Precision Medicine and the Reinvention of Human Disease (not just about genes)
If everything you know about Precision Medicine comes from the lay press, you may have an unrealistic notion of what ' s happening in this field. The news seems to stress the one gene-> one disease paradigm that is easy to understand, but largely irrelevant to all the common diseases that occur in humans.The one gene-> one disease paradigm is this: the clinical expression of each disease is caused by a genetic mutation in a particular gene responsible for that particular disease, or a particular subtype of a disease, in a particular individual. By finding and targeting the gene responsible for an individual ' s disease, Pr...
Source: Specified Life - February 1, 2018 Category: Information Technology Tags: common diseases complex diseases disease biology monogenic pathogenetic precision medicine rare diseases Source Type: blogs

Shutdown of Claritas Genomics Comes as a Surprise to Lab Community
The recent shutdown ofClaritas Genomics came as a surprise to many lab professionals with some reports making reference to the possibility that inadequate reimbursement for genetic testing may have been the root cause (see:Sudden Shutdown of Claritas Genomics After Five Years as A Leading Source of Pediatric Genetic Testing..) Below is an excerpt from the article:[The shutdown of Claritas may be] the latest market sign of how health insurers are making it difficult for labs to get paid for proprietary molecular diagnostic assays and genetic tests....Claritas was like other genetic testing laboratories... ...
Source: Lab Soft News - January 31, 2018 Category: Laboratory Medicine Authors: Bruce Friedman Tags: Clinical Lab Industry News Clinical Lab Testing Food and Drug Administration Genomic Testing Lab Industry Trends Lab Regulation Medical Consumerism Medical Research Public Health Source Type: blogs

Drug May Help Those with Dementia with Lewy Bodies
New help may be on the way for people with dementia with Lewy bodies, which is the second most common neurodegenerative type of dementia after Alzheimer ’s disease.by Alzheimer's Reading RoomThe disease can cause movement problems and issues such ashallucinations in addition to thinking and memory problems. But the drug used to treat the movement problems can also exacerbate the hallucinations, delusions and other psychiatric problems.Lewy Body Dementia is not a rare disease.It affects an estimated 1.4 million individuals and their families in the United States. Because LBD symptoms can closely resemble other more c...
Source: Alzheimer's Reading Room, The - January 29, 2018 Category: Neurology Tags: health LBD lewy bodies Lewy Body Dementia life news Parkinson ’s drug treatment Source Type: blogs

UK strategy for rare diseases: implementation plan for England
Department of Health and Social Care (DHSC) - This implementation plan sets out the actions that the DHSC and partner organisations will take to implement the commitments under the 2013 UK strategy for rare diseases. The accompanying glossary defines commonly used terms in the field of rare diseases.PlanGlossaryDHSC publications (Source: Health Management Specialist Library)
Source: Health Management Specialist Library - January 29, 2018 Category: UK Health Authors: The King ' s Fund Information & Knowledge Service Tags: Commissioning Source Type: blogs

Precision Medicine and the Reinvention of Human Disease (from Preface)
Something has happened in the past two decades that has changed the way that modern biomedical scientist thinks about diseases. Because the changes in our perceptions have happened slowly, few of us have really taken notice of what it all means. The purpose of my latest book,Precision Medicine and the Reinvention of Human Disease, published January, 2018, is to show how advances in the field of Precision Medicine will forever change the way we understand and treat disease. Specifically, these advances are:Diseases develop in steps. Modern methodology has enabled us to dissect the biological events and metabolic pathways th...
Source: Specified Life - January 26, 2018 Category: Information Technology Tags: pathogenesis precision medicine rare diseases subtypes Source Type: blogs

Precision Medicine and the Reinvention of Human Disease (The Myth)
If you believe the hype, we are entering a new era of medicine in which each individual will receive unique treatment, determined by the sequence of his or her genome. This widely promulgated notion is simply ridiculous. There is no practical way to develop a unique treatment, test the treatment for safety and effectiveness, and titrate the correct dose, all for one person.The terms " Precision Medicine " and " Personalized Medicine " have given us the false impression that medical science is moving away from off-the-rack remedies and is seeking treatments tailored to the individual. In actuality, science has always been a...
Source: Specified Life - January 25, 2018 Category: Information Technology Tags: complex diseases jules berman Ph.D. jules j berman M.D. precision medicine precision treatment subsets of common diseases Source Type: blogs

Announcement: Precision Medicine and the Reinvention of Human Disease
In January, 2018, Academic Press is publishing my latest book,Precision Medicine and the Reinvention of Human DiseaseHere is the book description, from the back cover:Despite what you may have read in the popular press and in social media, Precision Medicine is not devoted to finding unique treatments for individuals, based on analyzing their DNA. To the contrary, the goal of Precision Medicine is to find general treatments that are highly effective for large numbers of individuals who fall into precisely diagnosed groups.We now know that every disease develops over time, through a sequence of defined biological steps, and...
Source: Specified Life - January 22, 2018 Category: Information Technology Tags: book announcement carcinogenesis causality classification of disease genomics jules j berman pathogenesis precision medicine Source Type: blogs

My descent into guideline fatigue syndrome (GFS)
It started slowly.  My former resident and present colleague, Terry Shaneyfelt first authored Are Guidelines Following Guidelines? The Methodological Quality of Clinical Practice Guidelines in the Peer-Reviewed Medical Literature This paper alerted us to the problem.  But guideline fever continued to rage.  Almost every specialty and subspecialty society decided that they needed to join the guideline movement.  They needed to tell us the RIGHT way to practice medicine. While I understood the problems of guidelines (I had found a 40 page guideline on cerumen), it had not yet become visceral.  Then the great pharyngitis...
Source: DB's Medical Rants - December 25, 2017 Category: Internal Medicine Authors: rcentor Tags: Medical Rants Source Type: blogs

Medical education must be patient-centered
“I know you think your organization is patient-centered … but it really isn’t.” The statement from a rare disease foundation president to a room full of industry partners stung as we observed a candid but cordial exchange about what “patient-centered” has come to mean in today’s health industry world. Everyone knew what they were hearing was right. Rewind a few days to the CBI Independent Medical Education and Grants Breakthrough Summit, where we were excited to share insights on patient education on one of their panels: The Multifaceted Value of Partnering with Patient Advocacy Groups in CME. It’s a topic ...
Source: Kevin, M.D. - Medical Weblog - November 27, 2017 Category: General Medicine Authors: < a href="https://www.kevinmd.com/blog/post-author/christian-rubio" rel="tag" > Christian Rubio < /a > Tags: Education Medical school Patients Source Type: blogs

Lower Levels of PPAR- γ Slow Thymic Atrophy with Age, Improve Immune Function
Researchers here demonstrate that mice with lower levels of PPAR-γ exhibited reduced atrophy of the thymus with age, and as a consequence also exhibit improved measures of immune function. The thymus is where T cells mature in the final stages of their creation before being released to duties in the body. Unfortunately it has evolved to atrophy, its active tissue replaced with fat tissue. This initially occurs immediately following childhood in a process called thymic involution, and then the remaining functional thymic tissue steadily declines over the course of later life. This places an ever-lower limit on the supply o...
Source: Fight Aging! - November 24, 2017 Category: Research Authors: Reason Tags: Daily News Source Type: blogs

Right to Know: Why the FDA Should Not Be Cut Out of Expanded Access Requests
By CHAPMAN, KLEIN and McFADYEN Over the past three years, the libertarian Goldwater Institute–led right to try (RTT) movement has had wind in its sails, propelling the passage of RTT laws in 38 states and counting. The movement, which aims to cut the FDA out of the process by which patients with serious or immediately life-threatening diseases without available therapies access investigational drugs and biologics, hit some choppier waters at the hearing held October 3rd by the Health Subcommittee of the House Energy & Commerce Committee. The House is considering passage of a federal RTT bill, and two potential option...
Source: The Health Care Blog - November 6, 2017 Category: Consumer Health News Authors: John Irvine Tags: Uncategorized Source Type: blogs

The Future of Vision and Eye Care
3D printed digital contact lenses, bionic eye implants, augmented reality eye condition explainers: the future of vision and eye care are full of science fiction-sounding innovations. Here is where digital health will take ophthalmology in the future! More than 80 percent of perception comes through vision Researchers estimate that 80-85 percent of our perception, learning, cognition, and activities are mediated through vision. Compared to that, our hearing only processes 11 percent of information, while smell 3.5 percent, touch 1.5 percent and taste 1 percent. Don’t you think that’s possible? Renowned scholars, ...
Source: The Medical Futurist - October 26, 2017 Category: Information Technology Authors: nora Tags: Augmentation in Medicine Cyborgization Medical Augmented Reality 3d printing AI diabetes digital digital health eye care future guide Healthcare Innovation ophthalmology Personalized medicine technology vision Source Type: blogs

The challenge of “ evidence based ” sore throat guidelines
CONCLUSION Although the evidence for the management of acute sore throat is easily available, national guidelines are different with regard to the choice of evidence and the interpretation for clinical practice. Also a transparent and standardized guideline development method is lacking. These findings are important in the context of appropriate antibiotic use, the problem of growing antimicrobial resistance, and costs for the community. We assume that the word “evidence” is all inclusive.  How can 9 guidelines on one subject differ significantly?  The first problem occurs in selecting the evidence.  Like ...
Source: DB's Medical Rants - October 23, 2017 Category: Internal Medicine Authors: rcentor Tags: Medical Rants Source Type: blogs

Report Examines CME Preferences and Habits of Medical Education Teams
Life science teams employ several different types of independent medical education providers. These providers include dedicated third parties, hospitals, professional medical societies and academic institutions. Several factors such as corporate goals, public perception, drug program type and cost influence the CME provider decision. Over three-fourths of surveyed global medical affairs teams consider dedicated continuing medical education (CME) providers as their first choice when funding CME programs, according to a recent survey done by Cutting Edge Information. The data found that apart from dedicated CME provid...
Source: Policy and Medicine - September 26, 2017 Category: American Health Authors: Thomas Sullivan - Policy & Medicine Writing Staff Source Type: blogs

The Best Positioned Tech Giant in Healthcare Today? The Answer May Surprise You.
By DAVID SHAYWITZ, MD When you think about tech giants playing in healthcare, you think of Google and the work Verily is doing; you think of Apple and their HealthKit and ResearchKit applications, as well as their rumored plans to organize all your medical data on your iPhone; you may even think of Amazon and their potential entry into the pharmacy market. But the name you may hear about least–Facebook–may actually be the company influencing healthcare the most, and may also be the best positioned to support the patient-centered future that so many imagine and that Eric Topol described in The Patient Will ...
Source: The Health Care Blog - September 7, 2017 Category: Consumer Health News Authors: John Irvine Tags: Tech Uncategorized Facebook Health IT Organ Donor Zuckerberg Source Type: blogs