Direct to consumer genetic testing provides ancestry and health risk information directly to consumers but has significant limitations. While it may promote health awareness, unexpected results can be stressful and consumers may make important medical decisions based on inaccurate or incomplete information from unregulated tests. The high rate of false positives seen in confirmatory testing suggests many consumers are receiving incorrect information from these tests. Regulatory bodies have concerns about oversight, accuracy, and inappropriate use of genetic data that could impact consumers.
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 provides an overview of biopharmaceuticals. It discusses how biopharmaceuticals are medical drugs produced using biotechnology, especially genetic engineering. Some key points made in the document include:
- Biopharmaceuticals include cytokines, enzymes, hormones, monoclonal antibodies, and other protein or nucleic acid based therapies.
- Emerging biopharmaceutical technologies include monoclonal antibody production, vaccine manufacturing improvements, and non-ribosomal peptide synthesis.
- Biopharmaceuticals have changed treatment for diseases like diabetes and cancer by being tailored to specific medical problems in individuals with fewer side effects than traditional drugs.
Personalized medicine uses a patient's genetic profile to determine the best medication, therapy, and dose for treating and preventing disease. It allows targeting of treatment based on an individual's genetic makeup, which can influence drug metabolism and efficacy. Pharmacogenetics studies how genetic variations affect individual responses to drugs by influencing protein functions like metabolism and transport. Genetic testing can predict treatment responses before starting therapy to optimize treatment selection and reduce adverse reactions.
The document discusses clinical trial regulation in the European Union. It provides information on two key directives - Directive 2001/20/EC which describes requirements for conducting clinical trials in the EU, and Commission Directive 2005/28/EC which implements principles of good clinical practice. It then summarizes Regulation 536/2014 adopted in 2014 which established a new regulation for clinical trials of medicinal products in the EU with the aim of increasing patient safety, reliability of data, and efficiency of trials. The regulation includes provisions for single submission of documentation, centralized assessment, transparency, informed consent, and safety reporting among others.
Medical Biotechnology (Recent Development)AnkitaShende1
The document summarizes recent developments in medical biotechnology, including the Human Genome Project and applications of genetic testing. It discusses how the Human Genome Project mapped the human genome for under its estimated $3 billion budget. The project has fueled the discovery of over 1,800 disease genes. There are now over 2,000 genetic tests that can assess genetic risks for diseases and help with diagnosis. Biotechnology in hospitals utilizes pharmacogenomics to study how genes affect medication responses and gene therapy which uses genes to treat or prevent diseases.
The role of real world data and evidence in building a sustainable & efficien...Office of Health Economics
This presentation defines RWD and RWE in the context of digital health, and looks at potential uses for RWD and RWE. It briefly sets out the current landscape in Malaysia and looks at the challenges in using RWE. In particular, the issues of access, governance and ensuring good quality are considered.
TSDP tells about the essential documents that are required for the #conduct of a clinical trial. For #regulatory medical writing training, contact hello@turacoz.in.
Have full fleged clinical trial data management systems which bring them a good amount of business and revenue.
CDM is a fundamental process which controls data accuracy of each trial besides helping the timelessness to be achieved.
It helps in linking clinical research co-ordinator = who monitor all the sites & collects the data.
it Links with biostatisticians = who analyze, interpret and report data in clinically meaningful way.
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.
This document discusses drug master files (DMFs), which contain confidential information submitted to the FDA about a drug's chemistry, manufacturing, and controls. There are 5 types of DMFs:
Type I contains information about a manufacturing site and facilities. Type II contains details about drug substances and intermediates. Type III covers packaging materials. Type IV is for excipients and materials used in their preparation. Type V is for reference information not covered in the other types, like clinical or toxicity data, after discussion with the FDA. A DMF is submitted voluntarily to support applications like an IND, NDA, or ANDA, but is not itself approved or disapproved. It provides confidential information that can be referenced in
Next Generation Sequencing & DNA Synthesis: Technology, Consumables Manufactu...Yole Developpement
This document provides a summary of a report by Yole Développement on next-generation DNA sequencing and DNA synthesis technologies. The report provides an overview of the market and technology landscapes, including descriptions of established and emerging sequencing technologies. It also analyzes the supply chain and provides market data, forecasts, and analysis. The report finds that the number of sequencing instruments is expected to more than double by 2024, driving growth in the number of sequencing consumables from 1.28 million units in 2018 to 4.19 million units in 2024. This rapid adoption represents significant opportunities for companies along the semiconductor supply chain to provide enabling technologies for sequencing consumables.
This document discusses genomics and proteomics based drug discovery. It explains that genomics involves sequencing genomes to understand gene functions and interactions, while proteomics studies protein expression and interactions. The document outlines how structural bioinformatics and techniques like protein-ligand docking can help in drug target identification and rational drug design. It also discusses how proteomics can aid in various stages of drug discovery like target identification and validation.
This document contains contact information for Altacit, an organization that conducts clinical trials in India. It lists addresses and phone numbers for Altacit offices in Chennai, Bangalore, and Coimbatore. It also provides an email and website. The document contains several sections that discuss the history and evolution of clinical trials, different methods used in clinical trials, the drug development and approval process, and participation in clinical trials. It emphasizes that clinical trials are important for evaluating new treatments and protecting participant safety.
The document discusses the Federal Food, Drug, and Cosmetic Act (FFDCA) and the Kefauver-Harris Amendments of 1962. The FFDCA was passed in 1938 in response to tragedies from unsafe drugs and gave more authority to the FDA. The Kefauver-Harris Amendments of 1962 required drug manufacturers to prove a drug's efficacy and safety before approval in response to the thalidomide crisis. The amendments strengthened pre-market drug approval processes and mandated new drug efficacy studies.
VarSeq 2.3.0: New TSO-500 and Genomic Signature Support in VSClinical AMPGolden Helix
Precision medicine for cancer is rapidly accelerating because of the development and approval of targeted molecular therapies. These therapies require new genomic biomarkers as an indication for use, and require evaluating additional mutation types that are available in comprehensive genomic profiling assays as well as the small variants detected by Next-Generation Sequencing gene panels.
We are excited to announce VarSeq 2.3.0 which will update the VSClinical AMP workflow to meet the growing needs of labs conducting comprehensive genomic profiling (CGP) of tumors. This includes built-in support for the Illumina TruSight Oncology 500 (TSO-500) kit as well as similar kits from other vendors. The VSClinical AMP workflow has also gained native support for the bioinformatic outputs of CGP kits. Join us to learn about comprehensive genomic profiling in cancer, specifically:
Evaluation and clinical reporting of genomic signatures such as Microsatellite (MSI), Tumor mutation burden (TMB), PD-L1, Homologous recombination deficiency (HRD) statuses, and more.
Built-in TSO-500 import and expandable import capabilities for new genomic data types through the new advanced workflow scripting system.
Golden Helix CancerKB updates with report-ready genomic-signature interpretations written for approved therapies as well as gene interpretations for all 500 genes of the TSO-500 panel. In addition, CancerKB scopes have been extended to reference multiple relevant biomarkers in a single interpretation, capture approved therapies at the tumor type level, and include interpretations for clinically relevant negative findings.
Expanded clinical trial support to include international trials and the ability to search within proximity of European postal codes. VSClinical is accessing all active studies in AACT/ClinicalTrials.gov wherein users can search and select trials based on relevant drugs, biomarkers, and the geographic distance to the patient or testing site.
VarSeq 2.3.0 will deliver powerful capabilities for genomic profiling in cancer, enabling a new level of personalized and effective care for your patients. We look forward to demonstrating these updates and Golden Helix’s continued innovation making the VarSeq Clinical Suite the NGS analysis platform of choice for germline and cancer testing.
August 2, 2014 presentation to the Orange County Regulatory Affairs (OCRA) Discussion Group Regulatory Affairs Certification (RAC) Review Course, with a focus on:
• History of FDA
• Overview of US Legal System
• General Structure of FDA
• FDA Definitions
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.
In any work or process documents that are needed before initiation, Between or generally the end of the process just like in a clinical trial those “Documents which permit evaluation of the conduct of a trial and the quality of the data produced. It is given in the 8th section of the ICH-GCP.
The document summarizes a business plan presentation for a proposed reference laboratory for pharmacogenomics. The founders, Sandeep Saxena and Sunil Kumar, have experience in life sciences and business. They propose to establish a laboratory that performs genetic tests to predict patients' responses to drugs, with an initial focus on cancer therapies. This could help identify patients likely to benefit from drugs, experience side effects, or be at high risk, in order to optimize treatment outcomes. The business plan outlines market opportunities, examples of genetic tests, the team, advisors, competition, risks, finances, investments required, and next steps.
Take a look at the below link and then answer the below questions .docxssuserf9c51d
Take a look at the below link and then answer the below questions from each of their points of view:
Link: https://www.ted.com/talks/john_wilbanks_let_s_pool_our_medical_data/transcript?language=en
When you're getting medical treatment, or taking part in medical testing, privacy is important; strict laws limit what researchers can see and know about you. But what if your medical data could be used — anonymously — by anyone seeking to test a hypothesis? John Wilbanks wonders if the desire to protect our privacy is slowing research, and if opening up medical data could lead to a wave of health care innovation.
For this blog and tying all the topics covered in the class about the epistemology of knowledge, what is your opinion on this matter? Should we share or should we not share? To be or not to Be?
I want you to answer this from different points of view:
The Patient:
The Mother/Father/Son/Daughter/Husband/Wife/Partner/Friend who is trying to help:
The Doctor:
The Hospital Administrator:
The Researcher:
The Companies/Big Pharma:
The Government:
The Government Watchdogs making sure rules are enforced:
The Philanthropists:
He slammed the papers down on the table. "Doctor, I won't do it! I just saw on the news that the prostate blood test is useless at my age. It's milking the system." His face showed determination and defiance as his wife looked on in the corner. No amount of entreating could get him to budge on the subject. Forget the 10 years of my life I had sacrificed in the pursuit of medical knowledge, he had crowdsourced on Facebook information about the prostate specific antigen test; the difference is subtle, but I had gone to medical school and he had gone to Google. Posting information on their health and all their test results is a routine event for Friday Facebook users. Proclaiming quackery, he left my office determined never to return.
Patients want that aggregation of data. Appealing to their practical nature, the more data, the faster we get to a solution, and if it contributes to research and a better future, it can only be the right decision. Family and friends would likely agree, maintaining that in the best interest of the patient, posting data, even without the benefit of anonymity, is acceptable. As MIPS / MACRA move towards population management, more integrated metrics would be of great interest to the hospital administrator as well and allows for an understanding of which markets are likely to produce the best reimbursements by virtue of their higher baseline of health; not surprisingly, we know higher income demographics produce the most compliant patients with the best medical outcomes, which is why most hospitals now are closing shop in poor neighborhoods, despite their need, and opening up in upscale areas with not only an assured revenue stream of insured clients, but better access to medications for diabetes control, better access to nutrition which means faster and improved healing post-surgery, and lower l ...
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.
Cancer principles & practice of oncologySAMANTHA Lopez
This chapter provides an overview of cancer genetic counseling. Cancer genetic counseling is a communication process that assesses an individual's cancer risk based on their family history of cancer. The goals are to provide clients with an understanding of their risk, emotional support, and determine if cancers in the family could be due to a hereditary cancer syndrome. There are over 30 hereditary cancer syndromes that can be caused by mutations in different genes, so genetic testing for these syndromes can be complex. The chapter emphasizes that accurate cancer risk assessment and counseling requires specialized training.
Use of Genetic Databases to Advance Diagnostic Test DevelopmentEMMAIntl
In December 2018, the U.S. Food and Drug Administration formally recognized a public database that contains information about genes, genetic variants, and their relationship to disease. This blog discusses the motivation for creating such public databases and the implications for developers of genetic tests...
Humans are 99% similar to each other; but it is the 1% that is the cause of concern. This relatively small difference actually how a drug will effect our body. Pharmacogenomics is the study of how genes affect a person’s response to drugs. In order to prevent any unwanted reactions it has become necessary to consider one's genome while prescribing medicine. Thus pharmacogenomics is the starting point of personalized medicine.
LabSolutions offers molecular risk tests that analyze multiple genes associated with increased risk of certain diseases. The tests use next generation sequencing and other techniques to identify variants in these genes. While the tests do not diagnose conditions, positive results may inform medical management and be relevant for relatives. The report should be reviewed with a healthcare provider trained to interpret genetic results.
What Your Saliva Reveals About You: Direct-to-Consumer Genetic TestsEMMAIntl
Direct-to-consumer (DTC) tests, such as those marketed by 23andMe, are changing the classic paradigm of health professionals ordering and interpreting genetic testing for a patient. In this article, we provide an overview of the DTC landscape and regulatory pathways...
Possible Solution for Managing the Worlds Personal Genetic Data - DNA Guide, ...DNA Compass
World DNA Day and Genome Day, Dalian China 2011
"Possible Solution for Managing the Worlds Genetic Data" given by Alice Rathjen, Founder & President DNA Guide, Inc.
Proposes genetic tests be given a rating for quality of science, medical utility and viewing risk so as to facilitate the flow of genetic information in a responsible manner from the lab to the physician and patient. Explains how technology combined with public policy could enable both privacy and personalized medicine to thrive. Advocates individual ownership over personal genetic data and suggests the genome as a data format could provide the foundation for digital human rights.
tags: DNA, genetic testing, privacy, personalized medicine, FDA regulation
Global Medical Cures™ | Genetic Testing Handbook
DISCLAIMER-
Global Medical Cures™ does not offer any medical advice, diagnosis, treatment or recommendations. Only your healthcare provider/physician can offer you information and recommendations for you to decide about your healthcare choices.
Genetic testing identifies changes in chromosomes, genes, or proteins. There are several types of genetic tests, including newborn screening, diagnostic testing, carrier testing, prenatal testing, preimplantation testing, predictive/presymptomatic testing, and forensic testing. Genetic tests are performed on samples like blood or tissue and require informed consent. Results can provide health information but also have limitations since not all genetic causes are understood.
The document discusses integrating genomic testing and remote cancer advisory services to improve cancer diagnosis and treatment in developing countries. It outlines several barriers to international patients accessing these services, including lack of knowledge, high costs, language barriers, and difficulty interpreting genomic test results. An integrated service is proposed that would provide genomic testing, remote advisory support from major US cancer centers, and diagnostic decision support to address these barriers. This could help minimize diagnostic errors and improve outcomes for patients in developing countries.
This document discusses different methods for drug safety surveillance, including passive and active surveillance. Passive surveillance involves voluntary reporting of adverse drug reactions by healthcare professionals, while active surveillance proactively collects data through methods like monitoring sentinel sites. Other discussed methods include spontaneous reporting, case series, stimulated reporting, medicine event monitoring, registries, cross-sectional studies, case-control studies, cohort studies, and targeted clinical investigations. Large databases and targeted studies can provide important safety information collected through various surveillance techniques.
Direct To Consumer Genomics and the Future of HealthcareRyan Squire
Richard Sharp, Ph.D., Director of Bioethics Research at the Cleveland Clinic presents on direct-to-consumer genomics and the future of health care.
Dr. Sharp received his training in philosophy and medical ethics at Michigan State University.
Prior to joining the Cleveland Clinic in 2007, Dr. Sharp taught bioethics at Baylor College of Medicine and the National Institute of Environmental Health Sciences, one of the National Institutes of Health (NIH), where he directed the Program in Environmental Health Policy and Ethics.
His research examines the promotion of informed patient decision-making in clinical research, particularly research that involves genetic analyses.
2018 Genetic Testing Assessment: These slides discuss issues associated with genetic testing interpretation. All who order genetic testing should be familiar with these recent publications.
At least one in every 20 adults who seeks medical care in a U.S. emergency room or community health clinic may walk away with the wrong diagnosis, according to a new analysis that estimates that 12 million Americans a year could be affected by such errors.
Experts have often downplayed the scope of diagnostic errors not because they were unaware of the problem, but “because they were afraid to open up a can of worms they couldn't close.
Post marketing studies of drug effects must then generally include at least 10,000 exposed persons in a cohort study, or enroll diseased patients from a population of equivalent size for a case–control study. A study of this size would be 95% certain of observing at least one case of any adverse effect that occurs with an incidence of 3 per 10 000 or greater (see Chapter 3). However, studies this large are expensive and difficult to perform. Yet, these studies often need to be conducted quickly, to address acute and serious regulatory, commercial, and/or public health crises. For all of these reasons, the past two decades have seen a growing use of computerized databases containing medical care data, so called “automated databases,” as potential data sources for pharmacoepidemiology studies.
Patient safety has always been the industry’s focus during clinical trials. However, a recent spate of well-publicized patient safety issues have increased public scrutiny and the biotechnology, pharmaceutical and CRO industries' desire to improve study quality, resulting in larger, longer, more expensive trials. In this Q&A, James T. Gourzis, M.D., Ph.D., discusses issues affecting patient safety, including factors that have launched safety to the forefront; what to look for in evaluating CRO excellence; unique oncology considerations and the ramifications of the rare toxicity; optimizing the Data Monitoring Committee; budget decisions that affect patient safety and the evolution/future of FDA requirements.
There are only around 500 geneticists and 2,400 genetic counselors in the U.S. to help integrate genomic medicine into patient care. DNA Direct aims to address this shortage and other barriers through technology solutions that provide education, decision support, and expert guidance to patients, providers, payors, and medical centers. Their programs have shown success in improving patient compliance with genetic screening and understanding of test results.
The document discusses diagnostic error in healthcare. It begins by noting that inaccurate diagnoses, incorrect treatments, and lack of diagnoses contribute to unnecessary costs, inefficiency, and patient dissatisfaction. Improving diagnostic accuracy can help achieve quality, control costs, and increase patient satisfaction. The document then discusses:
- The high incidence of diagnostic errors, which result in tens of thousands of deaths per year and enormous financial tolls.
- Evidence that diagnostic errors commonly cause patient harm and occur across primary care, inpatient, and outpatient settings.
- An innovative solution of independent virtual second opinions to address diagnostic errors by improving accuracy and ensuring appropriate treatment.
Genetic testing in neurology is becoming more common and offers potential for diagnosis confirmation and prognosis. The neurologist needs to be aware of testing indications, standards, and risks of inappropriate use. Genetic testing can be used for diagnostic, prenatal, predictive, carrier, and disease risk purposes, as well as pharmacogenetics. Providing counseling before and after testing is important to discuss implications and avoid misinterpretations of results.
Slides faod - the other mitochondrial energy diseases - vockleymitoaction
Jerry Vockley is the director of the Center for Rare Disease Therapy at the University of Pittsburgh. The center conducts research on novel therapies for inborn errors of fatty acid oxidation using a personalized medicine approach. Some key points from the document:
- The center is researching therapies for rare genetic diseases including anaplerotic therapy and use of medium chain triglycerides.
- Clinical trials have shown that triheptanoin reduces events in fatty acid oxidation disorders and improves cardiac function.
- Other potential therapies discussed include transcriptional activators, antioxidants, chaperones, and gene therapy approaches.
- Collaborations with pharmaceutical companies are exploring drug development approaches for disorders like VLC
This document provides resources for those affected by mitochondrial disease. It summarizes the types of support that may be helpful, including health care needs, emotional support, basic needs, and community services. Mary Castro Summers is introduced as someone passionate about sharing community resource information and connecting families supporting loved ones with special health care needs. Her experience includes working with organizations that assist families impacted by mitochondrial disease.
Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunctionmitoaction
This document summarizes a presentation by Dr. Richard E. Frye on mitochondrial dysfunction in neurodevelopmental disorders and autism. The presentation covers:
- Evidence that mitochondrial dysfunction is involved in many diseases and now believed to be important in autism based on studies showing abnormalities in electron transport chain complexes in autistic children.
- Further studies demonstrating differences in mitochondrial reserve capacity between autistic children and controls, and associations with environmental exposures like air pollution.
- Research into mechanisms of dysfunction including effects of the gut microbiome, genes, and potential treatments like mitochondrial cocktails.
This document provides background information on mitochondria and mitochondrial diseases, and discusses supplementation strategies. It describes how mitochondria produce energy in cells and how damage can accumulate over time. Available therapies include supplements like CoQ10, riboflavin, L-carnitine, folinic acid, L-arginine, NAC, and other vitamins/antioxidants. Side effects and considerations for dosing and monitoring are reviewed to safely utilize supplementation for mitochondrial diseases.
Three sentences summarizing the key points:
1) Infection can be detrimental for patients with mitochondrial disease as it increases their metabolic demands and immune responses can further damage mitochondria.
2) Some patients with mitochondrial disease may have immune dysfunction, shown by recurrent infections, hypogammaglobulinemia, poor vaccine responses, and impaired clearance of viruses.
3) The NIH MINI study aims to characterize immune function and risks of infection in mitochondrial disease patients through longitudinal monitoring to help mitigate health risks.
The document discusses how infection can be detrimental for patients with mitochondrial disease due to the increased energy demands and potential immune dysfunction. It outlines how the immune system may be compromised in mitochondrial disease based on clinical observations of increased infections and poor vaccine responses in some patients. Animal studies show that mitochondrial dysfunction within immune cells can impair their function and response to infection.
MitoAction Mobile is a mobile app that allows patients with mitochondrial disease to create and track care plans, share tasks and symptoms with their care team, and view symptom history. The app provides secure messaging with doctors and nurses and full reporting of medical information to help coordinate care. MitoAction Mobile aims to revolutionize mitochondrial disease management through comprehensive care planning and communication tools available on patients' mobile devices.
-What are Standards of Care and why does the Mito community need such standards?
-Review the MMS's Standards of Care for Mitochondrial Disease and how they were developed.
-Outline upcoming MMS projects.
This document summarizes Leigh syndrome, a rare neurological disorder caused by defects in mitochondrial energy production. It describes Dr. Denis Leigh's original 1951 case report that defined the syndrome. Over time, MRI and genetic testing allowed diagnosis of different mitochondrial disorders collectively termed Leigh syndrome. Current understanding is that Leigh syndrome has various genetic causes but commonly involves symmetrical brain lesions and early developmental regression. No effective treatments exist but research continues into therapies like idebenone, sodium pyruvate, and rapamycin.
This document discusses when an alternative diagnosis to mitochondrial disease should be considered. It notes that while mitochondrial diseases affect 1 in 4,000 people, the symptoms can overlap with other genetic disorders. It provides examples of "red flags" where alternative diagnoses may be more likely, such as predominantly seizure disorders, developmental delays with dysmorphic features but no other system involvement, or isolated myopathies. It emphasizes the importance of fully evaluating for other causes before concluding a mitochondrial diagnosis and considering genomic testing to reach the correct diagnosis when atypical features are present. Reaching the accurate diagnosis is critical for treatment and family planning.
What you should know about genetic testing for mitochondrial disordersmitoaction
Amanda Balog, CGC, Senior Genetic Counselor, Mitochondrial and Metabolic Genetics, of GeneDx discusses: "What You Should Know About Genetic Testing for Mitochondrial Disorders."
Richard Frye, MD, PhD, FAAP, FAAN, CPI, will discuss:
*The enteric (gut) microbiome has an important influence on health and disease states in humans.
* The enteric microbiome influences the human host using chemical mediators, some of which can directly affect mitochondrial function
* Short chain fatty acids produced by gut bacteria not only modulate mitochondrial function and cellular regulatory pathways, but can also be used as mitochondrial fuels.
This document discusses mitochondrial replacement therapy (MRT) as a potential treatment for mitochondrial diseases caused by mutations in mitochondrial DNA. It provides background on mitochondrial genetics and diseases. MRT aims to prevent transmission of mitochondrial mutations by transferring nuclear DNA from a patient's egg to a donor egg with healthy mitochondria, using techniques like spindle transfer. The document outlines research progress, including the first reported birth from MRT. It notes MRT is approved in the UK but still under study in the US. It also describes inclusion criteria for research participation and acknowledges collaborators supporting MRT research efforts.
Mitochondria and MitoQ – A research updatemitoaction
Greg Macpherson presented an update on research related to mitochondria and MitoQ. Some key points include:
- MitoQ was discovered at Otago University in New Zealand and is a mitochondria-targeted antioxidant.
- Over 200,000 patient months of experience and availability in over 100 countries.
- Research has included over 50 million USD invested and 200+ published papers involving 70+ disease models.
- Clinical trials have shown benefits for conditions such as fibromyalgia, chronic fatigue syndrome, and type 2 diabetes.
- Mouse and human research has demonstrated reductions in oxidative stress, inflammation, and markers of disease from conditions such as liver fibrosis when taking MitoQ.
- Future research
Day-to-Day Management of Mitochondrial Diseasemitoaction
MitoAction provides support for individuals and families affected by mitochondrial disease. Their vision is to create a worldwide community for mitochondrial disease patients. Mitochondrial disease is caused by failures of the mitochondria, which act as the cell's powerhouse. Symptoms can vary widely and affect multiple body systems. Management of mitochondrial disease focuses on treating symptoms, managing energy levels, addressing nutritional needs, and preventing triggers. Comprehensive care involves monitoring for complications and coordinating with multiple medical specialists.
Exercise and nutrition in Mitochondrial Diseasemitoaction
Mark Tarnopolsky, MD, PhD, FRCP,
Depts. of Pediatrics (Neuromuscular + Neurometabolic Disease) and Medicine (Cell Biology/Metabolism, Neurology and Rehabilitation), McMaster University, Hamilton, CANADA
Diagnostic Testing for Mitochondrial Diseasemitoaction
Review traditional diagnostic pathways
Discuss newer testing that has become available in recent years
Review new approaches to attempt to shorten time to diagnosis and increase precision
How to Build Your Mitochondrial Medical Homemitoaction
The document provides guidance on how to build a "medical home" for patients with mitochondrial disease by establishing a primary care physician to coordinate care across various specialists. It emphasizes finding a "quarterback" for the healthcare team and providing that physician with resources on mitochondrial disease. The medical home model aims to improve outcomes through coordinated, patient-centered care rather than a previous fee-for-service model.
The document discusses planning for summer programs for students with disabilities, noting that most students experience regression over the summer without continued services and support. It outlines factors for IEP teams to consider when determining if extended year services are needed, such as demonstrated regression or difficulty relearning skills. The document also provides guidance on reviewing a child's health plan, evaluating proposed summer programs, and participating in IEP meetings to ensure a child's needs are met.
TEST BANK For Katzung's Basic and Clinical Pharmacology, 16th Edition By {Tod...rightmanforbloodline
TEST BANK For Katzung's Basic and Clinical Pharmacology, 16th Edition By {Todd W. Vanderah, 2024,} Verified Chapter
TEST BANK For Katzung's Basic and Clinical Pharmacology, 16th Edition By {Todd W. Vanderah, 2024,} Verified Chapter
TEST BANK For Katzung's Basic and Clinical Pharmacology, 16th Edition By {Todd W. Vanderah, 2024,} Verified Chapter
Chair, Benjamin M. Greenberg, MD, MHS, discusses neuromyelitis optica spectrum disorder in this CME activity titled “Mastering Diagnosis and Navigating the Sea of Targeted Treatments in NMOSD: Practical Guidance on Optimizing Patient Care.” For the full presentation, downloadable Practice Aids, and complete CME information, and to apply for credit, please visit us at https://bit.ly/4av12w4. CME credit will be available until June 27, 2025.
Why Does Seminal Vesiculitis Causes Jelly-like Sperm.pptxAmandaChou9
Seminal vesiculitis can cause jelly-like sperm. Fortunately, herbal medicine Diuretic and Anti-inflammatory Pill can eliminate symptoms and cure the disease.
Hepatocarcinoma today between guidelines and medical therapy. The role of sur...Gian Luca Grazi
Today more than ever, hepatocellular carcinoma therapy is experiencing profound and substantial changes.
The association atezolizumab (ATEZO) plus bevacizumab (BEVA) has demonstrated its effectiveness in the post-operative treatment of patients, improving the results that can be achieved with liver resections. This after the failure of the use of sorafenib in the already historic STORM study.
On the other hand, the prognostic classification of BCLC is now widely questioned. It is now well recognized that the indications for surgery for patients with hepatocellular carcinoma are certainly narrow in BCLC and no longer reflect what is common everyday clinical practice.
Today, the concept of multiparametric therapeutic hierarchy, which makes the management of patients with hepatocellular carcinoma much more flexible and allows the best therapy for the individual patient to be identified based on their clinical characteristics, is gaining more and more importance.
The presentation traces these profound changes that are taking place in recent years and offers a modern vision of the management of patients with hepatocellular carcinoma.
JMML is a rare cancer of blood that affects young children. There is a sustained abnormal and excessive production of myeloid progenitors and monocytes.
A comparative study on uroculturome antimicrobial susceptibility in apparentl...Bhoj Raj Singh
The uroculturome indicates the profile of culturable microbes inhabiting the urinary tract, and it is often required to do a urine culture to find an effective antimicrobial to treat UTIs. This study targeted to understand the profile of culturable pathogens in the urine of apparently healthy (128) and humans with clinical UTIs (161). In urine samples from UTI cases, microbial counts were 1.2×104 ± 6.02×103 colony-forming units (cfu)/ mL, while in urine samples from apparently healthy humans, the average count was 3.33± 1.34×103 cfu/ mL. In eight samples (six from UTI cases and two from apparently healthy people) of urine, Candida (C. albicans 3, C. catenulata 1, C. krusei 1, C. tropicalis 1, C. parapsiplosis 1, C. gulliermondii 1) and Rhizopus species (1) were detected. Candida krusei was detected only in a single urine sample from a healthy person and C. albicans was detected both in urine of healthy and clinical UTI cases. Fungal strains were always detected with one or more types of bacteria. Gram-positive bacteria were more commonly (OR, 1.98; CI99, 1.01-3.87) detected in urine samples of apparently healthy humans, and Gram -ve bacteria (OR, 2.74; CI99, 1.44-5.23) in urines of UTI cases. From urine samples of 161 UTI cases, a total of 90 different types of microbes were detected and, 73 samples had only a single type of bacteria. In contrast, 49, 29, 3, 4, 1, and 2 samples had 2, 3, 4, 5, 6 and 7 types of bacteria, respectively. The most common bacteria detected in urine of UTI cases was Escherichia coli detected in 52 samples, in 20 cases as the single type of bacteria, other 34 types of bacteria were detected in pure form in 53 cases. From 128 urine samples of apparently healthy people, 88 types of microbes were detected either singly or in association with others, from 64 urine samples only a single type of bacteria was detected while 34, 13, 3, 11, 2 and 1 samples yielded 2, 3, 4, 5, 6 and seven types of microbes, respectively. In the urine of apparently healthy humans too, E. coli was the most common bacteria, detected in pure culture from 10 samples followed by Staphylococcus haemolyticus (9), S. intermedius (5), and S. aureus (5), and similar types of bacteria also dominated in cases of mixed occurrence, E. coli was detected in 26, S. aureus in 22 and S. haemolyticus in 19 urine samples, respectively. Gram +ve bacteria isolated from urine samples' irrespective of health status were more often (p, <0.01) resistant than Gram -ve bacteria to ajowan oil, holy basil oil, cinnamaldehyde, and cinnamon oil, but more susceptible to sandalwood oil (p, <0.01). However, for antibiotics, Gram +ve were more often susceptible than Gram -ve bacteria to cephalosporins, doxycycline, and nitrofurantoin. The study concludes that to understand the role of good and bad bacteria in the urinary tract microbiome more targeted studies are needed to discern the isolates at the pathotype level.
Case presentation of a 14-year-old female presenting as unilateral breast enlargement and found to have a giant breast lipoma. The tumour was successfully excised with the result that the presumed unilateral breast enlargement reverting back to normal. A review of management including a photo of the removed Giant Lipoma is presented.
Pharmacotherapy of Asthma and Chronic Obstructive Pulmonary Disease (COPD)HRITHIK DEY
This PowerPoint presentation provides an in-depth overview of the pharmacotherapy approaches for managing asthma and Chronic Obstructive Pulmonary Disease (COPD). It covers the pathophysiology of these respiratory conditions, the various classes of medications used, their mechanisms of action, indications, side effects, and the latest treatment guidelines. Designed for students, healthcare professionals, and anyone interested in respiratory pharmacology, this presentation offers a comprehensive understanding of current therapeutic strategies and advancements in the field.
Hemodialysis: Chapter 8, Complications During Hemodialysis, Part 2 - Dr.GawadNephroTube - Dr.Gawad
- Video recording of this lecture in English language: https://youtu.be/FHV_jNJUt3Y
- Video recording of this lecture in Arabic language: https://youtu.be/D5kYfTMFA8E
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
Hemodialysis: Chapter 8, Complications During Hemodialysis, Part 3 - Dr.GawadNephroTube - Dr.Gawad
- Video recording of this lecture in English language: https://youtu.be/pCU7Plqbo-E
- Video recording of this lecture in Arabic language: https://youtu.be/kbDs1uaeyyo
- Link to download the book free: https://nephrotube.blogspot.com/p/nephrotube-nephrology-books.html
- Link to NephroTube website: www.NephroTube.com
- Link to NephroTube social media accounts: https://nephrotube.blogspot.com/p/join-nephrotube-on-social-media.html
2. What is DTC Testing?
Direct to Consumer (DTC) genetic tests are advertised and sold directly to the
public.
Offers information that many include ancestry, risks of developing certain
conditions, carrier status for some autosomal recessive diseases, predicted
drug response, and non-disease phenotypic traits such as eye color.
DTC tests are not diagnostic and offers risk information for only a limited set
of conditions.
3. Who offers DTC Testing?
Family Tree DNA
My Heritage
23andMe
Ancestry
Mayo Clinic GeneGuide
Color
4. DTC Power
DTC testing may promote awareness of genetic diseases.
It may provide you with personalized information about your health, disease
risk, and other traits.
This testing may allow consumers to take a more proactive role in their
health care.
Offers a means for people to learn about their ancestral origins.
It does not require approval from an insurance company or a healthcare
provider.
Results are available relatively quickly.
Your data is added to a large database that may be used to further medical
research. Depending on the company, the database may represent up to
several million participants.
5. DTC Limitations
Unexpected information that you receive about your health, family relationships,
or ancestry may be stressful or upsetting. For example, one may learn of non-
paternity or that they are adopted.
People may make important decisions about disease treatment or prevention
based on inaccurate, incomplete or misunderstood information from their tests
results.
There is currently little oversight or regulation of testing companies.
Unproven or invalid tests can be misleading. There may not be enough scientific
evidence to link a particular genetic variation with a given disease or trait.
Genetic privacy may be compromised if testing companies use your genetic
information in an unauthorized way or if your data is stolen. For example, the
company may sell your data to corporations, research groups or may work with law
enforcement.
The results of genetic testing may impact your ability to obtain life, disability or
long-term care insurance.
6. DTC Limitations cont…
In the US, the FDA restricts DTC testing companies from offering products that
function as diagnostic tests.
In April 2017 FDA authorized 23andMe to market genetic HEALTH RISK tests for 10
specific multifactorial conditions (Parkinson disease, Alzheimer disease, celiac
disease, alpha-1-antitrypsin, early-onset primary dystonia, factor XI deficiency,
Gaucher type I, glucose-6-phosphate dehydrogenase def’y, hereditary
hemochromatosis, hereditary thrombophilia.
The risk assessment of these 10 diseases is based on the presence or absence of a
limited list of genetic variants in the sample, which are statistically higher in
affected vs healthy cohorts but not necessarily causal of the conditions because
additional environmental and lifestyle factors affect risk.
None of the genes associated with these conditions are comprehensively
sequenced or analyzed in DTC tests NOR do the tests include all of the genes that
have been associated with these conditions.
7. Example of DTC Gene Risk Analysis
23andMe’s genetic health risk test for Parkinson disease reports on
just ONE variant in each of two genes, LRRK2 and GBA, linked to this
disorder.
There are additional known pathogenic variants in these two genes
They do not report out on other genes known to be linked to Parkinson
disease such as SNCA and PARK2/PARKIN.
The consumer is not provided with a comprehensive genetic risk
assessment.
In contrast, diagnostic tests are comprehensive with analysis of the
full coding sequences of all genes associated with that disease and the
results are used by the provider to guide disease management or
surveillance.
8. Raw Data Analysis
Although the FDA prohibits most DTC companies from offering diagnostic
genetic tests, some companies provide their raw genotyping data if
requested.
Patients can access interpretation services for their raw genotyping data
through fee-for-service third party companies.
A study in 2017 reviewing third party companies found they operate by
querying publicly available databases, despite reports that the majority of
classifications in some of these databases is incorrect resulting in, for
example, the interpretation of single nucleotide polymorphisms as pathogenic
when they may be VUS, likely benign variants, and benign polymorphisms. In
addition, these companies are providing information to the consumer with the
assumption that these variants in the raw data they are interpreting are
actually true abnormalities in the first place and not false positives. Badalato et
al. Eur J Hum Genet 2017;25:1189-1194
9. 23andme Statement on Testing Clinical
Utility
They made the following statement regarding the clinical
utility of their DTC testing:
“The test is not intended to tell you anything about your current state of
health, or to be used to make medical decisions, including whether or
not you should take a medication, how much of a medication you should
take, or determine any treatment… These carrier reports are not
intended to tell you anything about your risk for developing a disease in
the future, the health of your fetus, or your newborn child’s risk of
developing a particular disease later in life.”
10. Ambry Genetics DTC Testing Study – Tandy-
Connor, et al; Genetics in Medicine;2018;20(12):1515-1521
Analyzed variants previously identified by DTC testing and raw data analysis
in 49 patients between January 2014 and December 2016.
91.8% of patients were female; 73.5% unaffected by disease; 53.1% aged 30-
49 years.
In 44.9% of cases, single-site analysis was ordered to confirm DTC raw data
findings; 87.8% was testing of cancer genes,8.2% in CF genes, and 2% each in
connective tissue disorders and Familial Mediterranean Fever genes.
Overall, 60% of the variants were confirmed while 40% were false positives,
the latter most commonly found in the breast cancer BRCA1/2 genes.
Misclassification of variants by the third party interpretation service, some of
which were variants found in the general population at frequencies too high
to be associated with disease (one BRCA2 gene variant is found in about 25%
of the general population).
11. Lessons Learned
Alarmingly high false positive rate
High incidence of discrepant classification/misinterpretation of variants
coming from DTC companies and/or third-party interpretation services.
It is critical that clinical confirmatory testing be performed on any variants
reported in the raw data provided by a DTC company prior to any changes in
medical management to confirm the presence of that variant in the individual
as well as an accurate classification.
Many DTC genetic tests do not include comprehensive gene analysis.
Genetic testing needs to be interpreted by a qualified health-care
professional in the context of several other factors to include personal and
family medical history.
12. My Biggest Concern
The Ambry study data was generated on 49
patients whose providers knew enough to
refer for additional testing. How many
people are out there with false positive data
making poor decisions for themselves and
their families based on inaccurate
information?
13. American Society of Human Genetics
Statement on DTC Testing
“Because of the fragmented regulatory environment for genetic testing in general,
there is concern that the quality of the tests offered DTC may be inadequate. For a
test to be of good quality, the laboratory performing it must be able to obtain the
correct answer reliably, meaning that it detects a particular genetic variant when it is
present and does not detect the variant when it is absent. A test’s accuracy is
referred to as “analytic validity”. Further, there must be adequate scientific evidence
to support the correlation between the genetic variant and a particular health
condition or risk – the so-called clinical validity.”
“Claims made regarding DTC genetic tests may is some cases be exaggerated or
unsupported by scientific evidence. Exaggerated or unsupported claims may lead
consumers to get tested inappropriately or to have false expectations regarding the
benefits of testing. Further, consumers may make unwarranted, and even
irrevocable, decisions on the basis of test results and associated information, such as
the decision to terminate a pregnancy, to forgo needed treatment, or to pursue
unproven therapies.”
14. American College of Medical Genetics
Comment on DTC Testing
“Due to the complexities of genetic testing and
counseling, the self-ordering of genetic tests by
patients over the telephone or the Internet, and
their use of genetic “home testing” kits, is
potentially harmful. Potential harms include
inappropriate test utilization, misinterpretation of
test results, lack of necessary follow-up, and other
adverse consequences.”
15. NIH Concerns for DTC Testing
Statement from the National Institutes of Health (NIH):
“DTC genetic testing may promote awareness of genetic diseases, allow
consumers to take a more proactive role in their health care, and offer a means for
people to learn abut their ancestral origins.” However, “consumers are vulnerable
to being misled by the results of unproven or invalid tests” and “may make
important decisions about treatment or prevention based on inaccurate, incomplete
or misunderstood information about their health.”
16. Federal Concerns for DTC Testing
On November 28, 2017, Senator Chuck Shumer called on the Federal Trade Commission
(FTC) to regulate consumer DNA testing
Schumer cautions that these test kits put consumer privacy at risk because DNA firms could
potentially sell personal and genetic information. Now Schumer is calling on the Federal Trade
Commission to investigate and ensure that the privacy policies are clear, transparent, and fair
to consumers, according to a statement released by Schumer’s office.
“When it comes to protecting consumers’ privacy from at-home DNA test kit services, the
federal government is behind,” Schumer said. “Besides, putting your most personal genetic
information in the hands of third parties for their exclusive use raises a lot of concerns, from the
potential for discrimination by employers all the way to health insurance. That's why I am asking
the Federal Trade Commission to take a serious look at this relatively new kind of service and
ensure that these companies have clear, fair privacy policies and standards for all kinds of at-
home DNA test kits. We don't want to impede research but we also don't want to empower
those looking to make a fast buck or an unfair judgement off your genetic information. We can
find the right balance here, and we must.” Ref Mobihealth News