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May 27, 2017 Micrograph showing a lymph node invaded by ductal breast carcinoma, with extension of the tumour beyond the lymph node. Credit: Nephron/Wikipedia

Ashkenazi Jewish women are known to have a predisposition to the inherited breast cancers BRCA1 and BRCA2, but currently genetic testing in this group is limited to women affected by breast and ovarian cancers and those who are unaffected but have a family history of the disease.

Ms Sari Lieberman, a genetic counsellor at the Shaare Zedek Medical Centre, Jerusalem, Israel, will tell the annual conference of the European Society of Human Genetics tomorrow (Sunday) that offering open-access BRCA testing to Ashkenazi women unaffected by cancer, regardless of their family history, enables the identification of carriers who would otherwise have been missed. Carrying one of the mutations for the BRCA genes means that women affected have a 50-80% risk of developing breast cancer and a 20-50% risk for ovarian cancer.

"We knew that half of these carriers have no family history of cancer, and therefore would not have been identified had the test been offered on the current personal and family history criteria," she says. "As a genetic counsellor, it is frustrating and saddening to see the results of this policy, where patients are often only identified as BRCA carriers once they have been diagnosed with cancer."

The researchers streamlined the pre-test process so that traditional genetic counselling, which can be time-consuming and difficult, was excluded. Instead they provided written information about the BRCA genes, the genetic test, and about the implications of being a carrier.

"Current strategies for testing focus on women who are 50 and older, which is not the optimal age for effective prevention. In order to address this, we would like to continue this study and look for other approaches that could include younger women," says Ms Lieberman.participants in the study either referred themselves or were recruited by health professionals. Two-year follow up of the 1771 women tested included looking at psychosocial outcomes and health behaviours. Both groups reported a high level of satisfaction (94%) and low stress. Those who had referred themselves tended to be more knowledgeable about breast cancer issues than those who were recruited.

"Among the 25 women carriers we identified, 94% expressed satisfaction and 92% endorsed the idea of population screening. Their stress was understandably higher, but it declined over time, and their knowledge was greater than in non-carriers. All of them had breast surveillance, and three underwent risk-reducing bilateral mastectomy. Of those aged over 40, fifteen out of a total of 16 had their ovaries and Fallopian tubes removed in order to reduce risk," Ms Lieberman reports.

The researchers say that their study provides convincing evidence that open access genetic testing overcomes major barriers; not just lack of family history, but also referral and bureaucratic barriers, and that it is acceptable to those likely to be affected and their families.

"We were concerned that 'low risk' participants, with no family history, might not be able to cope with being offered BRCA testing and particularly with positive test results. We also worried that being found not to be a carrier might provide false reassurance and cause women to think they had no cancer risk and therefore avoid standard surveillance. We were pleasantly surprised on both counts," Ms Lieberman will say. In fact, mammography screening rates did not decline post-test in non-carriers, and even increased in some.

Falling prices for genetic sequencing and new techniques to avoid evaluating irrelevant gene variants will most likely make mutation screening available to wider populations in the near future. "We believe that our results are useful and highly relevant for other populations. On a personal note, I hope that this new approach means that one day I will not have to counsel someone with no family history and therefore no awareness of increased risk who says to me that she only wished she had known before," Ms Lieberman will conclude.

Chair of the ESHG conference, Professor Joris Veltman, Director of the Institute of Genetic Medicine at Newcastle University, Newcastle, United Kingdom, said: "This important study highlights the importance of population-wide genetic screening to identify women at risk of developing breast and ovarian cancer because of a genetic predisposition. The study also showed that most people cope very well with this genetic information; carriers of these mutations undertake breast cancer surveillance, whereas non-carriers are aware they can still develop breast cancer.''

Explore further: Significant increase in number of women tested for BRCA gene, but many high-risk patients still missing out

Discovery of the BRCA genetic mutation in the mid-90s represented a breakthrough in breast and ovarian cancer prevention. About 5-10% of breast cancer cases and 10-18% of ovarian cancer cases can be attributed to two BRCA ...

Research looking at genomic data from women with a genetic risk for breast cancer, who may never develop cancer, found their cancer-free state may be related to a second genetic variation. Researchers at the George Washington ...

Professor Kelly Metcalfe, of U of T's Lawrence S. Bloomberg Faculty of Nursing, is leading the charge against hereditary breast and ovarian cancers by helping establish the standard protocol for addressing cancers associated ...

The genes BRCA1 and BRCA2 play a significant role in hereditary breast and ovarian cancers. Recent media attention has focused on American actress Angelina Jolie's decision to have her ovaries and fallopian tubes surgically ...

(HealthDay)The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of having BRCA mutations.

Women who are members of families with BRCA2 mutations but who test negative for the family-specific BRCA2 mutations are still at greater risk for developing breast cancer compared with women in the general population, according ...

Ashkenazi Jewish women are known to have a predisposition to the inherited breast cancers BRCA1 and BRCA2, but currently genetic testing in this group is limited to women affected by breast and ovarian cancers and those who ...

Melanoma is a particularly difficult cancer to treat once it has metastasized, spreading throughout the body. University of Illinois researchers are using chemistry to find the deadly, elusive malignant cells within a melanoma ...

Earlier this week, for the first time, a drug was FDA-approved for cancer based on disease genetics rather than type.

A team led by Johns Hopkins researchers has discovered a biochemical signaling process that causes densely packed cancer cells to break away from a tumor and spread the disease elsewhere in the body. In their study, published ...

Swiss scientists from the University of Geneva (UNIGE), Switzerland, and the University of Basel have created artificial viruses that can target cancer. These designer viruses alert the immune system and cause it to send ...

All cancer tumors have one thing in common - they must feed themselves to grow and spread, a difficult feat since they are usually in a tumor microenvironment with limited nutrients and oxygen. A study at The University of ...

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Open-access genetic screening for hereditary breast cancer is ... - Medical Xpress

Receiving a diagnosis in 2017 at least one made at a medical center outfitted with the latest clinical gadgetry might include a scan that divides your body into a bread loaf of high-resolution digital slices. Your DNA might be fed through a gene sequencer that spits out your mortal code in a matter of hours. Even your smartphone might soon be used to uncover health problems.

Yet nearly 130 years since its inception after decades of science has mapped out our neuronal pathways a simple knob of rubber with a metal handle remains one of medicine's most essential tools. I'm referring to the cheap, portable, easy-to-use reflex hammer.

This unassuming device can be invaluable in diagnosing nervous and muscular disorders, and in determining whether a patient's pathology lies in the brain or elsewhere in the body. It can also help curtail healthcare spending by preventing unnecessary, often expensive testing. Yet like so many major medical and scientific discoveries, the reflex hammer has humble origins, in this case: the basement of a Viennese hotel.

The inn was run by the father of Leopold Auenbrugger, an 18th century doctor who is considered to be among the founders of modern medicine. To gauge how much wine was left for customers, hotel employees would thump casks with their hands and listen for a dull thud or hollow tympany. Auenbrugger realized that the same technique now called "percussing" could be applied to the human torso to, say, determine how much fluid had built up around a diseased heart. He wrote as much in his 1761 paper New invention to detect diseases hidden deep within the chest.

Relflex hammer warfare

Thought to be more accurate than the human hand, it wasn't long before percussion hammers were being designed to more precisely diagnose disease. Competition ensued.

Scottish physician Sir David Barry's model, released in the 1820s, was the first. German doctor Max A. Wintrich's came shortly after and was more popular, but was not without its critics: "[Wintrich's hammer] is inconvenient to hold, it is rigid ... it required education to use it, and even then it does not fulfill its purposes," a rival inventor commented.

As neurologist Dr. Douglas J. Lanksa wrote in a 1989 paper on the many types of reflex hammers, "Some were T-shaped or L-shaped, others resembled battle axes, tomahawks, or even magic wands." He adds that no material was off limits: wood, ebony, whale bone, brass, lead, even "velvet-covered worsted" (a type of yarn).

As percussion hammer warfare waged on, doctors and scientists were also beginning to understand the concept of reflexes, or involuntary, near-immediate responses to stimuli that occur before any sensory information reaches the brain. Muscular jerks. Blinking. Sneezing. Gagging. All of these are automatic feedback loops between sensory and motor neurons that help us navigate our environment and protect us from danger.

In 1875, German neurologists Drs. Heinrich Erb and Carl Friedrich Otto Westphal were among the first to realize that eliciting a reflex by briskly tapping the tendons of major muscles might be useful. They felt the knee jerk or "patellar-tendon" reflex in particular could help assess nerve function.

Hammers specifically suited to test reflexes were soon developed, the first of which had the now classic shape we're accustomed to a thin metal handle with a triangular rubber head. Designed by American physician John Madison Taylor in Philadelphia in 1888 and modified ever since by many the simple device was heavy enough to elicit reflexes, and had round edges to ease impact. An entry level model runs just $2.25 on Amazon.

The Krauss hammer, developed by German-American physician William Christopher Krauss, was designed around the same time. It had two rounded heads: a large one for knees and a smaller one for biceps. Dr. Ernst L.O. Trmner's did too, but it also tapered to a thin end to assess skin reflexes. There were also the Queen Square hammer, the Babinski hammer, the Buck hammer and the Berliner hammer. The Stookey hammer flaunted a camel hair brush to get a better sense of touch sensation. The list goes on.

Past to present

Daniella C. Sisniega is a third year medical student at the Boston University School of Medicine. Last month at the American Academy of Neurology's annual meeting, she presented a poster explicating the reflex hammer's past.

"I'm fascinated by how the reflex hammer started out as a percussion hammer, but was [then] adapted to elicit reflexes and has been in every neurologist's tool box ever since," she told NPR. "I also did not know that the little rubber triangle was the first reflex hammer. I feel like I owe it an apology!"

Sisniega jokes about the lackluster quality of the inexpensive Taylors.

"The little tomahawk is included in the kit everyone receives when they enter medical school," she recalls. "The rubber is cheap and very light, while the other hammers are heavier on the head so that you can use the 'swing' of the hammer as opposed to the strength of the strike to test the reflex."

While attending the AAN conference myself, I asked multiple sclerosis expert Dr. Stephen Krieger about the role of the reflex hammer in modern medical diagnosis.

"We could argue about the nuances of the hammer the Queens Square, the Tomahawk, plastic handle, metal handle, weighted, flexible or rigid but the hammer itself is always in the hand. Reflexes tell the story of neurologic diseases of all sorts," he says.

Krieger explains how disorders of the brain, like a stroke or brain tumor, result in hyperactive reflexes, while conditions affecting muscles and peripheral nerves usually result in reduced or non-existent reflexes. Reduced reflexes are, for example, a common symptom of back pain due to degenerative disk disease.

Dr. Andrew Wilner, an assistant professor of neurology at the Mayo Clinic, recounted the story of one of his patients, who had back pain, weakness and numbness of the legs. Wilner was leaning toward a diagnosis of either Guillain-Barre Syndrome (GBS) an autoimmune disorder of peripheral nerves or a myelopathy, an injury of some kind to the spinal cord. Both conditions can lead to medical emergencies, but each requires drastically different treatment.

"The reflex hammer was arguably our most important tool in narrowing down the differential diagnosis," he says. "Had we found diminished or absent deep tendon reflexes, GBS would have been more likely. As it turned out, the patient had brisk pathological knee jerks, pointing to a lesion in the brain or spinal cord."

Based on these findings, Wilner ordered an imaging study of the patient's spinal cord, where a lesion was found as opposed to pursuing the costly tests involved in a GBS diagnosis.

Wilner feels that the simple art of interviewing and examining a patient can get overshadowed by the myriad new diagnostic technologies. When it comes to clinical tools, he feels, sometimes basic is better.

"Technology is glorious," admits Krieger, "and [it] will teach us things about patients that we could never have known or imagined. But the simple, elegant, inexpensive almost plebeian swing of the reflex hammer has a cost/benefit ratio that I think no advanced technology will likely ever match."

Bret Stetka is a writer based in New York and an editorial director at Medscape. His work has appeared in Wired and Scientific American, and on The Atlantic.com. He graduated from the University of Virginia School of Medicine in 2005. He's also on Twitter: @BretStetka

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In The Age Of Digital Medicine, The Humble Reflex Hammer Hangs On - WXXI News

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Rare Gene Mutations Inspire New Heart Drugs - New York Times

En route to Dallas and just an hour out of Arkansas, Lesley Murphy got a call.

She had been tested about a week before for a genetic mutation that would make her more susceptible to breast and ovarian cancer. And, as it turned out, she had the mutation.

She didn't have either cancer, but, at 29, she found herself weighing her options: go in every six months for screenings, take medicine or undergo a preventive double mastectomy. She had some three hours to go to get to Dallas, where, coincidentally, she had an appointment with her gynecologist.

"I spent a lot of that -- probably at least an hour and a half -- telling nobody," Murphy said. "I was like listening to music and just thinking."

Studies have found that more women are choosing preventive mastectomies. Actress Angelina Jolie drew attention to the procedure in 2013 when she had a mastectomy after learning of her susceptibility to breast and ovarian cancer. The studies vary in the rates of women undergoing the surgical procedure, but most show percentages now in the low teens compared with the 2 percent to 4 percent range in the late 1990s and early 2000s.

Mastectomies can reduce breast cancer recurrence to 1 percent, said Dr. Daniela Ochoa, a breast surgical oncologist at the University of Arkansas for Medical Sciences, Little Rock.

"We take out all the breast tissue that we can see and identify grossly and anatomically with our eyeballs, but we can't say that at a teeny tiny cell level, we got every cell," she said. "So that's why we can't completely eliminate the possibility that there may be something down the road, but it's certainly the most aggressive thing that you could do to decrease your risk."

Murphy's test results came nearly three years after her mother, Martha Murphy, was diagnosed with breast cancer. An unlikely candidate, Martha Murphy had no cancers in her family history, was healthy, exercised regularly, ate well. Unable to come to terms with the diagnosis, she eventually got a genetic test -- the first in her family -- showing she, too, had the genetic mutation, called BRCA-2, predisposing her to breast and ovarian cancers.

In short order, Martha Murphy opted for a double mastectomy, a reconstruction and later an oophorectomy, the removal of the ovaries.

Her two other daughters took a genetic test later that year: one had the mutation, the other didn't. Lesley Murphy would be the tiebreaker.

Bachelor, Argentina

A Fort Smith native, Lesley Murphy graduated from the University of Georgia and worked in Atlanta and Washington, D.C. In the nation's capital, she took a hiatus from her job at a Democratic consulting firm to compete with 25 other women on ABC's show The Bachelor. She didn't find love on the show.

But after the television stint, Lesley Murphy moved to Argentina with her boyfriend at the time and worked as a marketing manager for a luxury hospitality company. She had been thinking of ways to take advantage of her following -- she has 66,284 followers on Twitter, 224,000 on Instagram and 7,652 on Facebook -- from the show, and nothing had come together, she said.

She spent her time there traveling throughout South America, documenting her travels along the way. She decided to trade in her job to be a professional travel blogger, living out of a suitcase -- albeit, a large one.

On March 10, 2014, Lesley Murphy was in her Argentina apartment when her mom and dad called, breaking the news of Martha Murphy's diagnosis.

The parents reassured their three daughters that Martha Murphy found the tumor early and all would be OK. She had consulted two doctors, both of whom had recommended surgery to remove the tumor and 30 rounds of radiation. One of the doctors, an oncologist and family friend, also had recommended a genetic test.

For Martha Murphy, finding the genetic mutation was like finding a needle in a haystack, said Dr. Kent McKelvey, the director of Adult and Cancer Genetics Services at UAMS.

"It would be like, you know, you're sitting in the cancer institute, and there's a lot of rooms in the cancer institute," he said. "You know in one of the rooms, there's the needle that you're looking for. In her mom, we looked through every room, and we found where the needle was."

Martha Murphy tested positive for the BRCA-2 gene mutation.

Days later, with two months until her oldest daughter's wedding, she had a double mastectomy at UAMS. By the May 31, 2014, wedding, she was on the dance floor.

hereditary risk

If an average woman has an 11 percent risk of breast cancer, those with BRCA-1 may have up to eight times the risk, and those with BRCA-2 have about four or five times the risk, McKelvey said.

Cancer occurs because of changes in DNA, which happen because of bad luck, environmental exposures or heredity, said McKelvey, also an associate professor in UAMS' College of Medicine. Most patients get it because of a combination of bad luck and environmental exposures, including hormone-replacement therapies for post-menopausal symptoms and lifestyle choices, such as not eating well, said Ochoa, the breast surgeon.

In Lesley Murphy's case, the major risk factor was hereditary, McKelvey said.

Genetic tests -- like those the Murphys took -- have increased over the years: just over 1,000 tests were ordered in 2012, and now the number is closer to 50,000 a year, according to the Genetic Testing Registry. Some companies are now offering genetic tests for a slew of predispositions, though McKelvey had a warning.

"You don't just order a genetic test because there are implications for you, for your future health care and for your family," he said. "People need to know what they're getting. I'd say it's important to have pre-test counseling and post-test counseling."

UAMS is the only health care facility that offers cancer genetics in the state -- hundreds of genes are predisposed to about 50 cancer syndromes, he said -- and McKelvey's office includes genetic counseling. One of his genetic counselors called Lesley Murphy on her drive to Dallas in mid-February this year, confirming the gene mutation and setting another appointment with McKelvey nearly two months later.

Hers had been an easier find because they knew what to test for and where to find it, McKelvey said.

Thinking over her options, Lesley Murphy ruled out the regular screenings -- getting a breast MRI every six months and a mammogram every six months -- almost immediately.

She figured she could have the procedure done at any time. But once she got to her gynecologist's appointment in Dallas, the doctor said, "You do not have to do this, but in my mind, what's the point of hanging on to something that's potentially very cancerous?"

Lesley Murphy thought it over for a few more days: she would be gone all of March for work, and the gynecologist was right. She called McKelvey's office to schedule an earlier appointment. Afterward, she marked April 11 as the date for her first-ever surgery.

She spent March traveling to Colorado, the United Kingdom, Finland and Canada. She worked out and did yoga.

On March 8 -- International Women's Day -- on "a horrid eight-hour layover in Germany," she shared with the world her genetic test results.

"I wanted to be a voice for other people who were going through the same thing," she said," even just thinking about it or even just starting the conversation for families or a friend to get tested."

She prepared herself mentally, and before she knew it, it was April 11.

"I remember going to sleep that night and getting pretty sentimental because it was my last night with the old me," she said, "and the next day was going to be completely different."

3-month process

The procedure takes out the breast tissue down to the pectoral muscle, said Ochoa, the breast surgeon and assistant professor in UAMS' College of Medicine. Expanders and implants go underneath the muscle, and some -- if not all -- of the skin is saved for the reconstruction, a three-month process, she said.

"So when you wake up after the first surgery, it's not your final outcome and your final volume. It's not completely flat in what we otherwise would have without a reconstruction," Ochoa said. "They gradually fill up the expander, get up to the size that you're ultimately shooting for, and then there's a second surgery where they come in, switch out the expander to the permanent implant. The permanent implant is when you pick whether you want saline or silicone, kind of what size you're shooting for."

At UAMS, surgeons perform preventive mastectomies, but more often than not, patients find out they have the BRCA gene once they have already been diagnosed with breast cancer, Ochoa said. She added that most cancer patients end up with the disease because of either bad luck or environmental factors, not for hereditary reasons.

Lesley Murphy woke up around 3 p.m. April 11, after some seven hours in surgery. She vividly remembered -- "how could I forget the feeling" -- first feeling pain when she was moved from one bed to another.

"Realization set in on what road was ahead," she said. "I remember my dad was driving me home from the hospital the day after surgery, and I was so nervous because even in the wheelchair from my hospital room to [the first floor], every little crack you would go over, you would feel it."

Her mom, who had been by her side through all the doctor appointments, slept by her side for the first couple of nights. She couldn't sit up in bed or easily get up to use the bathroom. She needed help getting dressed in the mornings. She didn't like being in the same position for too long.

But, day by day, she started to feel more normal.

By May 6, she was lying on her stomach, spending time in the sun and working out, though, she said, she may have cheated on the last one by a bit.

And on May 11 -- a month after her surgery -- she posted on social media a thank-you note to her supporters, who she said helped ease her recovery, and wrote that she hoped she has helped others in a similar situation.

"Knowledge really is power," she said in an earlier interview. "It's been a wash of emotions, but I think this is a story of empowerment."

Metro on 05/28/2017

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One genetic test transforms a life - Arkansas Online