and experience in academia, pharmaceutical industry, and medical school related to biomarkers, omics technologies, and personalized healthcare. It then discusses the exponential developments in biomarker technologies, the need for a systems biology view in personalized healthcare, and translation challenges in bridging the gap between biomarkers and personalized interventions for patients.
The document discusses various aspects of the drug development process including selection of therapeutic targets, approaches to drug discovery, stages of clinical development, and major challenges. Therapeutic needs are determined based on existing therapies, commercial potential, and individualized treatment. Drug discovery approaches include traditional empirical and molecular methods. Clinical development involves phases to test safety, efficacy, and dosing. Major challenges include high costs, regulatory standards, and individualizing treatment.
Basavarajeeyam is an important text for ayurvedic physician belonging to andhra pradehs. It is a popular compendium in various parts of our country as well as in andhra pradesh. The content of the text was presented in sanskrit and telugu language (Bilingual). One of the most famous book in ayurvedic pharmaceutics and therapeutics. This book contains 25 chapters called as prakaranas. Many rasaoushadis were explained, pioneer of dhatu druti, nadi pareeksha, mutra pareeksha etc. Belongs to the period of 15-16 century. New diseases like upadamsha, phiranga rogas are explained.
ABDOMINAL TRAUMA in pediatrics part one.drhasanrajab
Abdominal trauma in pediatrics refers to injuries or damage to the abdominal organs in children. It can occur due to various causes such as falls, motor vehicle accidents, sports-related injuries, and physical abuse. Children are more vulnerable to abdominal trauma due to their unique anatomical and physiological characteristics. Signs and symptoms include abdominal pain, tenderness, distension, vomiting, and signs of shock. Diagnosis involves physical examination, imaging studies, and laboratory tests. Management depends on the severity and may involve conservative treatment or surgical intervention. Prevention is crucial in reducing the incidence of abdominal trauma in children.
Osteoporosis - Definition , Evaluation and Management .pdfJim Jacob Roy
Osteoporosis is an increasing cause of morbidity among the elderly.
In this document , a brief outline of osteoporosis is given , including the risk factors of osteoporosis fractures , the indications for testing bone mineral density and the management of osteoporosis
NVBDCP.pptx Nation vector borne disease control programSapna Thakur
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
Recomendações da OMS sobre cuidados maternos e neonatais para uma experiência pós-natal positiva.
Em consonância com os ODS – Objetivos do Desenvolvimento Sustentável e a Estratégia Global para a Saúde das Mulheres, Crianças e Adolescentes, e aplicando uma abordagem baseada nos direitos humanos, os esforços de cuidados pós-natais devem expandir-se para além da cobertura e da simples sobrevivência, de modo a incluir cuidados de qualidade.
Estas diretrizes visam melhorar a qualidade dos cuidados pós-natais essenciais e de rotina prestados às mulheres e aos recém-nascidos, com o objetivo final de melhorar a saúde e o bem-estar materno e neonatal.
Uma “experiência pós-natal positiva” é um resultado importante para todas as mulheres que dão à luz e para os seus recém-nascidos, estabelecendo as bases para a melhoria da saúde e do bem-estar a curto e longo prazo. Uma experiência pós-natal positiva é definida como aquela em que as mulheres, pessoas que gestam, os recém-nascidos, os casais, os pais, os cuidadores e as famílias recebem informação consistente, garantia e apoio de profissionais de saúde motivados; e onde um sistema de saúde flexível e com recursos reconheça as necessidades das mulheres e dos bebês e respeite o seu contexto cultural.
Estas diretrizes consolidadas apresentam algumas recomendações novas e já bem fundamentadas sobre cuidados pós-natais de rotina para mulheres e neonatos que recebem cuidados no pós-parto em unidades de saúde ou na comunidade, independentemente dos recursos disponíveis.
É fornecido um conjunto abrangente de recomendações para cuidados durante o período puerperal, com ênfase nos cuidados essenciais que todas as mulheres e recém-nascidos devem receber, e com a devida atenção à qualidade dos cuidados; isto é, a entrega e a experiência do cuidado recebido. Estas diretrizes atualizam e ampliam as recomendações da OMS de 2014 sobre cuidados pós-natais da mãe e do recém-nascido e complementam as atuais diretrizes da OMS sobre a gestão de complicações pós-natais.
O estabelecimento da amamentação e o manejo das principais intercorrências é contemplada.
Recomendamos muito.
Vamos discutir essas recomendações no nosso curso de pós-graduação em Aleitamento no Instituto Ciclos.
Esta publicação só está disponível em inglês até o momento.
Prof. Marcus Renato de Carvalho
www.agostodourado.com
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BIO International Convention
1. Rare Diseases Experience as a Model to Critically Affect Innovation in Biomarker Strategy and Precision Medicine Moderator Candida Fratazzi MD Speakers Claudio Carini, PhD, FRCPath GioraFeuerstein MD, MSc. F.A.H.A. Mark TrusheimPhD Colin Williams PhD
6. Biomarker Definition A molecule that indicates an alteration of the physiological state of an individual in relationship to health or disease state, drug treatment, toxins etc Biomarkers are by virtue of their short term availability predictors of long term events
7. Why Biomarkers are Important in Medicine? Staging or Severityof Disease Patient/Subject Selection Safety/Prediction of AE Prognosis of TX intervention Patient/Subject Selection Discriminate Health from Disease Stage Monitoring ClinicalResponse to Therapy
8. The Elephant in the Room Putting it all together Understanding A multi - ” omics ” Qualified Biology Strategy Biomarkers Genechip Target n It ’ s It ’ s UC UC Efficacy n RT - PCR PK/PD n It ’ s It ’ s IHC RA RA Safety/ /Tox It ’ s It ’ s n It ’ s It ’ s SLE SLE AS AS Flow Mechanism n cytometry Pharmacology n Molecular imaging Disease progression n It ’ s It ’ s It ’ s It ’ s Classification Protein n JIA JIA analysis CD CD Precision Medicine n Mass Understanding Spectrometry Drug PK/PD Proteomics profiling
9. Biomarkers: Potential Guides to Effectiveness and Safety The -omics Clinical New study paradigms* Experimental human biology Imaging An Integrated Approach Proteomics Pharmacogenetics Metabonomics
10. Building Bridges Between Research and Clinical Development Exchange of Information Biomarkers - PK - PG - Experimental CP
11.
12. What Patients Expect Today and More So in The Future? BIOMARKERS Drugs that work Drugs that are safe Doses that are right for me 12
13. A fit-for-Purpose Biomarker Qualified Biomarker Clinical endpoints Biology A qualified biomarker must link a biomarker with biology and clinical end-points 13
14. Why Do we Need Biomarkers? To treat diseases more effectively: Disease Biomarkers Disease BM will enable the: 1. Differentiation/stratification of otherwise similar disease states 2. Better identifies which disease states are more responsible to the study drug 3. Evaluation of disease susceptibility 4. Treat high risk pts before the onset of symptoms 5. Tracking disease progression To predict clinical efficacy: Patient Selection BM Patient BM will provide: 1. Explain why Pts are responding differently to different drugs 2. Basis for differentiating “high responders” from “low responders” 3. To target “ high responders” who stand better chances of success
26. Personalized Medicine Foresees Greater Use of Diagnostics in Therapeutic Decision Making Responders Non-Responders Adverse Drug Events Choose the RIGHT DRUGat the RIGHT DOSEfor the RIGHT PERSON A B Dx Test C
27.
28. 2.2 million people are hospitalized and 100,000 deaths occur each year due to adverse effects of prescription drugs
61. Liver: Major source (~90%) of splanchniccortisol release into the circulation
62. SubQ fat: Account for ~10% of cortisol release
63.
64. What We Mean by Stratified Medicine Matching therapies to patient sub-populations with clinical biomarkers Objective: Do more good (efficacy) or avoid ill (adverse reactions) Clinical Biomarkers -- beyond genotyping Molecular (gene expression, proteomic, biochemical) Imaging Clinical observation Patient self-reporting Clinical Biomarkers: Any information which shows a reliable, predictive correlation to differential patient responses
65. The Patient Therapeutic Continuum: Stratified Medicines are not “Personalized” Nature Reviews Drug Discovery: April 2007
66. Orphan Drugs Demonstrate Economic Potential Stratified Medicines Increasingly Approaching Orphan sizes (thousands of patients, average yearly price in $thousands)
67. Comparing Orphan and Stratified Medicines Orphan Stratified Known mechanism & marker Small population Strong patient and provider networks Modest payer impact Known mechanism & marker May be small or large population Perhaps unrecognized strata and no networks Modest payer impact for one, but large if entire field (like oncology) stratifies
68. When are Orphan Drugs Good Models for Stratified Economics? Stratification creates a small population Strong patient advocacy exists Clinical trial and regulatory models for small populationsBUT Market exclusivity and lower competition may not apply Payer concern that a large stratified condition is not ‘rare’10% of all Alzheimer’s patients is a lot of patients, and cost.
69. Orphans Modeling Stratified Medicines: Expect Price and Profitability Premiums? Supporting Arguments Stratified medicines will perform substantially better for their target populations than alternative treatments (assumption) Recently introduced therapies have commanded price premiums: biologics, stratified medicines, adjuvant therapies Payers have formal or informal policies to “pay for performance” Counter Arguments Limited payer ability to afford increased costs Diagnostics will siphon profitability Multiple entrants in new “stratified” drug classes will lower prices Analytical Task Develop a Performance Differential/Price Premium curve by examining price premiums obtained in the market today by “classic” therapies LIKE ORPHAN DRUGS Price Premium Performance Differential
70. Orphans Modeling Stratified Medicines: Development Processes Opportunities Strong patient and provider networks to enable clinical trials Novel clinical trial designs to accommodate few patients available can speed development and lower costs Potentially more rapid entry into man based on strong mechanism understanding and high need Challenges Need to develop and validate biomarker lower since embedded in diagnosis Regulatory skepticism that stratification is tactic to avoid ‘gold standard’ clinical trials Clinical Trial Size Biomarker Driven Performance Differential Potential: Lower Cost and Higher Success Probability of Regulatory Approval
71. Orphans Modeling Stratified Medicines: Public Policy and Incentives? Federal Research and Development Support NIH grants for research, and even development (Bench to Bedside Awards) Expedited regulatory pathways Federal Financial Incentives Market exclusivity grants to INDICATION High value reimbursement R&D support above Registries to identify, monitor and involve patients and samples Role for Disease Foundations Awareness, network creation and dissemination Direct research support Expert science panels validates early, small company science
72. Orphan Learnings in Stratified Medicine Examples Tysabri re-introduction for Multiple Sclerosis enabled by patient advocacy, patient registries and now, a biomarker Rare oncology sub-populations receiving Orphan level reimbursement Provenge autologous stem cell therapy: $93,000 for 3 course regimen Erbitux and Vectibis: Up to $80,000 for 18 week regimen Revlimid: Up to $10,000 per month for multiple myeloma Gleevec: Up to $54,000 per year for CML High market shares (>80%) are possible
73. Conclusions Rare diseases and orphan drugs have blazed the trail for stratified medicine economic models From clinical development through regulatory to reimbursement and public policy, the lessons of rare diseases are being translated to stratified medicine However, the aggregate size of some stratified medicine markets may strain payers and induce skepticism by regulators that special treatment is appropriate An ‘integrated stakeholder chain” from research foundations to companies, regulators, payers and advocates is critical
74. Information in Biomarker discovery How effective use of information resources can support innovation Dr. Colin Williams Thomson Reuters
122. Disease segmentation based on molecular characteristics is going to create many new orphan diseases.
123. Will the ophan disease ‘model’ become the life blood of pharmaceutical research
124. There are many biomarkers available which can prove efficacy of a compound.
125. Using Mesothlioma (or other orphan diseases) as a model can prove efficacy against a target quickly.
126. Understanding the biological function of that target can open new indications for a therapeutic
Editor's Notes
A qualified biomarker must link a biomarker with biology and clinical end points.Wagner, Webster, 2007, Nature
SMs are therapies that are matched to patient subpopulations with the aid of clinical biomarkers that predict with some reliability patient differential response – be it in efficacy or safety. Our notion of clinical biomarkers is not limited to genotyping – also includes imaging, clinical observation, or even patient self-report (urge vs. stress incontinence, self-identified black person).