Category Archives: Gene Medicine

While much of the excitement surrounding precision medicine focuses on using genomics to tailor personalized treatment plans, speakers at the Precision Medicine Summit said theres more to it.

We cannot achieve precision medicine without having everyone be a participant and benefit and understand, said India Barnard-Hook, director of strategy and associate director of precision medicine at University of California, San Francisco. Precision medicine is about much more than genomics.

Social determinants of health, for instance, typically occur outside the healthcare system and have a significant impact on both health and individual outcomes.

You have to know a lot more than the clinical phenotype, said Linda Chin, chief innovation officer for health affairs at The University of Texas Health System.If you understand all the other factors that contribute to diseases, those can alter the course of the disease and ultimately prevent it.

Penn Medicine associate vice president of health technology and academic computing Brian Wells even made the bold prediction that genetic sequencing may become less relevant as cancer treatments become increasingly sophisticated.

If we discover one immunotherapy that applies to all cancers, we really dont need to sequence your genome anymore, Wells said. Were at a tipping point and sequencing could become less important.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:With precision medicine, social determinants could be more insightful than genetics

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Will patients' lifestyles become more important to precision medicine than gene sequencing? - Genetic Literacy Project

A local family physician is taking much of the guesswork out of patient treatment with the help of drug-gene testing that determines how a persons genes affect their bodys response to medications.

The testing is also known as pharmacogenetics, a combination of the words pharmacology (the study of the uses and effects of medications) and genomics (the study of genes and their functions).

Dr. Monnie Singleton of Singleton Health Center in Orangeburg has been using pharmacogenetics testing for nearly a year to determine safe and effective medications and doses that will be tailored to a persons genetic makeup.

Pharmacogenetics testing is a revolutionary means of checking to see how patients are metabolizing the medications that they are taking. So were looking specifically at how a medication is metabolized by an individual, Singleton said.

He said drugs dont work the same for everyone and while it can be difficult to predict who will benefit from a medication, who will not respond at all and who will experience adverse drug reactions, the testing helps him eliminate the trial-and-error associated with prescribing medications.

This technology eliminates the need for us to just keep guessing at what might be the right medicine in an individual patient. I think as we move forward, were going to be looking specifically to see if the genetics in patients DNA makeup will allow proper metabolism of that drug, he said.

Singleton added, If the drugs arent metabolized normally, what we see in many people is that either not enough or too much enzyme is produced. If not enough enzyme is produced to metabolize the amount of medication the patient is taking, the patients blood levels of that drug will increase to the point of becoming toxic and them getting side effects and other adverse drug reactions.

If a person is manufacturing or making too much of the enzyme, then the medicine doesnt stay in their system long enough to work and it is being metabolized too rapidly.

Enzyme is a substance produced by a living organism that acts as a catalyst to bring about a specific biochemical reaction.

A small blood or saliva sample can help determine whether a medication may be an effective treatment for patients.

Singleton said a sponge is used to swab a patients mouth. The specimen is then shipped off for testing to Lawrenceville, Georgia-based, Alpha Genomix Laboratories, a molecular diagnostics laboratory dedicated to providing personalized patient care. Lab pesonnel look for changes to one or more genes that can affect a patients response to certain medications.

Singleton said a printout of an individual patients lab results are then sent back to his office.

We are testing for 26 different enzymes, or metabolic pathways, with this technology, he said.

Itll give a printout of several different classes of drugs. Whether that patient is taking drugs in that other class or not, it will still give a report as to whether a patient would metabolize it normally or not. So if a different medication needed to be prescribed for a different condition in the future, we could look at that list and see exactly what would be the best medication to start with, Singleton said.

The physician said 60 percent of his patients are on Medicare or Medicaid, both of which pay 100 percent of the testing cost.

The private insurances are beginning to pay for it, but they are not paying for it 100 percent, Singleton said.

What I have seen and have better come to understand is that 40 percent of the time, the antidepressants that are used with that trial-and-error method are the wrong medication. Using this guided therapy, or looking at the results of pharmacogenetics testing, allows me to select an antidepressant that the patient metabolizes normally," he said.

I select that medication to begin with and as a result, people get better quicker," Singleton said. "Ive certainly seen that in the area of depression. I have also seen it in the area of arthritis, gastroesophageal reflux disease and even when prescribing the statins for elevated cholesterol."

Patients who have had adverse drug reactions in the past and those who are taking five or more medications are among those who are recommended for pharmacogenetics testing, he said, noting that family members of patients who may not have had a good response to a medication may also be provided recommendations to see if they may benefit from testing.

Singleton said the testing is worthwhile and needed because it costs the federal government in excess of $3.5 billion a year to treat adverse reactions to drugs.

Forty percent of these adverse reactions are estimated to be preventable," he said.

I would say the overwhelming majority of the patients that we have talked to about the technology have elected to have the test done," Singleton noted. "On average, were having to make some change in a medication that the patient has been taking 30 percent of the time."

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Physician using pharmacogenetics to determine best medications for individual patients - The Times and Democrat

According to a study published in the journal Frontiers in Immunology, mind-body interventions such as mindfulness, yoga, Tai Chi, Qigong, relaxation response, and breath regulation dont simply relax us, they can reverse the molecular reactions in our DNA which cause ill-health and depression.

Ivana Buric et al analyze how the behavior of our genes is affected by different MBIs including mindfulness and yoga. Image credit: Nato Pereira.

When a person is exposed to a stressful event, the sympathetic nervous system the system responsible for the fight-or-flight response is triggered, in turn increasing production of a molecule called nuclear factor kappa B (NF-kB) which regulates how our genes are expressed.

NF-kB translates stress by activating genes to produce proteins called cytokines that cause inflammation at cellular level a reaction that is useful as a short-lived fight-or-flight reaction, but if persistent leads to a higher risk of cancer, accelerated aging and psychiatric disorders like depression.

However, people who practice mind-body interventions (MBIs) exhibit the opposite effect namely a decrease in production of NF-kB and cytokines, leading to a reversal of the pro-inflammatory gene expression pattern and a reduction in the risk of inflammation-related diseases and conditions, according to the study.

The inflammatory effect of the fight-or-flight response which also serves to temporarily bolster the immune system would have played an important role in mankinds hunter-gatherer prehistory, when there was a higher risk of infection from wounds, the authors said.

In todays society, however, where stress is increasingly psychological and often longer-term, pro-inflammatory gene expression can be persistent and therefore more likely to cause psychiatric and medical problems.

Millions of people around the world already enjoy the health benefits of mind-body interventions like yoga or meditation, but what they perhaps dont realize is that these benefits begin at a molecular level and can change the way our genetic code goes about its business, said lead author Ivana Buric, a PhD student at Coventry University, UK.

These activities are leaving what we call a molecular signature in our cells, which reverses the effect that stress or anxiety would have on the body by changing how our genes are expressed.

Put simply, MBIs cause the brain to steer our DNA processes along a path which improves our wellbeing.

More needs to be done to understand these effects in greater depth, for example how they compare with other healthy interventions like exercise or nutrition.

But this is an important foundation to build on to help future researchers explore the benefits of increasingly popular mind-body activities, Buric said.

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Ivana Buric et al. What Is the Molecular Signature of Mind-Body Interventions? A Systematic Review of Gene Expression Changes Induced by Meditation and Related Practices. Front. Immunol, published online June 16, 2017; doi: 10.3389/fimmu.2017.00670

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Study: Meditation, Yoga and Related Practices Can 'Reverse' DNA Reactions - Sci-News.com

The Scientist

New Antibiotic Resistance Genes Found in Soil Microbes The Scientist The particularly surprising result is the discovery of a gene that encodes for an unusual small proline-rich polypeptide that confers resistance to the macrolide antibiotics, very important in human and animal medicine, Topp says. Macrolide ...

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New Antibiotic Resistance Genes Found in Soil Microbes - The Scientist

Reviewed by Edwin M. Stone, MD, PhD

Though gene therapy technology already exists to treat most inherited retinal disease, the current challenge is to drive down the costs of implementing the technologythus availing more patients with the benefits of treatments and possibly prevent inevitable visual deterioration.

Edwin M. Stone, MD, PhD, recounted the case of a 14-year-old boy with an inherited eye disease who was born deaf and received bilateral cochlear implants during the first years of his life. The boys visual acuity levels were 20/25 and 20/32 in the right and left eyes, respectively. Despite good visual acuity, more recently, he had been having difficulty seeing in dim light.

A Goldmann perimetry evaluation showed normal responses to large, bright stimuli. However, there was some restriction at the 12e and 14e isopters, explained Dr. Stone, director, Stephen A. Wynn Institute for Vision Research, and professor, Department of Ophthalmology and Vision Sciences, University of Iowa, Iowa City.

A fundus examination showed that both discs were normal and the vessels were slightly constricted. Some pigmentation was present in the midperipheral retina.

Based on these findings, deafness at birth, and retinitis pigmentosa at the beginning of the second decade of life, the patient was given a diagnosis of type I Usher syndrome. Molecular testing showed the presence of the two most common mutations in the USH1C gene, i.e., Val72Val (a splice variant) and Thr78insC.

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Tapping gene therapy potential for inherited retinal diseases - ModernMedicine

He was a ruggedly handsome man in life: shirt unbuttoned, muscles rippling, cigarette dangling rakishly from his lips. He was unrecognisable in death: pinched, pale, almost skeletal. For those who knew him onscreen, there was shock and despair at the final terror of his illness. Vinod Khanna, one of the last screen titans of a generation, battled a lethal form of bladder cancer, resistant to chemotherapy, for six long years and finally succumbed on April 27. That very week, however, the world of science celebrated a "huge breakthrough": the discovery of a new drug based on malaria proteins that can dramatically reduce hard-to-treat bladder cancers.

Another breakthrough, another life. "It's finally here. A new ray of hope in the field of cancer. 'Nivolumab' for aggressive Hodgkin's lymphoma. Spread the word." Mamta Mohandas, 32, calls herself 'Actor. Singer. Survivor' on Twitter and posts messages of hope to her 495K followers. Her rising career graph in Malayalam and Telugu cinema, despite her seven-year-long fight against an aggressive lymph cancer, Diffuse Large B-Cell Lymphoma, is legend. Ever since she joined a clinical trial for an experimental drug in Los Angeles, USA, the southern beauty has been upbeat. "It's working for me," she informs her fans. "Brave girl", "love u", "jaldi aaja", they respond.

TIME OF BREAKTHROUGHS

It is the best of times, it is the worst of times, on the cancer front. Scientists continue to be baffled by the complexity and smartness of cancer cells: that they find ways to dodge even the most powerful therapies, that 'cancer' encompasses not one but hundreds of distinct diseases, that each individual cancer behaves differently, that two people with the same cancer, at the same stage, receiving the same treatment, can experience radically different outcomes. As US-based oncologist and Pulitzer-winning writer Dr Siddhartha Mukherjee says, "All cancers are alike, but they are alike in a unique way." With all that, cancer is catching up with heart disease as the leading cause of deaths globally, reports the World Health Organization. In India, the latest study based on the National Cancer Registry shows that there are 1.45 million new cases every year, a prevalence of over 3 million at any point of time, over 680,000 deaths a year. Although early detection saves lives, just 12.5 per cent Indians call on a doctor in the early stages.

But it's also a time of exceptional breakthroughs and innovations. No, there is no single death-defying magic bullet, but new generations of life-saving and life-extending 'smart drugs' are currently being developed and tested. At the root of all this is the idea that the cure for cancer is inside the patient. And the mantra in labs around the world is 'precision medicine'. That is, a line of treatment that is personalised to a patient's genetic make-up or molecular changes within one's tumour. Up until now, therapies have all been geared to treat cancer based on where it is located, say, in the breast, bladder or lung. Now, the shift is increasingly evident in finding precision medicine targeted at genetic glitches. On May 23, in a first, a cancer drug has won approval from the US Food and Drug Administration (USFDA) that can be given to anyone who harbours specific genetic abnormalities found in as many as 15 different types of cancers, all in patients for whom traditional treatment, like chemotherapy, has failed.

There has not been so much excitement as there is now since 2001, when one of the first cancer therapies to show the potential for targeted action, Imatinib, was approved. Thousands of clinical trials are humming with promising drug pipelines, many of which are being used by doctors to benefit patients. "It's an exciting time," says Dr Anil Suri, director of the National Institute of Immunology in Delhi and the man who discovered SPAG9, the cancer antigen to be used in India's first anti-cancer vaccine, now under phase II clinical trial in cervical cancer patients. "Cancer research is at the tipping point of major breakthroughs. Advances in molecular biology, next-generation gene sequencing, big data and innovative diagnostics are opening up a whole new world of possibilities."

THE PARADIGM SHIFTS

The war on cancer is now looking within, at the patient's own arsenal of weapons: genes, molecules and the immune system. The conventional regimen of surgery-radiotherapy-chemotherapy is slowly but surely giving way to targeted, personalised treatments and more intricate diagnostic tools. Combination therapies to keep cancers in check are being worked upon. The emerging field of cancer immunotherapy, or using the body's own immune system to help fight off the disease, is especially promising. Of the 30 new drugs for more than a dozen different types of cancers approved by the USFDA in the past one year, almost all are in immunotherapy. Indian scientists, too, are engaged in the battle to unlock the answers on how to prevent, detect and treat patients, in the best example of 'Make in India'.

A paradigm shift is taking place, with the approach moving toward a regimen where cancer may not have to be cured, but controlled, say, like diabetes or heart disease, explains Dr Mammen Chandy, director of Tata Medical Centre, Kolkata, and chair of the Human Genome Task Force of the department of biotechnology (DBT), Union ministry for science and technology. "With greater knowledge of the molecular genetics of cancer, we can study genetic mutations in a patient and target these with specific drugs," he says. A whole range of new drugs today can shrink and kill cancer cells without collateral damage. "We can precisely quantify the extent of the disease at diagnosis with better imaging techniques." The precision and accuracy of radiation technology make it possible to hit tumours with minimal damage to surrounding normal cells. "In several cancers, a patient can now pop a pill a day and live a normal life for many years. We are, thus, converting cancer into a chronic disease that one can live with."

LANGUAGE OF GENES

ATCG. ATCG. AGGCCTT. Oops, a typographical error. A tiny mistake can change the meaning of a sentence. What if there's a typo in your genes? Imagine a social network humming in each of your 37.2 trillion cells, with up to 100,000 genes talking to each other in a chemical code of four letters, A, T, C and G-to post, copy, tweak, repeat, adapt, modify messages and instructions constantly-for you to function. The proofreading tools inside cells correct some typos, junk many, but some get overlooked. And they fester. Like fake news on social media, they spread lies, sending wrong signals to other cells giving rise to a series of mistakes, sometimes profoundly altering the biology of cells. If 10 million cells repeat the same error, a tumour forms, as big as the head of a pin, and starts shedding bits of its genes into the bloodstream, like a trail of bread crumbs.

Francis S. Collins, geneticist and head of the National Institutes of Health, US, wrote in his book Language of God: A Scientist Presents Evidence for Belief: "Science reveals that the universe, our own planet and life itself are engaged in an evolutionary process. The consequences of that can include the unpredictability of the weather, the slippage of a tectonic plate, or the misspelling of a cancer gene in the normal process of cell division." With the Human Genome Project (HGP), a massive international effort to unlock the secrets of our genetic script, taking off in 1991, cancer research got a massive leg up. Genes could be isolated from cells in pure form, analysed in full detail, multiplied manifold in the lab, changed at will. They could also be used to discover defects in the blueprint of one's body and to take proactive measures to stem the consequences, most significantly, the processes that give rise to cancers. The 2015 Nobel Prize in Chemistry was awarded to three scientists for explaining precisely how cells make mistakes, repair those and predispose people to cancer when repair mechanisms fail.

THE NEW STRATEGY

Now cancer researchers from Johns Hopkins University and Harvard Medical School have published a new study on the biology of cancer cells (Science, March 2017) that has kicked up a new debate. Based on the mathematical modelling of 32 types of cancers from 69 countries, they argue that about 66 per cent of cancers occur due to random mistakes during cell division, with only 29 per cent due to environmental factors (say, smoking or sun exposure) and 5 per cent to inherited genetic traits. These percentages, however, vary from cancer to cancer. In some lung tumours, environmental factors account for 65 per cent, while in prostate, brain and bone cancers, more than 95 per cent are due to random errors in cells. The study, despite the fears that its conclusions would undercut prevention efforts, has evoked the need for a new strategy, one that would emphasise early detection and treatment, in addition to prevention.

The problem with early detection is that when tumours form, they do not shed enough of a "bread crumbs trail" that can be picked up by CT-MRI-PET scans or by needle biopsies for possible malignancy. But what if cancer can be detected at such an early stage? The idea of a simple blood test as an alternative has come up recently. In India, Bengaluru-based genetic diagnostics company, Strand Life Sciences, has started offering the first phase of liquid biopsies: a simple, non-invasive diagnostic test using circulating tumour genes in a patient's blood, the first such test in India. "In the case of cancer patients, such blood tests can provide early information about tumour presence, relapse after therapy and response to therapy," explains Dr Vijay Chandru, CEO of Strand, who launched the test in April in association with the Mazumdar Shaw Centre for Translational Research, also in Bengaluru.

But what about therapies? Ever since former US president Jimmy Carter announced in 2015 that he was free of a deadly form of skin cancer after receiving surgery, radiation and "a new kind of treatment", he became a poster boy for the exciting new field: immunotherapy. Dr Suri explains that normal cells of the body die when they are not needed, are damaged, or are infected with virus, bacteria, parasites or fungi. "The immune system, the body's first line of defence, keeps track and as soon as it detects anything abnormal or unknown, it attacks and kills it," he says. But cancer cells trick the immune system into not recognising them as a threat. "This allows the tumours to grow and spread," he says. In immunotherapy, the immune system is enlisted to attack and force cancer cells to kill themselves.

MAKE IN INDIA

Where does India stand in all this? Indian cancer patients have been the key partners in discovery of cancer antigen SPAG9, which is being used for personalised intervention by modulating the immune response, says Dr Suri. "Most new technologies are available in the country," says Dr Thangarajan Rajkumar, head of molecular oncology, Cancer Institute (WIA), Adyar, Chennai. "It is the cost of the newer therapies that is the major impediment. But that's true not only for India. Even some developed countries are finding it difficult to provide cancer care to people because of the prohibitive costs." The institute is conducting clinical trials of India's first therapeutic anti-cancer vaccine, SPAG9, in collaboration with Dr Suri and funded by the department of biotechnology and department of science and technology, Government of India. "Rather than directly attacking cancer cells, this therapy involves priming a patient's own immune cells to fight the cancer," he says. "Our immune system prevents most of us from developing cancer, but once cancer develops, the immune system becomes very subdued. The newer immunotherapies are addressing precisely this area, with great results."

With cervical cancer rising dramatically among Indian women-nearly 23 per cent of all cancers in women and over 100,000 deaths a year-it might just be a game-changer. One of the patients included in phase I of the clinical trials at the Cancer Institute, whose persistent cervical cancer had spread to the lungs even after radiotherapy, has been disease-free now for over nine years. The vaccine is being manufactured at a world-class industrial facility, owned by Biocon. Researchers at the institute have also developed a simple kit for cervical cancer screening, a biomarker panel for early diagnosis of ovarian cancer and a therapy to inhibit an aggressive bone cancer, Ewing's sarcoma-all awaiting further verification.

"There are major institutions across the country working on basic, translational and clinical research as applied to cancer," says Dr Rajkumar. New and potentially therapeutic molecules have been identified at the Indian Institute of Science, Bangalore, he points out. A multi-centre study under Professor Partha Majumdar of the National Institute of Biomedical Genomics at Kalyani, West Bengal, and Dr Rajiv Sarin of Tata Memorial Centre's ACTREC (Advanced Centre for Treatment, Research and Education in Cancer) in Mumbai, are doing promising work in cancer genomics. Truly cutting edge research may be taking place only at a few centres, but at hospitals and laboratories across the country, innovative molecular genetic tests, technology and techniques are being used. From next generation sequencing (NGS) technology to detecting genetic change driving a cancer, molecular diagnosis and monitoring, best-in-class radiotherapy equipment, new small molecules to specifically target the tumour cells, stem cell transplantation, hormone therapy to cellular therapy, it's all happening.

RUSH FOR DRUGS

In December 2015, when Jimmy Carter called a press conference to announce that he had been cured of his cancer, the 'breakthrough' immunotherapy drug, Pembrolizumab, sold by pharma giant Merck as Keytruda, got a new moniker, "the president's drug". Keytruda, along with Bristol-Myers Squibb's Opdivo (Nivolumab), is one of a growing number of 'immuno-onco' drugs that unleash the body's immune system to fight malignant cells. Keytruda and Opdivo, effective against some forms of lung, skin, kidney and other cancers, are set to launch in the Indian market soon. Prohibitively expensive, above Rs 1 crore for an entire treatment, the drugs may not be for the general public. But they are shaping up to be the biggest blockbusters for the global pharma industry.

Most patented medicines are unaffordable to the average patient in India, even if priced lower than their western counterparts. But Indian companies, with their track record in generic drugs, are emerging as strong global players in the biosimilar (or exact copies of biological medicines that are already approved) segment of molecularly targeted cancer drugs. From Biocon, Cipla, Aurobindo Pharma, Dr Reddy's Laboratories, Intas Pharmaceuticals to Hetero Drugs, they are all expanding their biosimilar portfolios. Roche has teamed up with Emcure Pharmaceuticals to manufacture and sell its breast cancer drug, Herceptin, at a reduced price in India. "Biosimilars have made cancer treatment affordable to the middle class, and most companies have compassionate usage programmes," says Dr Chandy.

Immunotherapy is emerging as a 'sweet spot' among smaller research companies as well as investors. Biotech company Aurigene Discovery Technologies of Bengaluru has got into off-licence deals with global pharma companies like Curis, Orion and Pierre Fabre for its novel immunotherapy molecules. Delhi-based Curadev, a drug discovery company, has entered into collaboration with Roche. Ratan Tata, chairman emeritus of Tata Sons, has invested an undisclosed amount in biopharmaceutical firm Invictus Oncology, Delhi, to develop a cancer technology platform.

THE NEW NEW

Jugnu Jain, molecular geneticist, cell biologist and inventor with three patents, returned to India from the US in 2011 and realised, surprisingly, that India did not have a human biobank. Globally, there are over 350. "Leftover tissues from surgery or diagnostic procedures, say, cancer tissue, blood or urine, are precious," she says, "highly sought after worldwide by researchers, diagnostics, biotech and pharma companies" to validate their drug candidates in target patient population samples, prior to launching clinical trials. They spur research into diseases: from identifying risk factors to diagnosing early, screening family members at risk to customising a patient's treatment to improve outcomes. Results from such studies can boost, sometimes even replace, the need to test new drugs. Ultimately, the war against cancer depends on cancer research.

Jain co-founded a health science firm, Saarum Innovations, and finally set up India's first commercial biobank and personalised medicine company, Sapien Biosciences, a joint venture with Apollo Hospitals, in Hyderabad in 2013. The work is in full flow. Imagine live cancer cells growing in the lab. Study those to understand the complexity of a tumour, screen new drug candidates, use cultured cancer cells as models to investigate the changes that may have caused cancer, or its spread, or its resistance to a therapy. There are many other applications of fresh samples in a biobank, she says. "Several companies in China have built thousands of cancer models in biobanks, which are being used by pharma companies to screen drug molecules. We can too."

With excitement building around the innovative research in the cancer space, it's hard not to think of a cure. "But to conquer a complicated, costly and devastating disease such as cancer, many more major scientific breakthroughs are needed," says Mukherjee. Medicine still needs to catch up. The battle still relies largely on three brute-force weapons: surgery, radiation and chemotherapy. Cancer cells are subtle and smart. So the treatment needs to be more sophisticated. And bringing in the latest and the best are gene therapies. He points to an important development that took place in 2013: a unique technology, the CRISPR-Cas9 system, currently the most versatile method of genetic manipulation. It's somewhat like conducting a molecular surgery on genes: remove abnormal sequences, replace them with normal ones, pull out genes that give an advantage to cancer cells. The idea comes from some types of bacteria that have a built-in gene editing system against invaders, say, a virus. "Your genome has three billion letters, ATCGs. If it were to be written down, it would be 66 full sets of Encyclopaedia Britannica," he explains. "What if you can take out a letter, one that predisposes you to cancer, erase or tweak it to your advantage?"

Can that be the future of cancer? Or, perhaps, our future without cancer?

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Cancer: Precision medicine finds a new mantra - cure is inside the patient - India Today

New York Times

The Upside of Bad Genes New York Times Earlier this year, the National Academy of Sciences and the National Academy of Medicine issued recommendations on editing embryos and other germ line cells, calling for a high degree of caution but not prohibition. An obvious counterargument to the ... A Crack in Creation review Jennifer Doudna, Crispr and a great ...The Guardian all 5 news articles »

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The Upside of Bad Genes - New York Times

Precision medicine is far more hype than reality right now but, at the same time, the incredible potentialit holds for the future is even greater than all the buzz teases today.

Thats what I came away with from the Precision Medicine Summit in Boston this week.

Lets look into the distant future: A patient walks into a hospital to meet with clinicians who run tests and pinpoint a biomarker for, say, Alzheimers. Then a gene surgeon does some on-the-spot genome editing. The patient walks out with that Alzheimers-free-for-life feeling.

Primary care andgenome sequencing will come to the forefrontto identify which patients can benefit in a future where genome editing is widespread, said Ross Wilson, principal investigator at the University of California Berkeleys Institute for Quantitative Biosciences.

Just how widespread can precision medicine get? Well, Eric Dishman, who spearheads the NIHs All of Us program said the program is starting off with the goal of attracting 1 million American participants but is already thinking about how toscale that into the billionsglobally.

Getting genomic data into an EHR The grand vision is to democratize research and apply more brainpower per problem to the most vexing medical issues.

Before we can get there, though, a lot has to happen to hammer out data gathering and sharing capabilities, retool the healthcare system so its much more adaptable to change and ultimately modernize IT infrastructure to support precision medicine and all the data that entails.

Robert Green, MD, a medical geneticist and physician-scientist at Brigham and Womens Hospital and Harvard Medical School predicted skirmishes,if not all-out war, over genetic and genomic screening practices: with clinicians and patients on one side, calling for as much information as they can possibly get, versus public health officials and others, warning about the unforeseeable consequences of over-screening.

Among the reasons that people are refusing to participate in genetic testing is fear of discriminationby life, disability or long-term care insurance companies, according to Mayo Clinic Department of Laboratory Medicine and Pathology attorney Sharon Zehe. She added that the whole scenario puts providers in an awkward position because even among patients who are willing to undergo screening, many dont want that data to live in their medical records.

Not that getting genetic data into a medical record is exactly easy. One of the fascinating accounts at the conference was Washington University genetics fellow and bioinformaticist Nephi Walton explaining how it took nine months working with Epic to include genetic results into the EHR. You can make a human in that time, Walton said to laughter from the audience as he turned to a slide with a baby picture.

Precision medicine architecture emerging While its true that todays EHRs and IT infrastructure are not ready for the big data needs of precision medicine and I saw that thesame thing is true about population healthlast month at least one architecture is emerging.

Indeed, the strategy of harnessing FHIR standards, with mobile phones as middleware and a common data repository outside the EHR, is an apt way to manage the demands of precision medicine, said John Halamka, MD, CIO of Beth Israel Deaconess Medical Center. The idea is to maximize what patients already have in their homes.

That approach also gives patients more controlover who can and cannot share their data, including researchers, which India Hook-Barnard, director of strategy and associate director of precision medicine at University of California, San Francisco, said it is both the right thing to do and sound science.

But even the architecture Halamka described and giving patients more control over data sharing will not conquer all precision medicine challenges, of course. Michael Dulin, MD, director of the academy for population health innovation at the University of North Carolina Charlotte said simply dumping a whole heap of genomic data on top of the already broken healthcare system, replete with huge variances and medical errors, may actually yield worse outcomes than we have today.

We have to use technology, we need AI, Dulin said. We cannot do this without it.

Walton noted that first we need simple artificial intelligence and machine learning algorithms just to clean up healthcares messy data so its suitable for more sophisticated AI tools.

Precison medicine becomes precision health What was perhaps the boldest prediction to emerge from the conference came from Bryce Olsen, global strategist for Intels Health and Life Sciences unit: Patients will start asking for precision medicine in the second half of 2017 though many of them will not even realize what theyre requesting.

Patients are going to demand that doctors get a better understanding of underlying drivers of disease and defects in their tumor. Were going to see this for cancer first, Olsen said. Doctors that dont have good answers will see patients bounce.

Ill add one more to the mix: Precision medicine, in both term and concept, will be supplanted by the phrase precision health and, yes, this is distinct from how Im seeing digital health become digital medicine.

Precision health, said Megan Mahoney, chief of primary care in Stanfords population health division, is a fundamental shift to a more proactive and personalized approach that empowers people to live healthy lives.

Twitter:SullyHIT Email the writer:tom.sullivan@himssmedia.com

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Precision medicine: Hype today but the promise is even bigger than we think - Healthcare IT News

Jiroemon Kimura, the oldest man ever (Image: YouTube/Screenshot)

Professor S. Jay Olshansky once told Gizmodo, In the world of aging sciences, if you want to live a long life, choose long-lived parents. So genetic markers linked to longevity are interesting as hell. But if youve got the wrong genes, then the wrong moves might do you in.

A team of researchers from universities in the United States wanted to figure out the role of genetics in human lifespan, specifically relating to growth hormone. The researchers work shows two main things: first, that a mutation in mens DNA relating to growth hormone might lead to a longer lifespan. And secondly, that treating older people with growth hormone might be dangerous if they dont have the variation.

Gil Atzmon, the studys principal investigator from Albert Einstein College of Medicine and the University of Haifa in Israel, was most excited by how a slight change in DNA could have such a big impact. Delete a few base pairs, and you still have a functional protein that now makes people live longer, he said. I think this is phenomenal.

This is complex, so Im going to take it slow and possibly oversimplify things. Basically, theres one system in question, the IGF-1/GH axis. Each of these are genes that code for different molecules in your body.

Researchers have already had a hunch that IGF-1 can regulate height at the expense of longevity, like the case in dogs. More IGF-1 means taller but shorter lifespan and less IGF-1 means shorter but longer lifespan. This should make senseits akin to the way big dogs live shorter lives than small dogs.

The researchers studied 800 men and women from across four populations and found something surprising. Indeed, the IGF-1 levels were lower in the centenarians, but many of the men were also taller. The data showed the researchers that theres more than just IGF-1 at play.

Centenarian males were often missing a specific snippet of DNA in their GHR gene. These people seem to be more sensitive to growth hormone and grow taller. So, even though their IGF-1 levels were lower (they lived longer), they still grew taller from their special GH gene. The people with this mutation seemed to live ten years longer, on average.

And the study really was huge. The replication across the four different populations makes our result more accurate and globally translated.

Atzmon himself admitted that all this is pretty complex. But its definitely new, important evidence pointing to the role that this IGF-1/GH axis plays in simultaneously determining your height and your lifespan, explained Andrzej Bartke, Professor of Physiology and Internal Medicine at Southern Illinois University School of Medicine, in a conversation with Gizmodo.

But were not at some level of life-hacking clarity. Clearly more research is needed to understand exactly why this type of GH receptor favors extreme longevity, why the effect was seen only in men and why the results in people studied by these investigators differ from some of the previous findings in different groups of human subjects with the same type of receptors, said Bartke.

Theres a catch to all this. Their results seemed to show that folks who dont have the GH variation might actually be sensitive to growth hormone therapy. This is a stark reminder that administering growth hormone as an intervention to slow agingwhich is still being done in the anti-aging medicine industry is not warranted by the scientific literature, Olshansky told Gizmodo. In fact, could actually be harmful.

So, youre still going to die one day. But as to when, that answer probably doesnt reside in what you eat (or in young blood) nearly as much as it does in what your DNA looks like.

Read more from the original source:
Scientists Find Genetic Mutation That Could Increase the Male Lifespan - Gizmodo

New York Times

Scientists Discover a Key to a Longer Life in Male DNA New York Times But large-scale surveys of people's DNA have revealed few genes with a clear influence on longevity. It's been a real disappointment, said Nir Barzilai, a geneticist at Albert Einstein College of Medicine. Researchers are having better luck following ...

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Scientists Discover a Key to a Longer Life in Male DNA - New York Times