The lowly appendix may play a surprising role in the development of Parkinson’s disease - Los Angeles Times

 The appendix has long been dismissed as an organ that has outlived its usefulness in human evolution. But new research suggests it may play an active — and detrimental — role in the development of Parkinson’s disease.

Healthy appendixes contain alpha-synuclein (shown in red), a protein that is a constituent of the Lewy bodies observed in Parkinson's disease. (B.A. Killinger et al. / Science Translational Medicine)

The appendix has long been dismissed as an organ that has outlived its usefulness in human evolution. But new research suggests it may play an active — and detrimental — role in the development of Parkinson’s disease.

In a finding that extends the link between gut and brain health in a surprising new direction, scientists found that people who had their appendix removed were 20% less likely to develop the neurodegenerative disorder than people who did not have appendectomies.

What’s more, surgical removal of the appendix seemed to forestall the appearance of Parkinson’s symptoms, which include tremors, movement difficulties and signs of dementia. Among older patients in whom Parkinson’s disease was eventually diagnosed, those who’d had their appendix removed experienced their first symptoms 3.6 years later, on average.

Dr. Viviane Labrie - Appendix identified as a potential starting point for Parkinson’s disease

Aggregated alpha-Synuclein is visible in the neurons of the appendix. (Van Andel Research Institute)

The lowly appendix may play a surprising role in the development of Parkinson’s disease - Los Angeles Times:

How Good a Doctor Are You?

Are you in a quandry how to select your doctors?  Should you rely on your insurance company's list of providers?  Do internet websites such as healthgrades provide useful or credible information?  What about those "Best Doctors in America" or your local version of the same.  How about those fancy shiny magazines in your own . doctors reception area?  Did you know that those listing are purchased, and should only be considered as self-serving advertisements. What about celebrity endorsements ?

This opens a 'can of worms'.

Besides political news and gossip healthcare also is a prime topic for print and news media. It affects all of us.  At least in politics one gets to vote.  This is not true of health care.  The old fashioned way of choosing you doctor was by a personal referral.  Today that method is used far less.  The majority of new patients select a doctor from the provider list of their insurance plan.

"Every physician strives to do their best for patients, but are we doing enough? Currently, there is no way to truly know how our outcomes compare with others, which also makes it impossible to know if we are “up to standard.” Implementation has begun on systems that measure individual physician outcomes and then base reimbursement upon them; such systems are a desirable replacement for fee-for-service because they could reduce unneeded care and improve the care that is delivered – but the devil is in the details…

Current methods do not truly assess our success as doctors. Detailed case-by-case oversight only occurs when there is an accusation of malpractice or negligence, and although devastating complications are sometimes reviewed at morbidity and mortality conferences, these do not measure routine care. Infrequent board exams might test a minimum standard of knowledge, but they cannot measure its application in daily practice. And although self-described Centers of Excellence may publish case series with success and complication rates, reports of general results in the wider community are rare.

The overall upshot? When selecting a surgeon for ourselves or a family member, it’s very difficult to objectively determine who is best – or even who is adequate. Online voting polls and magazines listing “Top” doctors receive much attention (mostly in advertisements for those voted highest), but are based on subjective responses from unknown respondents. One popular assumption is that a doctor who frequently performs a certain procedure or frequently treats a specific condition must be better than one who seldom does – and there is considerable evidence that this is correct. (1). However, the fact that surgery rates for a procedure vary dramatically by region of the country suggests that more surgery may not be better for patients (2). More research would be helpful to study the need for surgery and its quality, including its effect on patient quality of life (QoL).

There are many reasons why doctors and patients should favor standardized, publically available data on medical outcomes. For physicians, such data can improve the overall quality of care because it could help identify the methods that are most successful. For patients, it could provide reassurance that their medical team is competent.

The challenge is to develop outcome criteria that represent objective, quantifiable, and valid measures of the results of care. With the advent of electronic medical records (EMR) and national databases generated for billing purposes, some initial attempts have been made to do this. Unfortunately, the big databases that are available are not designed to assess outcomes, but rather to mimic paper charts and to record details for billing purposes. From them, one can determine how often tests, exams, or procedures were performed – but not whether they were appropriate, interpreted correctly, or had a reasonable outcome. The outcomes reported so far have been “process measures” – how many have you done?  These data have been compared with Preferred Practice Patterns of national organizations, which are generated by consensus, but rarely validated by prospective studies. As big database studies can derive provocative findings – for example, the recent report that fewer elderly hospitalized patients die under the care of female internists than male internists (3) – prospective validation is vital for such work.  If one does a google search for PPP (preferred practice patterns you will not find much except for Ophthalmology and Physical Therapy. In any case these patterns are set by the National organization for each specialty.  The reasons are that medicine evolves and patterns change sometimes very quickly.  Most specialty organizations are loath to list them since they  could be comprehended as 'facts, set in stone'

Inexperience attorney often refer to patterns as legal documents, for which they are not.

To use a specific example, consider how to assess the quality of care provided to a glaucoma patient. It is fashionable to propose that the best measure of outcome is the patient’s perspective, because patient-oriented outcomes are not routinely captured in clinical measures (acuity, visual field tests etc.). However, although QoL questionnaires theoretically measure the patient’s viewpoint, individual expectations and mental state can affect the correlation between clinical measures and reported QoL: the more depressed a person is, the worse they rate their visual function – even when it is normal. Furthermore, because diseases such as glaucoma have minimal disease-related symptomatology until late in their course, the inevitable side effects of standard eye drop treatment – even when performed perfectly in accord with recommended practice – might lead patients to conclude (legitimately) that their quality of vision or life is either no better or even worse after treatment. How many of us can think forward 10 years to what would have occurred had such treatment not been given?

Currently, well-validated QoL questionnaires are not included in commercial EMRs. Medicare may have implemented post-visit questions for patients, but these deal in the “experience” during a visit (“how quickly were you seen?” or “did the staff treat you well?”). And though these may maximize service quality, they do not assess medical outcome. For instance, a 2012 Archives of Internal Medicine report demonstrated that respondents in the highest patient satisfaction quartile had a higher likelihood of hospital admission, greater expenditures, and higher mortality (4). And there may be other negative consequences – one possible contributing factor (among many) for the current opioid epidemic could be Joint Accreditation reviews that emphasized patient reports of inadequate pain relief (5).

“The healthcare system has never really stressed the things that are important to patients.”

Instead of QoL questionnaires, what standard clinical measures would be good benchmarks? Visual acuity after cataract surgery? Visual field progression rate for glaucoma? These exist in EMRs, but they may conflict with the patient’s view of their desired outcome. Patients who want uncorrected distance vision and need glasses after IOL implants are unhappy with uncorrected 20/20, just as few glaucoma patients appreciate that the dramatic slowing of field worsening with successful therapy is “better” than their natural course. To select a field criterion for glaucoma patients we need to know the rate of slowing that is compatible with best present outcome. It may not be “no” worsening, but an “acceptable” rate, adjusted by the distribution of case severity and patient demographics. If knowledge of physicians’ ranking is effective, it could produce a shift toward better overall outcomes, as in the cardiac surgery example mentioned above.

There has been a rush to produce outcome measures that are “practical” – data easily gleaned from the EMR. One such “quality measure” recently suggested was a particular IOP lowering after laser angle treatment for glaucoma… Compared with recently published data, the particular success criterion selected (from one 20-year-old clinical trial) is far too strict. Rather than picking immediate standards that later must be amended, studies are needed to estimate reasonable outcomes based on data from a variety of practice settings.

In my view, the healthcare system has never really stressed the things that are important to patients, and we need to develop methods to accurately benchmark if we are doing a good job for our patients. It is past the time when we can act as if someone else will make this transition meaningful – we all need to be productively involved."

By Harry Quigley, A. Edward Maumenee Professor of Ophthalmology, Wilmer Eye Institute, Johns Hopkins University .  The author reports no conflicts of interest relevant to the content of this article.

How Good a Doctor Are You?: Your income may depend on it… but we have no real way to measure what actually matters to patients.

Trump administration gives insurers power to lower Medicare drug prices

Insurers participating in Medicare Advantage will be able to negotiate directly with drugmakers in an effort to lower the cost of prescription medications under a new policy announced by the Trump administration.

The policy aims to allow Medicare Advantage plans access to the same tools as private insurers to try to lower the costs of treatments delivered in a physician's office or hospital under Medicare Part B.

The change will impact more than 20 million people enrolled in Medicare Advantage plans. In 2017, Medicare Advantage plans spent $11.9 billion on Medicare Part B drugs, according to the Centers for Medicare and Medicaid Services (CMS).

Administration officials said the new policy will help increase competition and help lower the price of prescription drugs. It’s a key part of President Trump’s blueprint to lower drug costs, which he released in May.

“By allowing Medicare Advantage plans to negotiate for physician-administered drugs like private-sector insurers already do, we can drive down prices for some of the most expensive drugs seniors use,” Health and Human Services Secretary Alex Azar said in a Tuesday statement.

Government programs often pay higher prices than necessary for drugs because they lack the tools needed to negotiate discounts, HHS said in a fact sheet. For many physician-administered drugs covered by Medicare Part B, private insurance plans negotiate discounts of 15 to 20 percent or more, while Medicare essentially pays full price.

Under the new guidance, health plans will be able to require patients try cheaper drugs first, and will cover more expensive ones only if necessary — a process called step therapy.

According to CMS Administrator Seema Verma, this can create leverage for insurers to push for higher rebates from manufacturers in exchange for not steering patients to cheaper treatments from rival companies.  

Plans will be allowed only to apply step therapy to new prescriptions, not to people who already use the drug. Patients will also be able to ask their plan for an exception if they feel they need access to a specific drug.    

Plans will be required to pass on to patients more than half of the savings generated from the negotiations. Patients can receive benefits in the form of gift cards and other rewards programs, Verma said.

TAGS DONALD TRUMP MEDICARE NEGOTIATING DRUG PRICES

https://thehill.com/policy/healthcare/400808-trump-administration-gives-insurers-power-to-lower-medicare-drug-prices?utm_source=Galen+Email+Alerts+%26+AHC&utm_campaign=e63708b7ba-EMAIL_CAMPAIGN_2018_08_10_15_25&utm_medium=email&utm_term=0_93ad194d45-e63708b7ba-171570337&mc_cid=e63708b7ba&mc_eid=9b2d81fde3

Americans are brainwashed about Universal Care, which is not the same as socialized medicine.

He moved to New Zealand.

I am an American. In 1998 my 44 yo wife died of colon cancer after her medical insurance was not renewed because she was being treated for pre-existing condition. I lost everything to the disaster, decided I had had enough and got on a strangers sailboat at 48 yrs old. No plans just to have an adventure and clear my mind. We eventually wound up in New Zealand after sailing from Seattle to Panama. I am a clinical psychologist and children’s mental health hospital director, or was. I loved New Zealand and decided to see if could get work. I took a job as a teacher’s aide and the rest is history. Little did I know I had a serious medical condition that would kill me. in 1967 I left America because I was not going to become involved in the horrible Vietnam war. I went to Mexico and received my BA with honours. I wanted to be an anthropologist so I spend many months in Yucatan studying Mayan sites. While doing so I contracted malaria. Got over that and went on to run some wonderful programs in America. I passed my physical for residency here and life was good. in 2007 I began to get sick. That’s when I found out in a foreign country that I had terminal liver failure from the Malaria. New Zealand gave me, yes for free gave me a new liver. I paid nothing not even the 3 months my wife had to stay in Auckland while I recovered. Not a penny for travel or anything. In about 2014 I received a complete knee replacement again not cost whatsoever to me. I have had countless surgeries for skin cancer free of course.

Our tax responsibility is lower than America and my medical bills are free for life.

America you are being brainwashed. You could provide healthcare for everyone far easier than we can.

By the way, if anybody thinks countries like us have inferior doctors look up the Name “Dr. Ed Gane”. Do you know anybody that has or had Hepatitis C? Ed is my doctor. He discovered the cure for Hepatitis C. Wake up people our docs are as good and better than America. The treatment costs $85,000 in America. Here… yes totally free.

You are being sold down the drain for the gain of the rich.

My only regret leaving America is not leaving sooner.

BioNews Services – WE ARE RARE serving the rare disease community

BioNews Services is a leading online health, science and research publication company that exists for one purpose: to serve the patient living with a rare disease. We do this by connecting them with current, trusted, relevant news and information. Delivered daily.

A RARE APPROACH

BioNews Services’ unique, patient-focused model developed over years of testing and evolving as a biotech and health publisher. After coming to recognize the unmet needs that rare disease patient populations face online in accessing fresh, accurate, authoritative content on a daily basis, we switched from an industry-facing model to a patient-facing approach, launching niche, disease-specific news websites that cover one rare disease. By writing news and other digital content with only the patient and caregiver in mind, we are able to meaningfully connect with online patient communities on a daily basis.

For more information, please click below

BioNews Services – WE ARE RARE:

"Hey, Charlie" app supports those struggling with opioids A novel use of social media

 A smartphone app developed by MIT alumna Emily Lindemer uses social contacts and location information to give recovering opioid addicts gentle reminders about how to stay clean.

In the spring of 2016, while Emily Lindemer was working toward her PhD at MIT, she was also struggling with something closer to home: watching someone she knew well fall in and out of recovery from opioid addiction.

Like many people in recovery, Lindemer’s friend had his ups and downs. There were promising periods of sobriety followed by relapses into old habits. As the months went by, Lindemer began to see patterns.

For example, when he lost his driver's license — a common occurrence for people struggling with substance abuse who have run-ins with police — he had to call his friends to give him rides to work. If the friends he called for a lift were also people he used drugs with, Lindemer says, he’d relapse within a week.

“His relapses were predictable almost to a T, just based on the people he was associating with — who he was talking to, calling, texting, and hanging out with,” she says.

This realization turned out to be an inspiration. What if, she thought, there was a way to provide gentle moments of pause to people struggling with substance-abuse disorders? And what if those reminders could come through a smartphone application that monitors users’ contacts, location, and behaviors — and, using the information it gathers, offers encouragement when they are communicating with risky people or when they’re near a trigger area?

Lindemer, then a PhD student in the Harvard-MIT Health Sciences and Technology program, formed a team, which started thinking through the basics of what would become an app called Hey, Charlie. She knew of dozens of existing apps to help people in recovery. Some, like MySoberLife, offer simple lifestyle tracking services. Others, like reSET, are prescription-only and share patients’ responses to questionnaires with doctors. But none addressed the primary trigger Lindemer saw for relapses: social contacts.

Lindemer and her team participated in MIT Hacking Medicine, a worldwide event in which people have a short time to come up with solutions to health care-related problems. They emerged from that experience with sharper ideas, and with a clear sense that they would need funding and more advice. So Lindemer applied to the MIT Sandbox Innovation Fund, a program that provides seed funding for students’ ideas. The team received $25,000 and was connected to mentors with relevant experience. Lindemer and her team streamlined the application and designed a business model, and recently they ran a successful usability pilot.

The Hey, Charlie app works on several levels. When someone downloads it, it prompts them to enter general information about a few of their contacts, including questions that might prove helpful on the road to recovery, for example: “How often does this person express doubt about your ability to continue your recovery process?”

“They are objective questions, not subjective, and they aren't stigmatizing,” Lindemer says. “They do not ask the person in recovery to incriminate anybody. We try to figure out things like, is this a person that even knows that you are struggling with substance abuse disorder? Is this a person who contributes to stress levels in your life? Or is this the type of person who encourages your sobriety?”

The app also asks new users for a unique set of spatial information. Where are the areas of their city or region that could be triggers for users — locations where they bought drugs, or where their friends who use drugs are living? The app's users identify a particular point and then drag a wider circle depending on the size of the area. As they users go about their day, if they approach a place they have identified as risk-related, the app sends a notification: “Hey, I know you’re near a risky area. You can do this.”

Even when users aren’t engaged with the app, Hey, Charlie collects data on their activity and interactions — very, very securely, says Lindemer.

“Anything that gets sent into the cloud for Hey, Charlie is encrypted,” she says. “What we get is anonymized communication data. So we might know this user is talking to five unique risky people, but we have no idea who those risky people are, what their phone numbers are, or anything. It’s not the specific people and places that are necessarily important. It is the volume of communication with people that are helpful versus unhelpful.”

Christopher Shanaha, the director of Hey, Charlie’s recent usability pilot at Boston Medical Center and Mattapan Community Center says the app’s nudges can help patients stay engaged with their recovery when they’re outside of the clinic.

“As clinicians we only see patients in the clinic 15 or 20 minutes a week, and yet patients have to live 24 hours a day and deal with their addictions all of the time,” Shanahan says. “This is one small way to support our patients in those interim time periods.”

During the pilot, which tracked 24 people using the app over the course of the month, Shanahan says he was surprised at how enthusiastic the responses were — users felt positively toward the app and indicated they would use it again in the future.

Michael Barros, an advisor on Hey, Charlie’s user interface who has been in recovery for heroin addiction, told Lindemer that many treatment facilities are run using old methods that are often ineffective.

“One of the most interesting thing about Hey, Charlie is having PhDs like Emily working to bring some science into a part of medicine that is still running on pen, paper, and hunches about what worked for people in the past,” Barros says. “The data that can be collected with an app like Hey, Charlie is badly needed.”

contact . https://twitter.com/EmilyLindemer

"Hey, Charlie" app supports those struggling with opioids | MIT News:

Spurred By Convenience, Millennials Often Spurn The ‘Family Doctor’ Model

Calvin Brown doesn’t have a primary care doctor — and the peripatetic 23-year-old doesn’t want one.

Since his graduation last year from the University of San Diego, Brown has held a series of jobs that have taken him to several California cities. “As a young person in a nomadic state,” Brown said, he prefers finding a walk-in clinic on the rare occasions when he’s sick.

“The whole ‘going to the doctor’ phenomenon is something that’s fading away from our generation,” said Brown, who now lives in Daly City outside San Francisco. “It means getting in a car [and] going to a waiting room.” In his view, urgent care, which costs him about $40 per visit, is more convenient — “like speed dating. Services are rendered in a quick manner.”

Brown’s views appear to be shared by many millennials, the 83 million Americans born between 1981 and 1996 who constitute the nation’s biggest generation. Their preferences — for convenience, fast service, connectivity and price transparency — are upending the time-honored model of office-based primary care.

Many young adults are turning to a fast-growing constellation of alternatives: retail clinics carved out of drugstores or big-box retail outlets, free-standing urgent care centers that tout evening and weekend hours, and online telemedicine sites that offer virtual visits without having to leave home. Unlike doctors’ offices, where charges are often opaque and disclosed only after services are rendered, many clinics and telemedicine sites post their prices.

A national poll of 1,200 randomly selected adults conducted in July by the Kaiser Family Foundation for this story found that 26 percent said they did not have a primary care pr
ovider. There was a pronounced difference among age groups: 45 percent of 18- to 29-year-olds had no primary care provider, compared with 28 percent of those 30 to 49, 18 percent of those 50 to 64 and 12 percent age 65 and older. (Kaiser Health News is an editorially independent program of the foundation.)

A 2017 survey by the Employee Benefit Research Institute, a Washington think tank, and Greenwald and Associates yielded similar results: 33 percent of millennials did not have a regular doctor, compared with 15 percent of those age 50 to 64.

“There is a generational shift,” said Dr. Ateev Mehrotra, an internist and associate professor in the Department of Health Care Policy at Harvard Medical School. “These trends are more evident among millennials, but not unique to them. I think people’s expectations have changed. Convenience [is prized] in almost every aspect of our lives,” from shopping to online banking.

So is speed. Younger patients, Mehrotra noted, are unwilling to wait a few days to see a doctor for an acute problem, a situation that used to be routine. “Now,” Mehrotra said, “people say, ‘That’s crazy, why would I wait that long?'”

Until recently, the after-hours alternative to a doctor’s office for treatment of a strep throat or other acute problem was a hospital emergency room, which usually meant a long wait and a big bill.

Luring Millennials

For decades, primary care physicians have been the doctors with whom patients had the closest relationship, a bond that can last years. An internist, family physician, geriatrician or general practitioner traditionally served as a trusted adviser who coordinated care, ordered tests, helped sort out treatment options and made referrals to specialists.



http://tinyurl.com/ybtwkr3y


https://connect.kff.org/e2t/c/*W1SNQsm1jG20qW91vQ4G1N3psL0/*W2nv6CD2DJKGDW3vq6gf5GBkL30/5/f18dQhb0S1Wb2RwFJYVWnyLL4MzHh2N38Qp68bpHykW3H59mC2mBQdRW5MxkD36HCSc8W2r9dtM6PCpdRW8mBn2-1HQfDQN5r-PslFYzdzW9fcSJs4gJwntW1KxVJP5BBq4jW8tFbvZ1h4DQtW4FXRyX3vxSlQW2Bv3mg1Cjw8TW6KHbqt3CPQKcN7XrXgCl3jhYW15SPZm11XbW2W8yXJRT5xQC5mW71nCL94RvBQHW1srj402zqWKPW4BYkFY2ZkMyMN3V1tQJNrW_qW6h-fVD6rpG-qW74S9Zk4lZxz5W7hpMhY82ZH6TW8Wf07d3GKh7HW1Yb2zl2W1wQ6W3yRyn65nPz1HW8wMxBz4CC978W4L7sCn4P2_X2W1q5slW3KnJFyW1k6r0M1TT0dqN7-0nWvWPp5QW7N64r14kwd4xN3sp47kX17xnW6dSm_N18_NR-VG6Xxl2zYvBJW6lqrP06yqYwHW9kCQTF4YN_k0W8tz8kW2_lc3dW7ZGrct7Q4dPyW1BgGHF6qcg0yN12DqMkn1X6bW5wm-cG3QMM0VW875J0M56Mc5qW8rGlS57Ykn5FW3sqFL91-ZN4SW917hPD9m1JyQW1KLFWr5RK4YYW5RYmWb64phdlW6_lF_t3TftpLW55GllV8Xqyst111

Viagra no more: The changing face of drug ads on TV

What happened to those TV ads for Viagra and Cialis?

There's a reason the Trump administration wants to require drugmakers to include list prices in advertisements for prescription medicines on TV: It's where the money is.

In recent years, direct-to-consumer advertising has touted to consumers prescription medicines for relatively common ailments like high cholesterol or impotence. Think Lipitor (atorvastatin) or Viagra (sildenafil). While pharma has never liked the idea of price disclosure, the cost of drugs previously most familiar to the American public are nowhere near the cost of the most commonly advertised products today.

Patent expirations, along with the rise of specialty drugs and biologics, have shifted the line-up of drugs consumers are likely to see hawked on TV.

In 2018, a traditional 60-second spot is likely to come from one of a handful of large pharmas and feature a specialty medicine approved for sale in the past five years. Gone are the twin bathtubs and little blue pills, replaced instead with promotions for new psoriasis biologics and cancer drugs.

Spending, though, remains high. Through the first nine months of this year, pharma companies have spent more than $2.8 billion on TV drug ads, up from around $2.5 billion through the same time period last year, according to analytics firm iSpot.tv.

Here are five common themes among the top ranks of pharma TV advertising:

A handful of drugmakers account for the lion's share of drug ads on TV

In proposing to mandate inclusion of prices in drugs ads last week, the Department of Health and Human Services estimated its rule would affect roughly 25 drugmakers that air about 300 commercials a quarter.

Data from iSpot.tv, though, shows that the number of pharma companies putting up serious money on television drug ads is an even narrower group.

Spending by Pfizer, Eli Lilly, AbbVie and Bristol-Myers Squib, for example, represented about 40% of the $2.81 billion spent on TV drug ads through the first nine months of 2018, according to an analysis of iSpot.tv numbers

AbbVie's investment in promoting its blockbuster drug Humira (adalimumab) made up 8.5% of the total just by itself.

Top 5 spenders on TV drug ads, first nine months of 2018

Company	TV ad spending for top drugs	Drugs advertised	Number of ad spots
Pfizer	$481 million	Lyrica, Xeljanz, Ibrance and Eucrisa	24
Eli Lilly	$318 million	Trulicity, Jardiance, Taltz and Verzenio	15
AbbVie	$236 million	Humira	15
J&J	$113 million	Xarelto	4
Celgene	$104 million	Otezla	2

Note: Pfizer's figures above don't include Eliquis, which it co-promotes with Bristol-Myers Squibb SOURCE:Data from iSpot.tv

Viagra no more: The changing face of drug ads on TV | Healthcare Dive: Healthcare

The Food We Eat

Food is more than nourishment. It's a source of pleasure — and guilt — and an agent of change. This episode, TED speakers explore our deep connection to food, and where it's headed.

This, from NPR

 

TED Radio Hour : NPR

Follow along and learn how we arrived at this place in the foods we eat, where we are guided by economics and marketing, 

Sanofi Genzyme, PerkinElmer to offer no-cost DNA testing for lysosomal storage disorders

Sanofi Genzyme and PerkinElmer Genomics have launched a free genetic testing program that aims to spot certain undiagnosed lysosomal storage disorders, while raising awareness of the group of rare diseases whose symptoms may initially be ascribed to more common ailments.

The Lantern Project will provide no-cost comprehensive diagnostic services and DNA-based blood testing in the U.S., targeting the tens of thousands of people that the companies estimate go undiagnosed for years at a time—with the goal of getting patients on-treatment faster and creating a larger market for rare disease drugs.

The project will begin with screening for Gaucher, Fabry and Pompe disease, as well as mucopolysaccharidosis type I and acid sphingomyelinase deficiency, which also known as Niemann-Pick disease.

Some underlying lysosomal storage disorders can take over 10 years and as different physicians before a proper diagnosis, with symptoms presenting as common diseases. (Darwin Laganzon)

It will also offer an enzyme panel for seven mucopolysaccharidoses, and a 105-gene next-generation sequencing panel for limb-girdle muscular dystrophies and other myopathies, in addition to diseases that may cause similar symptoms such as Pompe disease and spinal muscular atrophy.

"While we have seen many significant advances in research over the past 30-plus years, there are still tremendous challenges in helping patients get a diagnosis for many rare diseases,” said Sarah Gonzalez, head of medical diagnostics at Sanofi Genzyme.

For example, proper diagnoses of Gaucher disease can take 10 years or more, while late-onset Pompe disease—with symptoms including impaired cough, difficulty swallowing and persistent chest infections—can take an average of 16 years from symptom onset to the patient seeking treatment, according to Sanofi Genzyme.

Lysosomal storage disorders are inherited diseases resulting from defects in the enzymes that govern metabolic processes, such as the breakdown of large molecules within cells. These waste molecules accumulate, disrupt cell function and can lead to progressive organ damage. They can be frequently misdiagnosed, with a range of symptoms and disease progression from early childhood to late adulthood.

RELATED: Enzyvant and PerkinElmer to develop gene test for ultrarare Farber disease

The two companies hope genetic testing can help confirm diagnoses and advance patients to treatment faster. Sanofi Genzyme’s investigational pipeline includes olipudase alfa, which has received a breakthrough designation in acid sphingomyelinase deficiency and is in a phase 2/3 trial—as well as venglustat, which is being studied in Gaucher, Fabry and Parkinson’s disease, in addition to autosomal dominant polycystic kidney disease. Sanofi Genzyme also received approval for Lumizyme in Pompe disease.

Meanwhile, PerkinElmer teamed up with Roivant Sciences’ rare disease arm Enzyvant, to develop a genetic test for Farber disease that has fewer than 100 confirmed cases worldwide, according to the National Institutes of Health. The test aims to create a wider market for Enzyvant’s enzyme replacement therapy currently in preclinical studies, RVT 801, a recombinant form of acid ceramidase.

Read More OnMedTech Sanofi Genzyme, PerkinElmer to offer no-cost DNA testing for lysosomal storage disorders

MedTech Sanofi Genzyme, PerkinElmer to offer no-cost DNA testing for lysosomal storage disorders

Breast Cancer Wariness: Half Pursued by Debt Collectors

Staggering news !

Nearly half of a sample of American patients with metastatic breast cancer reported being pursued by debt collectors, according to a financial survey reported last week at the American Society of Clinical Oncology (ASCO) Quality Care Symposium (QCS) in Phoenix, Arizona.

The 1054-patient survey included individuals from 41 states; 49% reported contact from debt collectors related to cancer treatment bills.

"We found a very high level of debt collection," lead author Stephanie Wheeler, PhD, MPH, of the University of North Carolina Lineberger Comprehensive Cancer Center in Chapel Hill, told Medscape Medical News.

This is a "staggering statistic on financial toxicity in cancer care," commented Nate Handley, MD, MBA, of the Kimmel Cancer Center at Jefferson University in Philadelphia, who attended the meeting and mentioned the study on Twitter.

The study participants were a mix of insured (n = 738) and uninsured (n = 316) patients.

Unsurprisingly, most of the uninsured patients (90%) were subject to debt collection. By contrast, only about one third of the insured patients were.

We found a very high level of debt collection. Dr Stephanie Wheeler

The survey did not explore the frequency of the collections contacts or the methods (eg, telephone calls, email, postal service). Wheeler explained: "Most of the time when debt collectors contact patients, they do it in multiple formats."

The survey also found that 54% of participants reported stopping or refusing treatment because of cost.

Unfortunately this is not confined to cancer patients. It is also common for many other chronic and potentially fatal outcomes.

Is there a possibility that medical debts should be excluded from collection methods.  Many physicians and/or hospitals will adjust off residual debt rather than pursuing debtors.

Alternative methods have been proposed for charitable organizations or groups to purchase debt for a markedly reduced amount, just as collection agencies purchase medical debt from providers and hospitals..

Should I pay a medical bill in collections?

Recent legislation has required FICO scores to be adjusted for medical debt.

FICO's new formula
FICO, the source of the score used by most lenders, said Thursday that it is rolling out a new formula called FICO Score 9. The new score will drop collection agency accounts that are paid off, whether paid in full or settled, FICO spokesman Anthony Sprauve said. It will also differentiate medical debt from other types of unpaid debt.

Under the new formula, the typical credit score of 711 should rise 25 points for people with medical debts but no other serious demerits on their credit record, Sprauve said. Of all accounts in collections, only about 10 percent are paid off, he said.

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Breast Cancer Wariness: 

Half Pursued by Debt CollectorsBreast Cancer Wariness: Half Pursued by Debt Collectors:  

Is it Physician burnout or Moral Injury ?

As an emergency physician and former Harvard faculty, Dr. Kevin Ban has always been fascinated with the connections that bind clinicians to their patients and to each other (and their community). We talk about restoring these connections in Health 3.0.

Go4Life | from the National Institute on Aging at NIH

Experts say that strength, endurance, and flexibility are the three factors for staying fit

How Exercise Helps                 

Sample Workouts: Getting Fit for Life

                                         

                                                                            

   
Go4Life | from the National Institute on Aging at NIH: Go4Life is the exercise and physical activity campaign from the National Institute on Aging at NIH. Find exercises to do, safety tips, and ways to be motivated!