Update Saturday, Oct. 29 - Nov. 3, 2017
Wanted: 1 million people to study genes, habits and health
Washington (AP) - In a quest to
end cookie-cutter health care, U.S. researchers are getting ready to
recruit more than 1 million people for an unprecedented study to learn
how our genes, environments and lifestyles interact - and to finally
customize ways to prevent and treat disease.
Why does one sibling get sick but not
another? Why does a drug cure one patient but only cause nasty side
effects in the next?
Finding out is a tall order. Today,
diseases typically are treated based on what worked best in short
studies of a few hundred or thousand patients.
"We depend on the average, the
one-size-fits-all approach because it's the best we've got," said Dr.
Francis Collins, director of the National Institutes of Health.
That's changing: The NIH's massive "All
Of Us" project will push what's called precision medicine, using traits
that make us unique in learning to forecast health and treat disease.
Partly it's genetics. What genes do you harbor that raise your risk of,
say, heart disease or Type 2 diabetes or various cancers?
But other factors affect that genetic
risk: what you eat, how you sleep, if you grew up in smog or fresh air,
if you sit at a desk all day or bike around town, if your blood pressure
is fine at a check-up but soars on the job, what medications you take.
Not to mention differences based on age,
gender, race and ethnicity, and socioeconomics.
Layering all that information in what's
expected to be the largest database of its kind could help scientists
spot patterns, combinations of factors that drive or prevent certain
diseases - and eventually, researchers hope, lead to better care.
"The DNA is almost the easiest part,"
Collins said. "It's challenging to figure out how to put all that
together to allow somebody to have a more precise sense of future risk
of illness and what they might do about it."
Pilot testing is under way, with more
than 2,500 people who already have enrolled and given blood samples.
More than 50 sites around the country - large medical centers, community
health centers and other providers like the San Diego Blood Bank and,
soon, select Walgreens pharmacies - are enrolling patients or customers
in this invitation-only pilot phase.
If the pilot goes well, NIH plans to open
the study next spring to just about any U.S. adult who's interested,
with sign-up as easy as going online.
It's a commitment. The study aims to run
for at least 10 years.
The goal is to enroll a highly diverse
population, people from all walks of life - specifically recruiting
minorities who have been under-represented in scientific research.
And unusual for observational research,
volunteers will get receive results of their genetic and other tests,
information they can share with their own doctors.
"Anything to get more information I can
pass on to my children, I'm all for it," said Erricka Hager, 29, as she
signed up last month at the University of Pittsburgh, the project's
first pilot site. A usually healthy mother of two, she hopes the study
can reveal why she experienced high blood pressure and gestational
diabetes during pregnancy.
Heading the giant All Of Us project is a
former Intel Corp. executive who brings a special passion: How to widen
access to the precision medicine that saved his life.
In college, Eric Dishman developed a form
of kidney cancer so rare that doctors had no idea how to treat him, and
predicted he had months to live. Only two studies of that particular
cancer had ever been done, on people in their 70s and 80s.
"They didn't know anything about me
because they'd never seen a 19-year-old with this disease," said
Yet he survived for two decades, trying
one treatment after another. Then, as he was running out of options, a
chance encounter with a genetics researcher led to mapping Dishman's DNA
- and the stunning discovery that his kidney cancer was genetically more
like pancreatic cancer. A pancreatic cancer drug attacked his tumors so
he could get a kidney transplant.
"I'm healthier now at 49 than I was at
19," said Dishman. "I was lucky twice over really," to be offered an
uncommon kind of testing and that it found something treatable.
Precision medicine is used most widely in
cancer, as more drugs are developed that target tumors with specific
molecular characteristics. Beyond cancer, one of the University of
Pittsburgh's hospitals tests every patient receiving a heart stent -
looking for a genetic variant that tells if they'll respond well to a
particular blood thinner or will need an alternative.
The aim is to expand precision medicine.
"Why me?" is the question cancer patients
always ask - why they got sick and not someone else with similar health
risks, said Dr. Mounzer Agha, an oncologist at the University of
Pittsburgh Medical Center.
"Unfortunately I don't have answers for
them today," said Agha, who says it will take the million-person study
to finally get some answers. "It's going to help them understand what
are the factors that led to their disease, and it's going to help us
understand how to treat it better."
And NIH's Collins expects surprises.
Maybe, he speculates, Type 2 diabetes will turn out to be a collection
of genetic subtypes that require varied treatments.
"This looks at individual responses to
treatment in a way we couldn't do previously with smaller studies."
The study starts simply: Volunteers get
some standard health checks - weight, blood pressure and heart rate.
They answer periodic questionnaires about their health, background and
habits, and turn over electronic health records. They give a blood
sample that, if they agree, will undergo DNA testing sometime next year.
Eventually, researchers will ask some
participants to wear sensors that may go beyond today's Fitbit-style
health trackers, such as devices that measure blood pressure while
people move around all day, or measure environmental exposures, Collins
In Pittsburgh, the Rev. Paul Abernathy
made a health change after signing up for the pilot study: Surprised to
learn his BMI was too high despite regular weightlifting, he began
"I'm praying I have the discipline to
continue that, certainly in midst of a busy schedule," said Abernathy,
who directs the nonprofit Focus Pittsburgh that aids the poor and trauma
"We have a chance really to influence
history, to influence the future of our children and our children's
children," added Abernathy, who hopes the study will help explain racial
disparities such as lower life expectancies between African-Americans
and whites who live in the same areas.
At NIH, Collins plans to enroll, too.
He's had his DNA mapped before but can't pass up what he's calling a
one-in-a-million experience to be part of a monumental study rather than
the scientist on the other side.
"I'm curious about what this might teach
me about myself. I'm pretty healthy right now. I'd like to stay that
Update Saturday, Oct. 21 - Oct. 27, 2017
FDA OKs Glaxo’s inhaler, first one to combine 3 medicines
The Food and Drug Administration approved
GlaxoSmithKline PLC’s Trelegy Ellipta inhaler, the first to combine
three medicines to ease breathing in patients with emphysema or chronic
bronchitis. (GlaxoSmithKline PLC via AP)
Linda A. Johnson
Trenton, N.J. (AP) - The
Food and Drug Administration has approved the first inhaler combining
three medicines to ease breathing in patients with emphysema or chronic
The FDA late Monday approved sales
of Trelegy Ellipta, developed jointly by GlaxoSmithKline PLC and
Innoviva Inc. It contains three widely used types of medicine to prevent
- rather than treat -flare-ups of the life-threatening breathing
Once daily, patients inhale the
medicines through their mouth to open breathing passages and reduce
inflammation that can make breathing difficult in people with chronic
obstructive pulmonary disease, which includes emphysema and bronchitis.
The disorder worsens over time,
requiring patients to add more medicines to prevent flare-ups that can
land them in the emergency department - or worse. Many patients use two
inhaler types plus other medicines.
An estimated 384 million people
worldwide have chronic obstructive pulmonary disease, or COPD, which can
make everyday activities such as walking up stairs difficult. It’s
usually caused by cigarette smoking or exposure to secondhand smoke,
chemical fumes or excess dust in the environment.
U.K.-based GlaxoSmithKline is
launching Trelegy with a list price of $530 per month. That’s $146 a
month cheaper than the combined prices of two GlaxoSmithKline inhalers
that together contain the same three medicines: Incruse Ellipta and Breo
The medicines are an
inflammation-reducing steroid called fluticasone furoate, and
umeclidinium and vilanterol, drugs that widen narrowed airways and relax
their muscles. Common side effects include headaches and other pain,
diarrhea, nausea, stomach cramps and cough. Vilanterol and similar drugs
carry an increased risk of asthma-related death. Trelegy also can worsen
glaucoma and certain infections.
Insurers and prescription benefit
managers likely will win significant discounts off the $530 retail price
in exchange for covering Trelegy. However, those payers may pass all or
much of the savings on to employers and other clients, rather than
reducing patients’ out-of-pocket costs.
The product’s approval, the fourth
for a Glaxo inhaler since 2013, should help the company rebuild its
flagship respiratory medicine business. It was long a leader in the
category, thanks to its widely used allergy drug Flonase and its Flovent
and Advair inhalers. Flonase has generic competition now, and the
drugmaker now sells a nonprescription version.
Flovent, launched in 1994, has seen
sales cut by newer inhalers, including Glaxo’s products. Advair, which
provided about one-third of Glaxo’s revenue for many years, also has
seen increasing competition in recent years. Advair sales are down by
more than half since their peak of $8.15 billion in 2011 and are
expected to decline to just $1.43 billion by 2020.
The Incruse and Breo inhalers, both
launched since 2014, and the Anoro inhaler launched in 2013 have barely
made up for one-sixth of that lost revenue.
Treatment restores signs of
awareness in brain-injured man
This image provided by the CNRS Marc
Jeannerod Institute of Cognitive Science in Lyon, France, shows
brain activity in a patient before, top row, and after vagus
nerve stimulation. Warmer colors indicate an increase of
connectivity. (CNRS Marc Jeannerod Institute of Cognitive
Science, Lyon, France via AP)
New York (AP) -
French researchers say they restored some signs of consciousness
in a brain-injured man who hadn’t shown any awareness in 15
During months of
experimental treatment, his gaze could follow a moving object
and he turned his head toward people speaking to him. He could
also turn his head when asked to do so, and his eyes widened
when a researcher suddenly came very close to his face, the
The treatment involved
implanting a device in the man’s chest to electrically stimulate
the vagus nerve, which extends into the brain. The technique is
sometimes used for depression or to reduce the number of
seizures in epilepsy. The vagus nerve, which also reaches down
into the abdomen, plays many roles including slowing the
heartbeat and controlling muscles of the small intestine.
During the treatment, the
man also shed tears and smiled while listening to a favorite
song by French singer Jean-Jacques Goldman. The tears might have
been the result of the nerve stimulation, said Angela Sirigu of
the Marc Jeannerod Institute of Cognitive Science in Lyon,
France, which is affiliated with the National Center for
Scientific Research. Because of brain damage, the man could not
speak, she said.
Sirigu is an author of a
study released Monday by the journal Current Biology.
The 35-year-old man, who
was injured in a traffic accident, had spent 15 years in a
so-called vegetative state, which the eyes are sometimes open
but the patient shows no signs of awareness.
His behavioral improvements
appeared about a month after the device was switched on and
persisted for the remaining five months of stimulation, Sirigu
said. Brain scans also showed better functioning.
The result “totally makes
sense to me,” said Dr. Nicholas Schiff, a neuroscientist at
Weill Cornell Medicine in New York City who did not participate
in the research. While it’s the first success in a patient who’d
spent 15 years in a vegetative state, it fits with other results
that show even patients with long-standing, severe brain injury
can be helped by treatment, he said. The challenge now is
translating that science into better medical care, he said.
treatments for the vegetative state have failed to show
improvement, said Dr. James Bernat, emeritus professor of
neurology and medicine at Dartmouth College in Hanover, New
Hampshire. Like any report about a single patient, he said, the
new one is “provocative but not definitive,” and further study
is needed to see what kinds of patient it can help.
Sirigu said she’s planning
a large study involving several medical centers.
Update Saturday October 14 - October 20, 2017
Age matters when it comes to screening for cervical cancer
Graphic shows rate of cervical cancer in the
- Getting checked for cervical cancer isn’t
one-size-fits-all: Millions of women may soon have to decide between a
routine Pap or a newer test that detects if they have a cancer-causing
guidelines released Tuesday for the first time say either option is
reasonable for certain women - those ages 30 to 65.
Paps, a mainstay
for women’s health for decades, can spot pre-cancerous abnormalities in
time to prevent cancer. Newer HPV tests detect the virus that causes
nearly all of that cancer, and while they’re widely used to confirm Pap
results, most U.S. medical groups haven’t yet pushed them as a
stand-alone alternative for screening.
doesn’t signal an imminent end to the Pap era. Paps, not HPV tests,
still are recommended for screening women in their 20s, stressed the
guidelines from the U.S. Preventive Services Task Force.
And don’t let the
which-test debate blur the main message: “Screening for cervical cancer
saves lives,” said Task Force member Dr. Carol Mangione of the
University of California, Los Angeles.
Today, too many
women still miss out. Some things to know:
still a threat
Cervical cancer has
dropped dramatically over the past half-century thanks to Pap testing.
Still, this year an estimated 12,820 U.S. women will be diagnosed with
cervical cancer, and about 4,200 will die. Most haven’t been screened,
or have gone too long between checks.
Paps examine cells
scraped from the cervix. HPV testing looks for high-risk strains of the
human papillomavirus, the nation’s most common sexually transmitted
infection. According to the Centers for Disease Control and Prevention,
just about everyone will get at least one strain at some point in their
lives. But only certain strains cause cervical cancer - and only if they
linger long enough in the body.
Age matters for screening
women need a Pap every three years from age 21 to 29, agree most U.S.
physician groups and the draft Task Force guidelines. Cervical cancer
grows so slowly that regular Paps can find a problem early enough to
While the Food and
Drug Administration has approved an HPV test for women as young as 25,
national guidelines have long recommended Pap screening for
20-somethings. That age group is most likely to get HPV - and the vast
majority of the time their bodies clear the infection before it harms.
at age 30?
The older you get,
the greater the chance that an HPV infection is the years long, harmful
kind. To better catch those cases, today what’s called co-testing is
increasingly common for women 30 and over - a Pap-plus-HPV test
combination. If the results of both tests are negative, women can wait
five years to test again.
But both Paps and
HPV testing can trigger false alarms, prompting unneeded, and sometimes
harmful, additional care to rule out cancer. New studies show co-testing
leads to more false alarms than either test alone, without adding
Tuesday’s Task Force proposal to let women 30 and over choose an HPV
test by itself every five years - or a Pap every three years instead.
The proposal is open for public comment through Oct. 9, before it will
already are moving to make HPV testing the chief screening tool,
including the Netherlands and Australia.
“Most experts in
this area are in agreement that HPV testing alone is the future of
cervical screening,” said Debbie Saslow of the American Cancer Society,
who wasn’t involved with Tuesday’s draft guidelines.
Weigh pros and cons
Women in their 30s
and older need to discuss screening options with their health providers,
said Dr. Jason Wright, gynecologic oncology chief at New
York-Presbyterian/Columbia University Medical Center, who also wasn’t
involved with the new guidelines.
An HPV test can
cost twice as much as a $40 Pap, but doesn’t require screening as often.
Some data suggest HPV testing leads to more diagnosis of risky
pre-cancer - but even by itself, an HPV test can spark more false alarms
than a Pap, Wright said.
follow-up tests can alter the cervix in ways that may affect future
pregnancies, a consideration for women still interested in childbearing,
added the Task Force’s Mangione.
Who can skip cervical cancer screening?
recommended for women younger than 21, or those who had a
Women can stop
screening after age 65 if proper checks until then show they’re healthy,
current guidelines agree.
What if women received the HPV vaccine as an adolescent?
screened, following recommendations for your age. The first HPV vaccine
hit the market about 10 years ago, too soon to know if it’s safe for the
now-grown first recipients to be screened less often, and newer vaccine
versions protect against more strains, said Saslow, the cancer society’s
senior director of HPV-related and women’s cancers.
enough young women grow up fully vaccinated, screening recommendations
may change, she said.
Update Saturday October 7 - October 13, 2017
Study shows hormone pills don’t shorten older women’s lives
Dec. 12, 2002 file photo, Dr. JoAnn Manson poses with a printout from a
study she directed on hormone replacement therapy for women at her office in
Boston. In research results released on Tuesday, Sept. 12, 2017, Manson said
hormones may be appropriate for some women when used short-term to relieve
hot flashes and other bothersome menopause symptoms. (AP Photo/Elise
Chicago (AP) -
Taking hormone pills for several years after
menopause didn’t shorten older women’s lifespans, according to the longest
follow-up yet of landmark research that transformed thinking on risks and
benefits of a once popular treatment.
That research was
halted early when unexpected harms were found from using replacement
hormones - estrogen alone or with progestin - versus dummy pills for five to
seven years. More breast cancer, heart attacks and strokes occurred in women
on combined pills, and those on estrogen pills had more strokes.
But about 18 years of
follow-up show that despite those risks, women had similar rates of deaths
from heart disease, breast cancer and all other causes as those who took
The new results are
reassuring and support current advice: Hormones may be appropriate for some
women when used short-term to relieve hot flashes and other bothersome
menopause symptoms, said Dr. JoAnn Manson, preventive medicine chief at
Boston’s Brigham and Women’s Hospital and lead author of the follow-up
“It’s the ultimate
bottom line,” said Manson, who was also part of the original research. Women
want to know “is this medication going to kill me” and the answer appears to
be no, she said.
Results were published
Tuesday in the Journal of the American Medical Association.
Hormones were once
considered a fountain of youth for women entering menopause because of weak
evidence suggesting a host of purported benefits including reducing heart
disease and boosting memory. The landmark research, backed by the U.S.
government, began in the early 1990s to rigorously test hormones’ effects in
older women randomly assigned to take the pills or dummy treatment. Brands
studied were Prempro estrogen-progestin pills and Premarin estrogen-only
The results led to
advice against taking hormones to prevent age-related diseases. When used
for menopause symptoms, the lowest possible dose for the shortest possible
time was recommended, then as now. For some women already facing health
risks, hormones’ potential harms may outweigh any benefits, and discussions
with a doctor about starting the treatment are advised.
Participants were aged
50 to 79 and past menopause, older than typical users, and took larger doses
than currently recommended.
The follow-up involved
most of the more than 27,000 women who were part of the original research.
It included time using pills and about 10 or so years after stopping. Some
earlier follow-ups suggested no increased risk of death in hormone users,
but Manson said this is the first to focus only on deaths from various
Overall, almost 7,500
women died - about 27 percent each in the hormone and dummy pill groups.
Most deaths occurred after women stopped taking hormones. About 9 percent of
women in both groups died from heart disease and about 8 percent from breast
and other cancers.
Among the youngest
women, there were fewer overall deaths early on among hormone users than
dummy-pill users, but the rates evened out after women stopped using the
Overall, death rates
were similar among women on both types of hormone treatment versus dummy
Prempro and Premarin
are both approved to treat menopause symptoms and to prevent bone-thinning
osteoporosis. Even so, many women and their doctors remain wary of hormone
use. An editorial published with the follow-up study says the results “will
hopefully alleviate concerns” about the long-term consequences.
More research is needed
on risks and benefits of other types of hormones including patches, Manson