Are Aging Muscles Why You’re Tired All The Time And Gaining Weight


Buried deep inside your muscle tissue may be the secret answer to your flagging energy, growing waist size, and declining health. Take action now.

increase metabolism

Under the glare of overhead lights, the paper-thin, ruby-red shavings of Rosangela Santiago’s muscle glow like fine gems. I can’t believe those just came out of my thigh, she thinks, watching as a scrubs-clad researcher places the five tiny slices into individual vials. Normally on a Tuesday morning, Santiago would be sitting at the office, processing invoices and getting a slow start to her day. But today she’s lying on a surgical table at the Translational Research Institute for Metabolism and Diabetes in Orlando, in the midst of a muscle biopsy and officially now a lab rat in the race for a more sophisticated understanding of why we get fatter, weaker, and sicker with age—and how it’s all intricately linked to the meaty fiber hidden beneath our skin.

A few moments from now, the research team will carefully preserve Santiago’s tissue in a liquid nitrogen tank chilled to -328°F, adding it to the thousands of other samples from people who, like Santiago, have volunteered for the TRI’s studies—studies that are contributing to a dramatic shift in how we think about muscle. For within those vibrant slivers of Santiago’s quadriceps lies precious information about her current health, as well as a forecast of what her future may hold. New science shows that it’s not just how much muscle you have that’s important—it’s what’s inside it that matters most. Metabolically active muscle—the kind that’s devoid of harmful fat and teeming with mitochondria, the metabolism-boosting powerhouses within cells—has a profound influence on everything from your weight to your energy levels to your risks of diabetes and heart disease. Even your chances of surviving a hospital stay or beating cancer are affected by the health of your muscle. This fitter, leaner, more-bang-for-your-buck tissue is so vital, in fact, that pharmaceutical companies are in hot pursuit of drugs that will enhance the metabolic capacity of muscle and help us maintain it as we age, as well as during hospital stays or times of illness.

Like most of us, Santiago doesn’t yet know that diminishing muscle quality is a large part of the reason she’s been so tired lately and why those few extra pounds have started clinging to her like swirls of frosting to a cake. She’s volunteered in hopes that the study will help her better understand how her metabolism works and inspire her to start—and stick with—a workout program. For the past decade, as the demands of work, school, and raising three sons have piled up, she’s done little more than trek from her house to her car. Ten thousand steps a day? She’s lucky if she takes 500. By the lab’s calculations, she falls solidly within the range of “total couch potato” and is inching closer to becoming diabetic. It’s the wake-up call she needs, but she can’t help but feel scared: How did I let myself get so far off track?

Aside from the fatigue, however, Santiago, 38, feels relatively healthy, and therein lies the big danger for her and the rest of us: Losing metabolically charged muscle is a sneaky, below-the-radar problem that starts in our 30s. Without your knowing it, as the years go by and you spend more time sitting and less time moving, your muscle loses its zing. Mitochondria slowly decline in number and vigor, while pernicious fat starts to seep in, marbling your muscle until it looks more like rib eye than lean top sirloin. Little by little, your health and vitality decline, until one day you realize that your favorite clothes no longer fit, you’re exhausted by a trip to the grocery store, and your doctor is writing you a script for metformin to control your diabetes.

Unless, of course, you know how to turn this destructive situation around.

After hearing Santiago’s story, I’m halfway through my own tour of the TRI’s high-tech muscle lab when I start to wonder what the inside of my own muscle looks like. “So how do I know if my mitochondria levels are low or if my hamstrings are getting fat?” I ask Bret Goodpaster, one of the TRI’s fit, brainy researchers. He’s promised to help me understand how Santiago and the rest of us can naturally harness the anti-aging, disease-preventing power that lies buried in our quads and glutes.

photographs by Ian Allen and bob croslin

He waves me over to a tidy row of microscopes that he and his colleagues use to peer inside muscle’s mysterious inner world. As Santiago did, I’d need to undergo a biopsy and have the TRI slide a slice of tissue under one of these high-powered lenses to determine my mitochondria levels, as well as get an MRI scan to check for fat infiltration—procedures that are normally done only in a research environment. Or, he tells me, anyone can make an educated guess about the state of their tissue. The single most important factor: how often you put one foot in front of the other.

It turns out that, like so much having to do with our health, the wealth of our mitochondria and the leanness of our muscle is inexorably bound to how much—or how little—we move. In terms of mitochondria, it’s a classic case of supply and demand. Whether you’re doing a quick walk or a hard workout, when muscles need energy, they call on these microscopic generators to turn glucose and fat into adenosine triphosphate, the cellular fuel your muscles use to fire. Stay away from the gym too long and your hyperefficient body notices that it doesn’t need as many of these teeny power plants, so it tells the extras to take a hike—and the ones that do stick around become sluggish and less efficient. Over time, your internal power source dwindles from a roaring fire to a flickering candle, sapping both your energy and your capacity to burn fat.

The thought of becoming inept at torching belly flab has me worried. I raise my concerns to Goodpaster, who quickly points out that the ramifications go far beyond how I fit into my jeans. Vibrant, plentiful mitochondria also help keep muscle tissue lean, so the fewer of the mighty mitos you have, the easier it is for fat to worm its way deep inside. And fat can be toxic in muscles, because it can cause the tissue to become less responsive to insulin, making it easier to gain weight and harder to lose it—and putting you smack in the crosshairs of diabetes.

If that’s not alarming enough, research shows that fatty muscle is more likely to cause weakness and loss of mobility—making you doddering before your time—than dwindling muscle tissue itself. It doesn’t take a PhD to do the math: When you are weaker and tired and have less stamina, exercise can go quickly from challenging to painful to less appealing than filing taxes. Get too comfortable on the couch and you’ll perpetuate the cycle, losing more mitos and stock­piling more fat with every sofa-bound day that goes by.

photographs by Ian Allen and bob croslin

My mind wanders again to the small layer of blubber that, now that I’m 52, has settled around my midsection. Even though I hike and run 6 days a week, I haven’t always been so virtuous. When my kids were younger, there were months-long stretches when I was way too busytiredoverwhelmed to do anything more strenuous than shuffle through the grocery store. I can’t help but wonder: Could that same stealthy stuff have invaded my muscle? “So how far off is that miracle drug the pharmaceutical companies are working on?” I ask Goodpaster jokingly.

Years, if ever, he tells me. Then he lights up like a kid visiting nearby Disney World. But that’s the cool part, he says. If you keep exercising, you may never need it.
Exactly how exercise unlocks muscle’s anti-aging potential is still a bit of a mystery, but it appears that aerobic workouts—whether you’re walking on the treadmill or taking a spin on your bike—spark the cellular system that creates new mitochondria. As your muscles demand energy, the mitos themselves, along with enzymes in the tissue, switch on genes that start transcribing mitochondrial DNA. The more you stick with it, the more you make, and the more efficient your muscles become at burning fat and providing energy. It doesn’t take much to make an impact: Research shows that after as few as 3 to 7 days of brisk walking for 45 minutes, you’ll start to spur the growth of new mitochondria.

“What if you’ve been sedentary for most of your adult life?” I ask, thinking of older people I’ve known who’ve slowly become shadows of their former vibrant selves. “Is it really possible to get your muscle’s mojo back?”


Although some people have a more robust response than others—an unfair advantage that can probably be traced, along with other enviable traits, to good genes—anyone, no matter their age, can create more youthful muscle, says Goodpaster, who’s seen dozens of turn-back-the-clock transformations in his 20 years as a muscle evangelist. In one study of sedentary men and women in their late 60s, participants who walked on a treadmill or rode an exercise bike for 30 to 40 minutes 4 to 6 days a week increased their mitochondria volume by as much as 68% in just 12 weeks. In another study, researchers found that inactive people in their 70s and 80s larded their muscle with 18% more fat in a single year—a level that can lead to a life-changing drop in strength and mobility—while active people the same age didn’t gain an ounce.

The numbers can change drastically, almost shockingly, when exercise is added. Goodpaster refers me to Colette Satler, a 65-year-old MRI technologist in Pittsburgh who participated in one of his muscle studies in 2009. At the start, she had recently lost a significant amount of weight through bariatric surgery but still felt out of shape. She was even thinking of retiring early because climbing the stairs at the hospital where she worked left her winded. Within 6 months of starting a regular exercise program (she pedaled a stationary bike or walked on a treadmill for 60 minutes 3 or 4 days a week), not only had her mitochondria volume increased by 30%, but she also slashed the fat in her muscle by nearly half. Instead of retiring, she completed an item on her bucket list: a 300-mile bike ride from DC to Pittsburgh.


More curious than ever about the content of my own muscle, I ask Goodpaster if he’ll biopsy mine. My 81-year-old mom walked regularly at my age; now, sidelined for a decade by a degenerative spine condition, she can barely make it 2 blocks. Does the same fate await me? Have I been doing enough? He declines, reminding me that I have to be part of a study to undergo the procedure. A few weeks later, I shell out for an MRI, so I can at least find out if all my sweating is keeping fat from colonizing my lean tissue.

As I’m lying inside the coffinlike tube of the scanner, the technician aims the magnetic pulses at my left calf, a muscle I’ve toned through years of running up hills. It’s hard not to fidget when my mind is swimming with visions of gooey, marbled tissue. But soon I’m heading home, dozens of shadowy images in my grasp.
I pore over them, trying to understand what I’m looking at. At a loss, I ship them off to Goodpaster. Within 24 hours, I get just what I’m looking for in midlife: reassurance. According to him, my muscle tissue is as healthy as a 25-year-old’s. With my own anxiety allayed, I check back in with Santiago to see how she’s doing.
For the past 6 weeks, she’s been making a crack-of-dawn trek to the TRI to ride a stationary bike and walk on a treadmill for up to 90 minutes. Instead of dragging through the beginning of her day, she feels energetic and alert, and by 6 pm, when she’s sitting in her night class, she has energy to spare. According to the researchers, she’s also put on a full pound of healthy, fit muscle. But when she feels this good, she doesn’t need a lab result to tell her the most important thing:  “Exercise makes me feel happier, leaner, and younger,” she says. “It’s the best drug out there.”

Healthy gut flora helps prevent metabolic disorder, improve digestive health, strengthen immunity and more.


Researchers from Georgia State University have used improved technological approaches to further demonstrate the role that healthy gut flora plays in helping prevent metabolic disorder, something which an estimated 34 percent of American adults suffer from. Once healthy gut flora is disrupted, they say, the door that leads to inflammation and in turn, health problems such as metabolic disorder, is left wide open. Therefore, the experts note that it’s important to keep the bacteria that reside in the intestines functioning properly.(1)

“We’ve filled in a lot of the details about how it works,” said Dr. Andrew Gewirtz, a professor in the Institute for Biomedical Sciences at Georgia State who was involved in the study. “It’s the loss of TLR5 on the epithelium, the cells that line the surface of the intestine and their ability to quickly respond to bacteria. That ability goes away and results in a more aggressive bacterial population that gets closer in and produces substances that drive inflammation.” In addition to metabolic disorder, an upset in gut flora can also lead to chronic inflammatory diseases such as ulcerative colitis and Crohn’s disease.(2)

According to the American Heart Association, the disorder typically surfaces when a “cluster of metabolic risk factors” — high triglyceride levels, abdominal obesity, low levels of HDL cholesterol, high blood pressure and high fasting glucose readings — occur together. Those affected are more prone to stroke, heart disease and diabetes.(3)

How healthy gut flora changes for the worse

The researchers explain that, usually, bacteria maintain a certain distance from epithelial cells. But they found that, when gut microbiota is altered, bacteria behave more aggressively and get very close to the protective epithelium. It’s then that harmful substances can be produced, wreaking havoc on the body.(2)

The study, recently published in the journal Gastroenterology states:

Several chronic inflammatory diseases affecting the gastrointestinal tract, as well as a variety of other organ systems, are associated with alterations in gut microbiota composition, suggesting involvement of the microbiota in these disorders.(4)

Several factors can contribute to disruptions in healthy gut flora.

In addition to behaviors that can lead to obesity and high blood pressure such as an improper diet or chronic stress, it would appear that society’s attempt to control what occurs naturally in the body also plays a role.

Consider tossing meds that alter gut bacteria and choose natural foods instead

For example, the authors of Why Stomach Acid is Good For You: Natural Relief from Heartburn, Indigestion, Reflux & GERD, Jonathan Wright, MD, and Lane Lenard, PhD, explain that people’s excessive use of over-the-counter and prescribed medications designed to keep stomach acid at bay is doing more harm than good to one’s system. People pop the likes of antacids like it’s going out of style, often without considering the fact that ingestion of these items disrupts healthy gut bacteria and may even lead to MORE of what they’re trying to escape in the first place. Their bottom line is that healthy bacteria is needed to flourish, not be tampered with as though they are an evil meant to be constantly fought off.(5,6)

To keep healthy gut flora intact and bolster immunity while staving off metabolic syndrome and conditions such as Crohn’s disease, irritable bowel syndrome and even seasonal allergies, experts suggest eating a diet rich in probiotics, which are already existent in a normal digestive system. Probiotic-rich foods include sauerkraut, plain unflavored yogurt, kefir, miso, kombucha tea, tempeh and kimchi.(7,8)

Sources for this article include:

(1) http://www.sciencedaily.com

(2) http://www.eurekalert.org

(3) http://www.heart.org

(4) http://www.gastrojournal.org

(5) http://www.tahomaclinicblog.com

(6) http://www.amazon.com

(7) http://www.health.harvard.edu

(8) http://foodmatters.tv

(9) http://science.naturalnews.com

Learn more: http://www.naturalnews.com/048157_gut_flora_metabolic_disorder_immune_system.html#ixzz3NfVbZtBZ

​Beds are burning: Australia bans solariums due to skin cancer risks


AFP Photo / Martin Bernetti

The majority of Australian states and territories are banningcommercial tanning beds due to skin cancer threats starting from Thursday in “the sunburnt country” which has one of the highest rates of melanoma in the world.

The legislation will come into force in the states of New South Wales, Victoria, South Australia, Tasmania, Queensland and in the Australian Capital Territory on January 1, 2015.

Western Australia said it is also going to prohibit solariums. However the state hasn’t yet announced a start date. The Northern Territory is the only part of the country where there are no commercial sunbeds.

The ban was welcomed by Cancer Council Australia, a national group aiming to promote cancer-control policies and to reduce the incidence of cancer in the country.

“Australia has one of the highest rates of skin cancer in the world,” advocacy director Paul Grogan told AFP, “Solariums expose users to extremely highly levels of UV [ultraviolet] radiation, greatly increasing their risk of melanoma and other skin cancers.”

According to the interim Minister of Health Mark McArdle the ban follows the concerns about the link between solarium use and skin cancer.

“Queensland already has the highest rate of skin cancer in the world and there is no question there’s a direct link between regular sunbed use and the incidence of malignant melanoma,” he said.

AFP Photo / Martin Bernetti

Environment Minister Ian Hunter said that “no solarium can provide a safe tan.”

Research suggests one in six melanomas in Australian young people would be prevented if solaria are shut down.”

According to Cancer Council Australia the majority of skin cancers in the country are caused by exposure to UV radiation in sunlight. In 2011, total 2087 people died from skin cancer in Australia.

Skin cancers account for around 80 percent of all newly diagnosed cancers in the country while two in three Australians will be diagnosed with skin cancer by the time they are 70, says the group. The incidence of the disease in Australia is one of the highest in the world, two to three times the rates in Canada, the US and the UK.

Australia is in close proximity to the hole in the ozone layer over Antarctica, which also increases the risk of cancer.

Australia is not the first country to ban tanning beds. In 2003 Brazil outlawed sunbeds for minors, then expanded it to all ages in 2009.

Indoor tanning is banned for minors in Belgium, the Netherlands, Finland, France, Germany, Spain, Iceland, Norway and Lithuania.

Developer of Viagra is knighted


The scientist who was responsible for developing Viagra has been knighted.

Dr Simon Campbell oversaw the development of the erectile dysfunction drug for Pfizer. Since it went on sale in 1998 more than a billion of the pills have been sold.

He also helped develop Cardura, which is used to treat high blood pressure and angina, and Norvasc, for high blood pressure and prostate enlargement, some of the world’s bestselling prescription drugs.

He has authored more than 110 patents and publications.

Campbell, 73, retired from Pfizer in 1998 and was highly critical when the American pharmaceuticals company announced it was to close its giant research centre at Sandwich, Kent, in 2011, saying it would compromise the UK’s status as a centre of excellence for pharmaceutical research.

During his tenure as President of The Royal Society of Chemistry he campaigned for more funding and an improved image for chemistry.

He was made a CBE for services to science in 2006.

Yoga Moves to Beat Insomnia, Ease Stress, and Relieve Pain


Combat insomnia

Easy-to-hold Iyengar yoga inversions, which send blood to the head, can help send you off to dreamland. The gentle Supported Standing Wide Leg Forward Bend is easy to relax into and will help still your thoughts.

combat-insomnia

How-to: Stand with hands on hips and feet approximately four feet apart, toes slightly turned in. Place a block or short stack of books on the floor in front of you. Breathe deeply; exhale, fold forward, and place hands on floor shoulder-distance apart with fingers spread. Lengthen spine forward and place crown of head on block so both head and neck are fully supported. Draw shoulders away from ears and hug elbows in. (If you feel a hamstring stretch, widen legs and raise block.) Close eyes; breathe slowly in and out through nose. Hold up to five minutes, then come out of pose slowly.

Why Tech Can’t Help Us Find Missing Airplanes


In 2015, we may be doomed to repeat the problems of 2014, unless we rethink the way we monitor air traffic over the world’s oceans

In an era where it’s possible totrack a stolen Macbook Pro at the click of a button, it seems ludicrous to imagine an entire airplane disappearing. Yet, that’s exactly what happened this year, twice, whenMalaysia Airlines Flight 370 mysteriously vanished in March, followed by a similar disappearing act on the part of AirAsia QZ8501on Sunday. And, thanks to the outdated technology we use to track aircraft, it’s an event that could happen again. The next time you’re on a flight over the ocean, look down. There’s a high probability that nobody knows where you are.

If that concerns you, it should, but it doesn’t seem to bother any of the regulatory agencies responsible for the safety of the over three billion passengers who board airliners every year. Nor does it upsetairlines. Despite the fact that some of the technology used for tracking and monitoring planes dates to the 1930s, regulators and airlines have been slow to adopt alternative technologies, even though they’re available. In 2015, we may be doomed to repeat the problems of 2014, unless we rethink the way we monitor air traffic over the world’s oceans.

You might think that airline tracking relies on a highly sophisticated series of satellites and GPS, but you’re actually wrong. Planes are tracked via radar, an old but still highly effective method of keeping track of large objects in the sky, but it has some flaws, even with the use of a combination of both primary and secondary radar systems. Air traffic control towers and military installations start by using primary radar, which detects objects in range by reading reflected radio signals, to track the movement of aircraft: Think of the classic cockpit green screen with approaching fighter jets in an action movie…

8 Ways Working The Night Shift Hurts Your Health


SHIFT WORK HEALTHhttp://www.huffingtonpost.com/2014/08/14/shift-work-health-risks_n_5672965.html?ncid=fcbklnkushpmg00000030&ir=India

 

 

Arsenic in drinking water linked to a 50% drop in breast cancer deaths


Lab results show that arsenic is capable of killing breast cancer cells.

 In one of the most surprising studies of the year, new research has found a link between arsenic contamination in drinking water and a 50 percent reduction in breast cancer deaths.

Arsenic contamination is a serious health problem for many countries around the world, including China and Chile. But the new study suggests very tentatively that it may potentially have a medicinal effect against breast cancer.

The study looked at breast cancer deaths in a city in northern Chile called Antofagasta, which was inadvertently exposed to extremely high levels of arsenic in its water supply between 1958 and 1970.

The pollution was the result of switching to a geothermal water source originating in the Andes Mountains, but it was later found that the source contained more than 800 micrograms per litre of arsenic – a level 80 times higher than the safe level recommended by the World Health Organisation.

But although the arsenic lead to more deaths in patients who had other types of cancer, surprisingly, the team found that the amount of women dying from breast cancer during the period of high arsenic contamination was half that in the rest of the country.

In women under 60, that decline was even more pronounced, with the number of breast cancer deaths between 1965 and 1970 being 70 percent lower in Antofagata than the rest of the country.

“What we found was astonishing,” said Allan Smith from the University of California, Berkeley, who led the study, in a press release.

“We’ve been studying the long-term effects of arsenic in this population for many years, focusing on increased disease and mortality attributed to the historical exposure to arsenic in this population.”

To investigate what was going on, the researchers grew human breast and breast cancer cells in the lab, and, surprisingly, found that arsenic killed the breast cancer cells, while the human breast cells were more resistant to the toxin than most tissues. The results have been published in the journal EBioMedicine.

This isn’t the first time arsenic has been used to fight cancer – in 2000 the FDA approved arsenic trioxide as an effective treatment for a rare type of leukaemia.

But it’s too soon to start recommending arsenic as a potential breast cancer treatment – the team is now designing clinical trials to see whether arsenic could help patients with advanced breast cancer.

“We do not know if the treatment will work, but carefully designed clinical trials should take place as soon as possible based on this new evidence,” Smith said in the release.

Source: University of California, Berkeley

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Our Aversion to “Alternative” Healing:

The mere mention of “alternative” medicine seems so alien and obscure that we tend to shun away anything and everything that mentions it.  Now, I am not here to point out to the basic human fallacies of ignorance and intolerance for new or curious concepts, but rather wish to open and broaden our horizons, by sharing some personal experiences about some alternative medicines.

Acupressure- Relieving Stress through Pressure Points

When it comes to our physical and spiritual health, we should not limit ourselves in knowledge and the exploration of possibilities. And given the fact that each of us is different, with specific needs, mindsets and perceptions –it is rather impossible to one golden solution that fits all. We owe it to ourselves to listen to our bodies and hearts, and find that which is suitable for our needs.

We Do Try to Heal Ourselves:

Even though we stick to conventional medicines and sometimes become doctors ourselves, it is impossible that none of us have, at some point in our lives, experimented with alternative natural medicines. We all have had colds that we fixed with granny recipes, or what have you. And most of all, we’ve all had pains and aches that we tried to cure ourselves. But then yet, when it comes to neck pain or back pain, it proves to be a challenge to massage ourselves, so we mostly just go to a doctor and take a painkiller which will resolve the symptom.

Acupressure: Pressing the Right Buttons

I believe we could not only treat the symptom of pain, but also remove the source of said pain, if we really knew the exact points that provide us relief. We have found our “sweet” spots but having knowledge of medical science that works on these principles, opens avenues of self healing that we never thought possible. One such ancient science is the science of Acupressure. Though acupressure sounds like acupuncture, but this one doesn’t involve needles, so you’re in the clear, in case you can’t imagine being pricked. Acupressure is a technique that is centered on core philosophies of energy, flow, trigger points or acupoints. It is the practice of releasing your body from imbalance, by applying pressure on specific points in your body that are responsible with holding bad energy.

By applying the right amount of pressure in the right way, on the right spots, Acupressurists can reestablish relief within those meridians (or energy channels), in your body that are clogged, using finger pressure or specific instruments. Imagine that you hold in your body certain points of energy that are now blocked and have formed a lump of negative damaging energy. They are made of stress, and by applying acupressure correctly, you can exorcise those black, damaging lumps of chronic stress. It’s like a guided and precise massage therapy.

De-stress Through Healing:

You may find that stress is an integral part, if not essential, of your life and sadly your ailments. By relieving your damaged, pained areas from stress, your body will thank you and your muscle memory will remember the good you did for it, and reward you with relaxation and strength. You might find channels and means to rid of this yourself but once in a while if you need to restart your energy flow in your body, I suggest you try some acupressure, and see if it can help you.

watch the video.URL:https://www.youtube.com/watch?v=Orkrm_JIBlg

What Rare Disorder Is Hiding in Your DNA?


As comprehensive genetic tests become more widespread, patients and experts mull how to deal with unexpected findings

Last spring Laura Murphy, then 28 years old, went to a doctor to find out if a harmless flap of skin she had always had on the back of her neck was caused by a genetic mutation. Once upon a time, maybe five years ago, physicians would have focused on just that one question. But today doctors tend to run tests that pick up mutations underlying a range of hereditary conditions. Murphy learned not only that a genetic defect was indeed responsible for the flap but also that she had another inherited genetic mutation.

This one predisposed her to long QT syndrome, a condition that dramatically increases the risk of sudden cardiac death. In people with the syndrome, anything that startles them—say, a scary movie or an alarm clock waking them from a deep slumber—might kill by causing the heart to beat completely erratically.

Doctors call this second, unexpected result an “incidental finding” because it emerged during a test primarily meant to look for something else. The finding was not accidental, because the laboratory was scouring certain genes for abnormalities, but it was unexpected.

Murphy, whose name was changed for this story, will most likely have plenty of company very soon. The growing use of comprehensive genetic tests in clinics and hospitals practically guarantees an increasing number of incidental discoveries in coming years. Meanwhile the technical ability to find these mutations has rapidly outpaced scientists’ understanding of how doctors and patients should respond to the surprise results.

Unknown Unknowns
Incidental findings from various medical tests have long bedeviled physicians and their patients. They appear in about a third of all CT scans, for example. A scan of the heart might reveal odd shadows in nearby lung tissue. Further investigation of the unexpected results—either through exploratory surgery or yet more tests—carries its own risks, not to mention triggering intense anxiety in the patient. Follow-up exams many times reveal that the shadow reflects nothing at all—just normal variation with no health consequences.

What makes incidental findings from genetic tests different, however, is their even greater level of uncertainty. Geneticists still do not know enough about how most mutations in the human genome affect the body to reliably recommend any treatments or other actions based simply on their existence. Furthermore, even if the potential effects are known, the mutation may require some input from the environment before it will cause its bad effects. Thus, the presence of the gene does not necessarily mean that it will do damage. Genetics is not destiny. In Murphy’s case, her mutation means that she has a roughly 50 to 80 percent chance of developing long QT syndrome, and the presence of the mutation alone is not a sure indicator she will be afflicted, says her physician, Jim Evans, a genetics and medicine professor at the University of North Carolina School of Medicine. To be safe, he has advised her to meet with a cardiac specialist to talk about next steps, including possibly starting beta-blocker drugs to regularize her heart rate.

The incidence of hard-to-interpret results is expected to rise because the cost of surveying large swaths of the genome has dropped so low—to around $1,000. It is typically less expensive to get preselected information about the 20,000 or so genes that make up a person’s exome—the section of the genome that provides instructions for making proteins—than to perform a more precision-oriented test that targets asingle gene. As a consequence, scientists and policy makers are now scrambling to set up guidelines for how much information from such testing to share with patients and for how best to help them deal with the inevitable incidental findings.

Before making any definitive recommendations, however, they need to know how often genetic results produce such findings. To that end, Evans is heading up the NCGENES clinical trial, part of a larger effort by three organizations, including the University of North Carolina School of Medicine. Of the roughly 300 patients who have received genetic information since Evans started ordering whole exome tests a couple of years ago, he says, six of them (or 2 percent) had incidental findings that required further testing or decisions about treatment.

Separately, Christine Eng, medical director of the DNA Diagnostic Laboratory at the Baylor College of Medicine, says her team has conducted more than 2,000 whole exome tests since October 2011 with about 95 incidental findings. “That’s an incidence of about 5 percent,” she notes. Most of the findings did not require immediate action. Usually they prompt more frequent screening tests, often for breast cancer or colorectal cancer.

Balancing Act
In the hope of minimizing the number of people forced to cope with incidental findings, the American College of Medical Genetics and Genomics (ACMG) in 2013 proposed regularly returning results on 56 genes from comprehensive genetic tests. The professional group felt that there was enough—though by no means conclusive—information about these specific mutations to merit letting patients know if they had tested positive for them. In other words, the mutations “met a standard of relatively high likelihood of being disease-causing.” The list included genetic variants that have been strongly linked to retinoblastoma (cancer of the eye), hereditary breast cancer and long QT syndrome. The ACMG believed that its guidance would give physicians a shortcut so they would not need to haphazardly guess which mutations had a strong enough link to a given malady to tell patients about the results.

Such advice is particularly important given how often children undergo genetic tests nowadays. “About 80 percent of our cases are pediatric-aged, so the incidental findings are being found in the children, and many of the conditions are adult-onset conditions,” Eng says. Families given such information about their children then may have to wait decades before they can do anything about it or decide when, if ever, to start considering treatment for a disorder that may not ever develop.

Yet a year after issuing its guidance, the ACMG produced an addendum: patients should have the opportunity to opt out of having information about even that short list of analyzed genes. “When families are given a choice, a very large percentage of them want this information, but there are some individuals who feel they do not want this information, so I think this option is a good one,” says Eng, who was not on that decision-making board.

For her part, Murphy is still grappling with how to respond to her incidental finding. She is not yet 30, and she finds it hard to imagine being young and carefree and on beta blockers. “Generally, I’m a very healthy person. I was doing just fine until now, so why does it matter that I found this out?” she asks. “I’ve been giving it a lot of thought, and if I hadn’t gotten [the test] done, I might never have known about this. Now I’m wondering if I really want a lifestyle change. It’s a lot to think about.” Yet the hope is that Murphy’s experience, and those of other patients, will help geneticists decide which tests to include in future gene scans and better prepare patients and health care workers for dealing with any unwelcome surprises.

The Best Gene Screen
Information about most rare genetic mutations is so uncertain as to be meaningless. As a result, geneticists recommend testing only for genes that clearly increase the risk of developing certain conditions. A list of these ailments and their associated genes appears below.

Cancers and Precancerous Conditions

  • Familial adenomatous polyposis—APC
  • Familial medullary thyroid cancer—RET
  • Hereditary breast and ovarian cancer—BRCA1, BRCA2
  • Li-Fraumeni syndrome—TP53
  • Lynch syndrome—MLH1, MSH2, MSH6, PMS2
  • Multiple endocrine neoplasia type 1—MEN1
  • Multiple endocrine neoplasia type 2—RET
  • MYH-associated polyposis and related conditions—MUTYH
  • Peutz-Jeghers syndrome—STK11
  • PTEN hamartoma tumor syndrome—PTEN
  • Retinoblastoma—RB1
  • Von Hippel–Lindau syndrome—VHL
  • WT1-related Wilms tumor—WT1

Heart and Vascular Disorders

  • Arrhythmogenic right ventricular cardiomyopathy—PKP2, DSP, DSC2, TMEM43, DSG2
  • Certain other cardiomyopathies—MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA
  • Catecholaminergic polymorphic ventricular tachycardia—RYR2
  • Ehlers-Danlos syndrome (vascular type)—COL3A1
  • Long QT syndromes and Brugada syndrome—KCNQ1, KCNH2, SCN5A
  • Marfan syndrome and related conditions—FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11

Noncancerous growths

  • Hereditary paraganglioma-pheochromocytoma syndrome—SDHD, SDHAF2, SDHC, SDHB
  • Neurofibromatosis type 2—NF2
  • Tuberous sclerosis complex—TSC1, TSC2

Other

  • Familial hypercholesterolemia—LDLR, APOB, PCSK9
  • Malignant hyperthermia susceptibility—RYR1, CACNA1S