Precision Medicine has some Dangers: Gene Therapy To Prevent Inherited Diseases May Cause Other Ills

Unexpected Risks Found In Editing Genes To Prevent Inherited Disorders

The genes in mitochondria, which are the powerhouses in human cells, 

can cause fatal inherited disease. 

But replacing the bad genes may cause other health problems.

Uknown to many is the fact that DNA is present not only in the nuclei of cells, but also in the cell's power generation organelle, the mitochondria. 

There the mitochondria generates it's power generating ATP and also contains DNA and RNA.  The hidden risk is that during meiosis and later fertilization of the female egg, the new zygote contains cytoplasm from the mother as well as nuclear DNA. The male sperm contains little, if any cytoplasm. 

 Thus the female contributes cellular mitochondria (containing DNA) to the fertilization.  So the new oocyte contains not only nuclear DNA formed by meiosis it also contains cellular DNA from mother.  Therein lies a new risk factor.

Some genetic diseases are caused by mutations or defects in mitochondrial DNA. 

There are several neuro-muscular diseases caused by mitochondrial defects.

In September, reproductive endocrinologist John Zhang and his team at the New Hope Fertility Center in New York City captured the world's attention when they announced the birth of a child to a mother carrying a fatal genetic defect.

Using a technique called mitochondrial replacement therapy, the researchers combined DNA from two women and one man to bypass the defect and produce a healthy baby boy — one with, quite literally, three genetic parents.

It was heralded as a stunning technological leap for in vitro fertilization, albeit one that the team was forced to perform in Mexico, because the technique has not been approved in the United States.

But for all the accolades, the method also has scientists concerned that the fatally flawed mitochondria can resurface to threaten a child's health.

Earlier this month, a study published in Nature by Shoukhrat Mitalipov, head of the Center for Embryonic Cell and Gene Therapy at the Oregon Health and Science University in Portland, suggested that in roughly 15 percent of cases, the mitochondrial replacement could fail and allow fatal defects to return, or even increase a child's vulnerability to new ailments.

Earlier this month, a study published in Nature by Shoukhrat Mitalipov, head of the Center for Embryonic Cell and Gene Therapy at the Oregon Health and Science University in Portland, suggested that in roughly 15 percent of cases, the mitochondrial replacement could fail and allow fatal defects to return, or even increase a child's vulnerability to new ailments.

"This study shows the potential as well as the risks of gene therapy in the germline," Mitalipov says. This is especially true of mitochondria, because its genomes are so different than the genomes in the nucleus of cells. Slight variations between mitochondrial genomes, he adds, "turn out to matter a great deal."

Gene Therapy To Prevent Inherited Diseases May Cause Other Ills : Shots - Health News : NPR

'Patient satisfaction ratings may do more harm than good' | Business Standard News

Contrary to the popular perception, subjective patient satisfaction ratings may actually lead to lower-quality care in some situations, according to new research. 

"Increasingly used as a measure of physician performance, patient satisfaction data can be flawed and not broadly applicable," said Terence Myckatyn of Washington University School of Medicine in the US.

Patient satisfaction is now among the quality of care indicators used in "pay for performance" programmes tying financial reimbursement under Medicare and the Affordable Care Act.

However, using patient satisfaction ratings in this way is having some unintended consequences, the researchers said.

For example, some hospitals are upgrading their physical facilities and adding luxury amenities, in an attempt to improve patient satisfaction scores.

"One could argue that these costly expenses have more to do with the perception of health-care quality rather than actual outcomes," Myckatyn said.

There are even anecdotal reports of doctors altering their medical judgement to improve patient satisfaction and minimise negative reviews - for example, prescribing antibiotics or strong pain medications to keep patients happy and move them quickly through the system.

"Behaviour motivated by patient satisfaction becomes especially dangerous when ratings are directly tied to compensation," researchers said.

This objective appraisal and reporting from an outside source may fall on deaf ears among the 'authorities' who set meaningless metric for measuring quality of care.  I know many patients who are being treated appropriately and who give their provider and/or hospital failing grades.

On the other hand we see more private rooms and more attention to non medical needs which contribute to a better sense of wellness which overall increases quality of life.

"The truth is that there is little high-level evidence to support that patient satisfaction surveys will provide Americans with improved medical outcomes, but there are plenty of contradictory data," said Myckatyn.

The research was published in the journal Plastic and Reconstructive Surgery.

(This story has not been edited by Business Standard staff and is auto-generated from a syndicated feed.)

"W 

'Patient satisfaction ratings may do more harm than good' | Business Standard

The Most Exciting Medical Technologies of 2017 - The Medical Futurist

2016 proved to be an exciting year for providers as well as patients.

2016 was a rich year for medical technology. Virtual Reality. Augmented Reality. Smart algorithms analysing wearable data. Amazing technologies arrived in our lives and on the market almost every day. And it will not stop in the coming year.

The top technologies with the biggest promise for 2017

1) A new era in diabetes care

2) Precision medicine in oncology

3) Narrow artificial intelligence in US clinics

4) Driverless trucks or cars will include health sensors

5) New service in nutrigenomics

6) SpaceX and NASA will realize they need a digital health masterplan to reach Mars

7) The genome editing method CRISPR in clinical trials

8) A big tech company will step into health

9) An insurance company launches a wearable sensor package

10) The surgical robot by Google and Johnson&Johnson will compete with daVinci

11) Vocal biomarkers: the future of diagnostic medicine

12) Pharma will start using massive AI in clinical trials and drug research

13) A company will make the 3D printed cast a real choice

These are all some amazing predictions.  Whether they prove to be successful or not will depend upon market demand, health care financing, and government approval. These medical technologies are in early development and implementation may be five years or more.

Don't plan on seeing these on your CVS or Rite Aid shelf soon.

The Most Exciting Medical Technologies of 2017 - The Medical Futurist

Hearing Tests Could Be Vital Concussion Indicator

A test that measures the brain’s response to speech could provide a new way to diagnose concussions and track patients’ progress toward recovery, a small study suggests.

Developed by researchers at Northwestern University, the test is meant to detect neural activity when patients are exposed to auditory stimuli. Since one of the common side effects of concussion is a compromised ability to make sense of sound, researchers believe a blow to the head temporarily disrupts the way the brain processes and hears speech.

Led by Nina Kraus, a professor and director of Northwestern’s Auditory Neuroscience Laboratory, scientists built a test using electrodes to measure the electrical signals generated in the brain. The team placed three electrodes on children’s scalps while the subjects listened to several minutes of various spoken sounds designed to assess their ability to understand speech and distinguish between certain sounds.

Researchers observed differences in neural response among children who suffered concussions in the past five to 56 days compared to children without concussions. Children with concussions had reduced reactions to the pitch of the recorded sounds than the control group. The test was able to correctly identify 18 out of 20 study participants with a concussion and 19 out of 20 healthy controls. As the children recovered from their head injuries, their ability to process pitch improved, the researchers reported.

One limitation of the study was that it did not measure participants’ baseline sound processing before a concussion, says Marc Nuwer, a clinical neurophysiologist and professor of neurology at UCLA School of Medicine. That would have helped determine whether the patterns in a subject’s auditory processing were different than normal. Nuwer says injuries other than concussions, medications, and fatigue can also affect the brain’s ability to process sound.

While the initial results are interesting, such a test may not be practical in a doctor’s office or in the field. The equipment needed to conduct the test—an electroencephalogram machine—is expensive, and the analysis of results is complicated.

Kraus says her team will be recruiting more study participants to try the test in a bigger population.

Traumatic brain injuries account for more than two million emergency room visits in the United States each year and contribute to the deaths of more than 50,000 Americans, according to the U.S. Centers for Disease Control and Prevention. A significant percentage of these injuries are considered to be mild ones, which include concussion. Currently, doctors rely on symptoms to diagnose concussions. Computerized tomography scans can rule out more serious brain injuries, but they can’t detect concussion.

Hearing Tests Could Be Vital Concussion Indicator

A letter to her physician husband

Dear Husband, MD

I see you. I hear you cough all night, knowing your flu vaccine has failed and you have it. I hear you wheeze with your post-flu pneumonia. I feel you shiver in the bed beside me while you sleep for 5 hours before you get back up and start getting ready for the next “shift.”

I put quotations around “shift” because we both know you will not work 8 admin or 12 clinical, but instead you will do your own personal gauntlet of a 16+ hour combo before heading home for a typical late evening and early morning of multiple texts and phone calls while you attempt to shove a cold supper down or dry off from a quick shower. Because they never leave you alone. Even on vacation, they still call.

I see you give up your dreams and desires to keep the ever growing census list seen, to continue to manipulate the schedule thru physician shortages, random locums, NP and PA providers who are all tired of picking up extra shifts to cover the empty spots. I see the management company that you were sold to like meat, keep asking for more and more with less and less, the hospital administrators asking what your plan is, as if you have any say.

I see you losing your soul. Your joy and wit replaced by bitterness and sarcasm. You race against the clock. You rage against quality and quantity and charts and graphs and core measures and planning meetings and follow-up meetings and why-can’t-you-just-do-it-all meetings.

I see you come home exhausted, attempt to do dishes or a load of laundry because, honestly, I’m losing hope too. I fear we will never get to finish this build onto the house, see our children happy and content in a stress-free home. I’ve lost hope that you will move away from this path that destroys you. There are no more interviews, no more recruiters calling, you have sent them all away to live in your comfortable misery because everywhere is the same and that this is what health care has become. And I know that you are right.

You never meant for this to happen. It just did. You wanted to help people, treat them, see them walk out of the hospital and go home to their families. Or, ease their transition into the next adventure, because you know we are all mortal. Yet here you are. Documentation and EHRs, and intake registry and profit margins and Facebook posts from former patients trashing your hospital and your team’s care because they have no idea how hard a tick-born/auto-immune/mental illness is to diagnose and they just want to feel better, while you stand before them with pneumonia, taking care of them.

They don’t see you researching and reading late into the night, worrying yourself and not sleeping, pouring over medical records of 20 other patients and keeping up with them all just to start over with 20 different ones the next day. They don’t see you code the elderly patient over and over that just needs to die with peace and dignity like any mortal soul should, and they don’t see you deal daily with the ones that abuse their bodies yet still demand miracles from you. They didn’t see you dedicate 23 years of your life and hundreds of thousands of dollars to educating yourself to where you are.

I see you. And I love you.

Charity Williams is a physician’s wife.

This is dedicated to the unseen, under appreciated and unrecognized partners in our lives as physicians

A letter to her physician husband

Trump’s Health Secretary Pick Leaves Nation’s Doctors Divided - The New York Times

When President-elect Donald J. Trump chose Representative Tom Price of Georgia to be his health and human services secretary, the American Medical Association swiftly endorsed the selection of one of its own, an orthopedic surgeon who has championed the role of physicians throughout his legislative career.

Then the larger world of doctors and nurses weighed in on the beliefs and record of Mr. Price, a suburban Atlanta Republican — and the split among caregivers, especially doctors, quickly grew sharp.

The controversy began soon after Mr. Trump announced on Nov. 29 that he had chosen Mr. Price to head the Department of Health and Human Services, which controls Medicare, Medicaid, the Affordable Care Act’s federal health insurance exchange, the National Institutes of Health, the Food and Drug Administration and the Centers for Disease Control and Prevention.

Within hours, the A.M.A. — the nation’s largest medical advocacy group, which has nearly 235,000 members and calls itself “the voice of the medical profession” — issued a statement saying it “strongly supports” the selection.

It noted Mr. Price’s experience as a doctor, a state legislator and a member of Congress. It praised, in particular, his support for “patient choice and market-based solutions” and his efforts to reduce “excessive regulatory burdens” on doctors.

The enthusiasm was understandable at one level: Mr. Price has been a member of the A.M.A. house of delegates since 2005 and was an alternate delegate for a decade before that, according to the A.M.A. and the Medical Association of Georgia.

“For those who are attacking Dr. Price, I have to ask whom you would rather have at the helm of H.H.S. — a career bureaucrat? A former governor who views doctors as a cost center to be controlled?” said Dr. Robert E. Hertzka of San Diego, an anesthesiologist and former president of the California Medical Association. “Tom Price may turn out to be the best friend that physicians and patients have ever had in that role.”

Many doctors are not willing to take that chance. More than 750 people who identify themselves as members of the A.M.A. signed a letter to the association’s board objecting to the endorsement.

Nurse Bytes # 10: Upcoming Doctor Shortage

Disturbing news.

The secret to happiness in America. A paradoxical realization

When she used to see an elderly woman on the street, hunched over, taking tentative little steps, Ashton Applewhite would say to anyone who'd listen, "put me out my misery if I ever get like that."

Today, that makes Applewhite, 63, cringe.

"I'm ashamed of thinking that now. Why assume she's miserable? My guess is that she's happy to be alive and out and about. Maybe she's going to meet her boyfriend. It's presumptuous to assume her quality of life sucks because her body has changed," said Applewhite, a writer and self-described "apprehensive boomer turned pro-aging radical."

Applewhite, whose book "This Chair Rocks: A Manifesto Against Ageism" was published March 15, is part of a growing national movement to redefine what it means to age in America.

Leaders in this field include Dr. Dilip Jeste, the director of UC San Diego's Center for Healthy Aging, and AARP Chief Executive Jo Ann Jenkins, whose new book "Disrupt Aging" - which challenges people to not only accept their age but embrace it - came out of a 2014 speech she gave to 10,000 AARP members in San Diego.

On Friday, Dr. Bill Thomas, a Harvard Medical School-educated geriatrician, will bring his so-called Age of Disruption Tour to San Diego's Joan B. Kroc Theatre, where he'll put on a presentation that's part concert, part lecture, part call to arms to revolutionize aging.

Age of Disruption Tour

Who: Dr. Bill Thomas, with musical guest Nate Silas Richardson

What: Afternoon workshop, "Disrupt Dementia," a session designed for people living with dementia and their caregivers; evening event, "Aging: Life's Most Dangerous Game," includes musical and theatrical performances

When: Friday, 2:30-4:30 p.m. and 7-8:30 p.m.

Where: Joan B. Kroc Theatre, 6611 University Ave., San Diego; (619) 269-1552

Tickets: $15 per session; drbillthomas.org/local/san-diego-ca/

It's no coincidence that these four aging advocates are members of the baby boom generation, a group that's rewritten the rules in its youth, middle age and now older years.

"The baby boom has changed every life stage they've been a part of," said Thomas, whose tour is making its way to 30 cities across the country.

"As this giant generation faces this life stage, they're going to say, ‘hey no, I don't like that.'"

Thomas divides boomers into three categories:

Those in denial who try to stay young forever with Botox injections, expensive creams and unproven "snake oil" hormones and remedies. "It's the current equivalent to ‘Hell no, we won't go!'"

The resigned, who munch on kale and flax seed while doing Sudoku puzzles. "They tell themselves, ‘It's going to be bad, but if I do these things it won't be so bad."

And the embracers. "I'm in a rare tribe who looks forward to it with enthusiasm. It's possible to look forward to something and know there are parts of the experience you'd like to avoid, that won't be pleasant. That's why I call (my talk) Aging: Life's Most Dangerous Game," he said.

Thomas likened how people approach old age to those who'd rather go on, say, a safe cruise versus climbing Machu Picchu.

"There are some who would say, ‘you know there could be rock slides,' and there's the adventure traveler who says, ‘yeah, but it's Machu Picchu!' They do it because they think the adventure is greater than the risk. Look, I'm not a silly person who says old age is great and nothing will happen. Something will happen. But people who have a great fear of aging are going against their own future self. They become a traitor by robbing themselves of future possibilities."

All of the experts interviewed for this story said society's view of old age - that it's solely a depressing period of physical and mental decline - isn't backed up by data, science and research.

"We internalize a lifetime of messages that the younger self is worth more than the older self," Applewhite said. "The older self is just different."

She began writing her book while in her 50s, when its original focus was on people in the workforce well into their 80s. Her reporting, as well as research on longevity, led her to "This Chair Rocks."

"What surprised me was how everything I thought I knew about aging was wrong," she said by phone from Brooklyn.

Applewhite cited statistics that show a minute portion of the elderly live in nursing homes, with about 95 percent of Americans living independently. And she noted that while memory will moderately falter for most, about 20 percent of older people experience no decline at all in memory.

"Things slow us down, but it doesn't keep the vast, vast majority of us from functioning just fine," she said. "The epidemic isn't dementia, it's the anxiety about dementia."

Applewhite and Thomas both referred to the U-Bend theory, which holds that people are happiest at the beginning of their lives and toward the end.

"Statistically, the happiest decade is the 70s," he said.

National movement seeks to redefine what it means to age in America - The San Diego Union-Tribune

Dissent roils the AMA, the nation's largest doctors group

As usual the media over-reacts to events. Such is the case regarding the AMAs ambivalent attitude toward the Affordable Care Act.  The AMA sees health care through it's own prism. There is no one in the organization, nor non members who do not support universal access to quality health care, but the devil in in the details.

‘Followers rather than leaders’

That kind of caution is characteristic of the AMA, which generally prefers to work behind the scenes and press its agenda at the negotiating table, rather than rally the public.

“They end up being followers rather than leaders because they want to be where the action is,” said Dr. Marcia Angell, a former editor of the New England Journal of Medicine and a senior lecturer in the department of global health and social medicine at Harvard Medical School.

More than 190 medical organizations with various agendas are represented through the AMA’s House of Delegates, forcing the organization to balance often-competing interests. On top of that, there’s growing political polarization among doctors, now split almost evenly between Republicans and Democrats. And clinicians are further divided by type of practice and employer.

Because the AMA’s tent is so large, “they have difficulty articulating strong policy positions,” said Berenson, the Urban Institute scholar.

           The affordable care act has been a giant step toward the goal. However it has many near fatal flaws written into a non-flexible law. Now is the time for all physicians to step up and encourage changes that will make it successful.

           The numbers of how many more people are insured is no measure of success.  The cart has been placed before the horse. Despite the built in bureaucratic mandates it is paper tiger unrelated to real quality care in provider's offices.  In fact it has reduced efficiency, increased cost and in no way has improved quality of care.  The only measure Health Train Express has seen is the reduction in admissions within 30 days of discharge from a hospital.  I am not certain how that equates to an improvement in QOC except it saves CMS (taxpayers) dollars.













Dissent roils the AMA, the nation's largest doctors group

I Just Fired my Primary Care Doctor. Before the Appointment Even Happened.

I sighed and slumped into a chair. The office was straight out of the 90’s: clunky desktop computer, paper forms attached to a clipboard. 15 minutes after my appointment should have started, a cagey Latino gentleman ambled behind the desk and asked for my ID and insurance card. I handed them over and watched as he proceeded to fire up a printer in an attached room, print off the registration and history forms I’d sent through ZocDoc, and make copies of my information.  I craned halfheartedly to count the number of shelves before I stopped caring. I felt uncomfortable all of a sudden. The dinginess of the cramped office seemed to amplify a sense of entropy, an oppressive, disheveled dysfunctionality. The stacked tower of dusty magazines. Two dying plants, leaves dried yellow and curling. A slightly off-center, sun-faded print: Monet. Reams of manilla folders so ancient that they literally had holes in them. Literally. I don’t want this anachronistic nightmare of a place to become the bottleneck to my ability to access my own health information (or is it even really mine?) Especially not if or inevitably when I become medically vulnerable. Consumer Me can protect Patient Me by being impatient.

Patients now expect physicians to be experts in technology and business acumen.  It is o longer acceptable to be  dependent upon fax machines, when electronic health records and secure digital documents are more efficient and cost effective.

The waiting room and shenanigans in this vignette do not breed comfort or a sense of competence for a patient. Perhaps calling a patient a consumer (anathema to we physicians) can be a good thing. It gives the patient consumer power. ie follow the money. Sad as I am losing the old 'cottage medicine flavor' I see the benefits of the decade  of revolution.

Many physicians embraced the changes adapting EHR, some  aspects of health reform, while most resisted and bridled at changing their ways.

Medical Front Office of the 90s

Reception Area of 2016

I walked with my feet  to another doctor's office:

This morning’s experience combined some of the best consumer-grade tools (Shout out to Zocdoc: Crushing it! Quick, accurate search with no log-in/account required → confirmation code sent via SMS → second text to my phone with a secured link that prompted my phone’s camera to pop up, so I could snap a picture of my insurance card, front and back, for ease of all future transactions. Magic! Love it.), with some of the worst (see above.)

I voted with my feet today. I left behind an unseen doctor whose clinical adeptness was rendered useless by his business ineptness,   

I Just Fired my Primary Care Doctor. Before the Appointment Even Happened.

Let My Doctor Practice

I hope you will find time to watch and listen to this video.  It synthesizes the thoughts of most physicians.  While watching the video take some  notes to discuss with your friends, doctors and your representatives.

Here are the time markers of  high  points in the video:

:04

:22

:36

;50

1:20

1:50

2:13

2:30

3:16

3:27  The Story of Esther

4:46  Let my doctor practice (the summit)

5:40  Professional practice in the United States is in progressive decline

www.letmydoctorpractice.org

www.docs4pcfoundation.org

I hope you will share this important information widely.  Please comment.

To receive up to the minute information and follow "Let my doctor practice"  Subscribe   to receive email updates.

Own your health care !

Cystic Fibrosis | The Mighty

A 'Mighty' message for those and their families with Cystic Fibrosis

Real People. Real Stories.

We face disability, disease and mental illness together.
Stories and information about Cystic Fibrosis

Learn about Cystic Fibrosis

Cystic Fibrosis Foundation

Cystic Fibrosis | The Mighty

These are the healthiest and unhealthiest states in the country

Hawaii is the healthiest state in the country for the fifth consecutive year, according to an annual state-by-state health ranking report. 

The 2016 America's Health Rankings highlight some long-term improvements in overall health across the country and some disturbing new trends. 

While smoking among U.S. adults decreased by 41% since the start of the report in 1990, and the percentage of the population that is uninsured decreased by 35% in the past five years, for the first time in the report’s history, cardiovascular deaths increased over the past year. Even more disturbing, over the past two years, the rate of premature death has also increased, according to Reed Tuckson, external clinical advisor United Health Foundation, a not-for-profit foundation, that sponsors the report. 

“We are still living longer, but sicker, and getting sicker sooner,” Reed said. "People are experiencing obesity and related consequences earlier in life which is also a problem.”  Obesity, poor eating habits and the explosion of diabetes related complications offset many improvements in health during the past two decades.

The report also found that drug deaths increased 9% over the past five years. Tuckson said the report highlights that the nation is at a health crossroads, with positive health changes like a decrease in smoking and more insured people as wins, but troubling levels of obesity, diabetes, high blood pressure and sedentary behavior diminishing the positive steps. 

"We have to remember that we have to put the fight for promoting health and prevent disease much higher on the agenda," Tuckson said. "If we don’t, we as a nation will see further slippage and see those fearful trends of premature death, people dying from cardiovascular disease at higher rates than years before." 

According to the report, Hawaii ranked first in overall health, with a low percentage of uninsured people, low rates of obesity and a low prevalence of obesity. But it's not all beachy in paradise, according to the report, which notes Hawaii scores above the national average for excessive drinking.

Mississippi fell from 49th to 50th this year, according to the report, which uses data from the Centers for Disease Control and Prevention, American Medical Association, Census Bureau and even the FBI. It looks at a slew of measures of health, including tobacco and alcohol abuse, exercise, infectious diseases, crime rates, public health funding, access to immunizations, premature birth rates and cancer and heart disease rates.

Mississippi has a high prevalence of smoking, low birthweight and a high percentage of children living in poverty, according to the report. But while Mississippi has the most room for improvement, the state does have a low prevalence of excessive drinking and drug-related deaths. 

Here's a look at the top five healthiest states: 

1. Hawaii

2. Massachusetts

3. Connecticut

4. Minnesota

5. Vermont

States with the most room for improvement: 

50. Mississippi 

49. Louisiana

48. Arkansas

47. Alabama 

46. Oklahoma

45. Kentucky 

Where does your state fall?

These are the healthiest and unhealthiest states in the country