Monthly Archives: June 2017

Antonio Giraldez Named Chair of Genetics – Yale News

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by Jill Max June 13, 2017

Antonio J. Giraldez, Ph.D., has been appointed chair of the Department of Genetics, effective June 1, 2017. Giraldez is professor of genetics and is affiliated with the Yale Cancer Center and the Yale Stem Cell Center. He was director of graduate studies for the Department of Genetics from 2012 to 2016.

Antonio is an outstanding investigator who has made major advances in our understanding of embryonic development. He is committed to continuing the outstanding academic tradition of the department, said Robert J. Alpern, M.D., dean and Ensign Professor of Medicine.

My goal is to continue our trajectory of basic science discovery and bring the research thats being done in our human genetics core closer to patients, so that we become a destination point for analyzing the genomes of thousands of patients.

Giraldezs research in developmental biology, genetics, genomics, and computational biology delves into deciphering the mechanisms by which a single-cell zygote transforms into a multicellular organism. Using zebrafish as a model system, his major contribution has been to contribute to our understanding of the maternal-to-zygote transitionwhat he terms embryonic pubertythe shift that occurs after the embryo interprets and destroys maternal instructions and activates the code contained in its own genome. He also found that the same stem cell factors that reprogram cells play a key role in activation of the genome after fertilization, a universal step in embryonic development that allows an early embryo to develop into different cell types.

Under his leadership, the Department of Genetics will continue to recruit outstanding faculty as it moves into a more quantitative approach to genetics and developmental biology and seeks to bring new understanding to the function of individual genes, as well as the organization of nuclear architecture into gene function. At the same time, Giraldez is excited about the central role genetics will play in our program in personalized medicine. He is eager to build upon Yales strengths in genomic analysis for clinical diagnosis and to leverage the knowledge gained from clinical data to propel basic science discoveries using model systems.

Last year, Giraldez was named as a Howard Hughes Medical Institute (HHMI) Faculty Scholar, an award that recognizes basic researchers who apply innovative approaches to biological problems that are relevant to human health. In 2014, he won the Vilcek Prize for Creative Promise in Biomedical Sciences. He was named as a Pew Scholar in Biomedical Sciences in 2008 and won the John Kendrew Young Investigator Award from the European Molecular Biology Laboratory in 2007. He has twice been a finalist for the Blavatnik National Award for Young Scientists.

Giraldez obtained his doctoral degree in developmental genetics from the European Molecular Biology Laboratory in Heidelberg, Germany and did postdoctoral training in developmental biology at the Skirball Institute of Biomolecular Medicine at New York University Langone Medical Center and Harvard University.

This article was submitted by John Dent Curtis on June 13, 2017.

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Antonio Giraldez Named Chair of Genetics - Yale News

Science and Scientists on the Vineyard: Genes at play with CRISPR – Martha’s Vineyard Times

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Paul Levine, a resident of West Tisbury, former professor at Harvard, and visiting professor at Stanford University, writes occasionally about scientific research taking place today, along with profiles of the Islands scientists and their work and facts of scientific note on the Island. This week, he follows up on his gene-editing column from six weeks ago, which described the genetics research that has led to CRISPR, which stands for clustered regularly interspaced short palindromic repeats. If youre wondering what that is, read on.

In this, the second column on the subject of gene editing, imagine a world in which many human genetic disorders have been eliminated, no children are born with cystic fibrosis, Tay-Sachs disease, sickle cell anemia, or other genetic disorders. Welcome to the world of CRISPR, an acronym for clustered regularly interspaced short palindromic repeats of the DNA of a gene. CRISPR can locate a defective gene and, along with an enzyme called Cas9, can, like a pair of scissors, snip out the unwanted gene and suture a desirable gene in its place. It is a technique of genetic editing that is more precise, efficient, and affordable than anything that has come before. What I describe below is specific to the Vineyard (the elimination of Lyme disease) and relevant to society as a whole for the potential for great good, but also for possible misuse use of the technology, which has raised questions of ethics and safety.

CRISPR-Cas9 as a tool for genetic editing has a history that goes back to a 2011 scientific conference at which microbiologist Emmanuelle Charpentier, now the director of the Max Planck Institute for Infection Biology in Berlin, met Jennifer Doudna, professor of chemistry and molecular and cell biology at the University of California, Berkeley. They talked about CRISPR-Cas9, and what follows is the story of one of the most significant achievements in genetics since the discovery of the structure and function of DNA. It is a story that involves brilliant scientists, competition, big egos, patent disputes, and the possibility of a Nobel Prize, not to mention the immense financial gain by biotech, agribusiness, and pharmaceutical companies.

Prior to todays application of CRISPR to edit genes, it was known that it was a means by which bacteria protected themselves from infection by viruses by recognizing and binding to viral DNA and destroying it with enzymes. Charpentier and Doudna wondered whether the technique could be applied to other things than the detection and destruction of viral DNA. If it could, it might lead to a way to snip out bad genes and possibly replace them with good ones. They began a collaborative research project with bacteria, and developed a technique for cutting out and replacing bacterial genes with CRISPR and an enzyme, Cas9. In other words, it was now possible to edit the bacterial genome by cutting and pasting genes. Doudna and Charpentier published their research in the journal Science in 2012. Aware of the great potential that the ability to edit genomes presented, the University of California patented their discovery.

At about the same time, Feng Zhang at the Broad Institute of MIT and Harvard was working with Cas9, and discovered that CRISPR-Cas9 could also be applied to edit the genes of animals and plants. His discovery was published a few months after the publication of the work of Doudna and Charpentier.

The Broad Institute applied for and received a patent based on the results of Zhangs research. However, prior to their filing, the University of California, Berkeley, had filed for and received a patent based on Doudnas and Charpentiers research.

In a patent dispute, it was ruled that the Broad Institutes patent took precedent over the University of California patent because it applies to animal and plant cells. The University of California, Berkeley, has asserted that although their patent involves bacteria, it includes all forms of life.

Unfortunately, a consequence of the dispute is the enmity that has developed between some of the parties involved.

It was not long before life scientists throughout the world began to develop the technique in order to advance progress in human genetic engineering to cure some of the 6,000 human genetic disorders.

With respect to applications of CRISPR-Cas9 to edit human genes, research is underway to use it to control insect- and spider-borne disease; for example, mosquitoes that carry the malaria parasite and the viruses that cause dengue, West Nile, and Zika fever. The object of the research is to produce sterile female mosquitoes by using CRISPR-Cas9 to edit out the genes required for their fertility, and distribute the sterile females in areas around the world where mosquito-borne diseases occur. This approach has been met with some success at the laboratory level.

Another research effort which might be familiar to you is to eliminate Lyme disease by distributing white-footed mice that have been manipulated with gene-editing techniques to effectively be immune to the bacteria which causes Lyme, all using CRISPR-Cas9. This would break the transmission cycle of the bacteria (see MV Times, Scientist proposes genetic attack on M.V. ticks, July 20, 2016).

I havent mentioned possible commercial applications of CRISPR-Cas9, and the great profits to be made by Monsanto and other agribusiness companies by the production of genetically modified plants and domestic animals. The technology is also appealing to Big Pharma. Its worth looking at the highly controversial and ethical questions that accompany the use of CRISPR-Cas9. In contrast with noninheritable somatic cell human gene editing described above, there is another technique called germ line gene editing, which makes gene changes at the level of human eggs, sperm, and embryos that would be heritable. Experiments on human embryos have been carried out by scientists in China and the U.K. that have raised concern that CRISPR-Cas9 could lead to the production of designer babies parents choosing the traits they want their children to have. Designer babies are a vast topic, too vast to bring up here, but there is an excellent discussion of the subject in Roger Gosdens The Brave New World of Reproductive Technology.

Jennifer Doudna, at U.C. Berkeley, and Feng Zhang at MIT, the principal developers and promoters of gene editing, appear to be at odds over the ethical questions surrounding the technology. Doudna is concerned with the ethics and the publics perception of CRISPR-Cas9, but Zhang appears less so, and prefers to drive the research to cure genetic disorders, putting aside the possibility of the production of designer babies.

If you want to explore CRISPR-Cas9 and come to an opinion regarding one of the most significant developments in genetics in this century, I urge you to read Robert Kolkers 2016 article in Bloomberg BusinessWeek, How Jennifer Doudnas Gene Editing Technique Will Change the World. It can be found at bit.ly/CRISPRdoudna. Listen to Doudnas TED Talk here: bit.ly/TEDdoudna.

Finally, I should mention that a two-act play named Gene Play, about the story of recDNA and CRISPR-Cas9, will be read by a cast of actors at the Vineyard Playhouse on June 19.

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Science and Scientists on the Vineyard: Genes at play with CRISPR - Martha's Vineyard Times

Ancient DNA Could Unravel the Mystery of Prehistoric European Migration – Smithsonian

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Ancient DNA revolutionized archaeology. Now, researchers think they can use it to create a GPS system for the remains of the long-dead.

Lets face it: Even with the modern conveniences of U-Hauls and cardboard boxes, moving is a pain. For Neolithic humans living in Europe 5,000 years ago, the obstaclesroaming predators, lack of transportation, unforgivingmust have seemed insurmountable. Deep in the past, a few humans could have moved hundreds of kilometers, certainly, but most people at that time would not have, says Chris Tyler-Smith, a human genetics researcher at England's Sanger Institute.

New research based on a novel mapping technique, however, suggests otherwise. By combining genetic data with archaeology, researchers analyzed the DNA of over 300 ancient Eurasians and Near-Eastern Europeans to find that these people may have roamed surprisingly far. They found that 50 percent of ancient skeletons were in graves more than 100 miles from their place of origin, 30 percent were up to 620 miles away, and the remaining people had roamed as far as 1,900 miles from their homes.

This is the first time anyone has ever been able to do anything like this, says Eran Elhaik, one of the pioneers of the new technique and a geneticist at the University of Sheffield. We were able to see the emergence of farming, and populations moving because they exhausted the land, and then irrigation systems. As the populations moved, they replaced all the hunter-gatherers. Elhaik and his team presented their preliminary findings last month at the European Society of Human Genetics Conference.

Archaeologists and geneticists alike have speculated about how and where humans migrated across Europe. Based on skeletal remains, they believe Europe was populated by modern humans around 45,000 years ago as hominins moved out of Africa and into other parts of the world. Europe was then largely depopulated when the most recent ice age took hold around 25,000 years ago, except for some stalwart holdouts who found survivable conditions in southern Europe.

Archaeologists have long hypothesized that Europe was colonized by successive waves of hunter-gatherers, based on clear differences in stone tools and bone and shell ornaments recovered from sites across Europe and the Middle East, writes Ewen Callaway for Nature.

But its only recently that archaeologists have been able to compare their material data to the story that genetics tells. With recent advances in analyzing ancient DNA, were beginning to get a much clearerand more complexpicture about these humans and their lives.

DNA is notoriously delicate. It can only survive intact under certain environmental conditions, and prefers cold places. In human samples, the best place to find it from is the petrous bone on the skull, near the ear. But even once youve gotten your hands on some usable DNA, mining it for useful information comes with a series of hurdles.

Extracting ancient DNA and sequencing it with next-generation techniques results in a hodgepodge of information. The DNA isnt just from the ancient humanits also from the surrounding environment, and maybe from contamination introduced by modern researchers. To sort through this tangle, researchers rely on computer assistance to identify a single mitochondrial DNA sequence (the presence of more than one indicates contamination) and pick out deterioration patterns that signal human DNA.

But once those snippets of human DNA have been plucked from the mess, they can open up a world of discoveries. We can learn about everything from what ancient humans like tzi the ice mummyate and wore, to how often Neanderthals and humans were procreating. I think its one of the most exciting developments in science in the last few decades, says Tyler-Smith. People have compared it to the development of radiocarbon dating in the middle of the 20th century in terms of its impact.

Elhaik has expanded on the information that can be extracted from ancient DNA using a technique he pioneered with living humans, called Geographic Population Structure, or GPS. This technique relies on datasets that compare single nucleotide polymorphismsdifferences in DNA nucleotides that act as biological markers among individuals. The GPS method uses the SNPs (pronounced snips) of populations that have been in one place for multiple generations, then contrasts it to groups that live farther away.

We didnt just hack a cool acronym, it really works like GPS navigation, Elhaik says. Instead of satellites were using populations that are very well localized to their regions.

In a 2014 study in Nature Communications, Elhaik and his colleagues applied the GPS method to more than 600 people around the world, and were able to correctly assign 83 percent of those individuals to their country of origin. When the same technique was applied to 200 Sardinian villagers, a quarter of them were placed in their villages and the majority of people were placed within 50 km of their homes.

The same technique is at play in their new research. We used ancient DNA extracted from skeleton remains from 12000 BC to 500 AD," saysElhaik."The DNA goes in and coordinates come outthough he adds that the sample size is far smaller for ancient individuals, so there are far more gaps across the continent. Think of it as GPS for the long-dead.

If you have perhaps 20 or 30 people who come from the same population, then theres extra information you can get, says Tyler-Smith, who is not involved in the GPS research. But, he adds, bigger numbers are always better.

But geneticists and archaeologists dont always agree on the finer points of prehistory. For Marc Vander Linden, a professor of archaeology at University College London, using such small sample sizes to draw large conclusions is problematic.

Geneticists have suggested wide-scale processes on the basis of limited, spatially clustered samples, and thenwronglygeneralized these results for the entire corresponding archaeological cultures, Linden said by email. Both archaeologists and geneticists need to fully realize and consider that genes and material culture do not operate in the same spheres of action, nor do they unfold upon the same spatial and temporal scales.

Linden does agree that geneticists work in ancient DNA has revolutionized the field and opened up new avenues of inquiry. Ancient DNA research, alongside other types of data, points to the fact that the population history of prehistoric Europe was in constant flux and marked by numerous episodes of both expansion and retraction.

If Elhaiks technique pans out, it could answer tantalizing questions about human migrationfor instance, how agriculture came to the region. Archaeologists have debated for decades whether it was transmitted by human migration, or by the movement of the idea itself. Part of the debate has recently been settled by genetics, with researchers seeing the movement of agricultural communities from the Near-East into the hunter-gatherer groups in Europe. Elhaik thinks his groups research will further elucidate that question and show more precise movements of multiple groups of people.

For Tyler-Smith, that type of increased resolution into the broad outlines of the past is the future of the field. Hed also like to see more samples from other parts of the worldthe hotter, dryer regions like Africa and southern Europe where its been harder to find ancient DNA still intact due to the environmental conditions. For now, though, unraveling European migration is itself helping us make sense of human ancestryand the fact that were all mutts.

Theres no such thing as a European population thats been around for 40,000 years, Tyler-Smith says. Mixing has been going on throughout prehistory and I think we will see that in every part of the world as we come to study it in this level of detail.

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Ancient DNA Could Unravel the Mystery of Prehistoric European Migration - Smithsonian

How a Galpagos bird lost the ability to fly – Bend Bulletin

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The birds of the Galpagos Islands are playing a role in understanding evolution.

When Charles Darwin visited the islands, it was the variety of finch beaks that helped him understand how one species could evolve into many.

The Galpagos cormorants, the only species of cormorant to have lost the ability to fly, have enabled scientists to pin down the genes that led to this species split from other cormorants 2 million years ago.

They are genes that are present in birds, mammals and most animals, including the worm often studied in laboratories: C. elegans. In fact, they are even present in some algae. Their ultimate effect varies, however. In humans and in the cormorants, the genes affect bone growth. But mutations in humans can cause dreadful diseases; in the birds, they caused smaller wings, which were not effective for flight, and a weaker breastbone.

Alejandro Burga, who analyzed the DNA of these and other cormorants with his colleagues, is a researcher in the lab of Leonid Kruglyak, the chairman of human genetics at UCLAs medical school. He said he and Kruglyak were discussing how they might use the increasing power of modern genetics to investigate how new species develop.

On a trip to the Galpagos, Kruglyak viewed cormorants as an ideal subject, partly because of their relatively recent evolution as a species and their obvious difference from all their kin.

Patricia Parker, a behavioral ecologist at the University of Missouri, St. Louis, who studies bird diseases in the Galpagos, provided tissue samples for DNA of the flightless cormorants. She had in her freezer over 200 samples of this bird, Burga said.

He and other researchers found that a gene called Cux1 and some others were involved in the growth of cilia. These whiplike structures on the surface of cells can function in movement in single-celled animals. But in birds and humans, they work like antennas, and one of their jobs is to pick up biochemical signals for bone growth.

The end result of mutations in Cux1 in humans can be terrible diseases, called ciliopathies. In the cormorants, however, the result seems to have been to prematurely stop bone growth in the wings, resulting in the loss of flight, but leaving the birds to thrive in the water and on land.

Without a knowledge of DNA and the tools of modern genomics, Darwin could not have come up with the conclusions of the current study, published in Science.

But he certainly would have had something to say.

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How a Galpagos bird lost the ability to fly - Bend Bulletin

International Study Identifies New Genetic Risk Factors for Testicular Cancer – Lab Manager Magazine

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TAMPA, Fla. Testicular cancer is relatively rare with only 8,850 cases expected this year in the United States. A majority of testicular cancer, 95 percent of all cases, begins in testicular germ cells, which are the cells responsible for producing sperm. Testicular germ cell tumors (TGCT) are the most common cancer in men aged 20 to 39 years in the U.S. and Europe. Peter Kanetsky, PhD, MPH, chair of the Cancer Epidemiology Department at Moffitt Cancer Center, and colleagues from the International TEsticular CAncer Consortium (TECAC), launched a large analysis of five major testicular cancer studies to investigate genetic risk factors linked to TGCT. Their results, which uncovered eight new genetic markers associated with TGCT, were published in the June 12 issue of Nature Genetics.

The incidence of TGCT has been increasing around the world throughout the past 50 years. Between 1973 and 2003, the number of men diagnosed with TGCT rose by 54 percent. TGCT is also more prevalent in certain populations. Men who are of Northern European ancestry have the highest incidence of TGCT, while men of African decent have the lowest incidence.

Scientists are unsure why the incidence of TGCT has been increasing or why it is more prevalent in certain populations. Their goal is to identify risk factors for TGCT to increase their understanding of how it arises and to identify those patients who may develop TGCT to prevent progression and treat the disease earlier.

It is believed that some TGCT risk factors may be inherited. Men who have a father with TGCT are four times more likely to develop it, and the risk increases eight-fold if they have a brother with TGCT. Approximately 30 genetic risk factors have been identified so far, but these do not completely account for all of the potential heritable risks.

TECAC combined data from five previous genome-wide association studies, providing researchers with more than 3,500 TGCT cases internationally to review. Their analysis identified eight new genetic markers that are associated with an increased risk of developing TGCT and refined four previously reported susceptibility regions.

Our findings substantially increase the number of known susceptibility genes associated with TGCT. This moves the field closer to a comprehensive understanding of the underlying genetic architecture and development of the disease, Kanetsky said.

Kanetsky is a co-senior author of the study, along with Katherine L. Nathanson, MD, a professor of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania and a member of Penns Abraham Cancer Center. The papers lead author is Zhaoming Wang, who completed the study while at the National Cancer Institute. Funding for study was provided by the National Cancer Institutes Clinical Genetics Branch Familial Testicular Cancer Project (NCI 02-C-0178, NCT-0039598), TECAC (U01CA164947) and the National Institutes of Health (CA114478).

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International Study Identifies New Genetic Risk Factors for Testicular Cancer - Lab Manager Magazine

Trump knocks House health care bill as too harsh – POLITICO

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President Donald Trump hosts a working lunch with members of Congress, including Sen. Lisa Murkowski (left), at the White House on June 13. | Getty

President Donald Trump directed Senate Republicans to pass a generous health care bill at a meeting with more than a dozen GOP senators on Tuesday, arguing that the austere House health care bill is difficult to defend, according to people familiar with the meeting.

The president also said Republicans risk getting savaged in the 2018 midterms if they fail to repeal Obamacare after a seven-year campaign against the law.

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But he made clear that the Senate needs to pass a bill that Republicans are able to more easily defend and is not viewed as an attack on Americans from low-income households, as the House bill has been portrayed by critics, the sources said. He also advocated more robust tax credits for people who buy insurance on the individual market, a move that would increase the bills cost.

Sen. Rob Portman (R-Ohio), who is pushing the Senate to slow the repeal of Medicaid expansion, indicated Trump is concerned about the people who are enrolled in the program for low-income Americans.

He talked about the need to take care of people, Portman said of the president.

The gathering included 13 GOP senators of varying ideological stripes, from the moderate Sens. Susan Collins of Maine and Lisa Murkowski of Alaska to the conservative Mike Lee of Utah and Ted Cruz of Texas. The meeting left some Republicans on Capitol Hill with the impression that Trump is siding with more moderate Republicans, particularly when it comes to winding down Obamacares Medicaid expansion, which brought insurance coverage to millions of people.

Trump has told associates that news coverage of the House health care bill was terrible, in the words of one associate who has spoken with him.

Trump threw a party in the Rose Garden celebrating the passage of the House bill and has publicly called it terrific.

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But aides and associates said he has not liked the news coverage and has shown little interest in what is in the bill but wants it to be received well.

Conservatives want to wind down the expansion quickly and curtail future Medicaid spending, while more centrist senators are trying to preserve as much coverage as possible. Republicans said Trump spent a significant portion of the meeting observing senators disagreeing over the matter.

Murkowski, who, like Portman, is from a state that expanded Medicaid, said she made it clear to the president that she is concerned about repealing the expansion.

I reinforced that I think Medicaid expansion has been very important to the state of Alaska, she said.

Sen. Pat Toomey (R-Pa.), who is arguing to constrain future Medicaid spending to a rate lower than the House bill provides, said finding the sweet spot remains a challenge.

It feels like were making a little bit of progress. Its slow, but it was always going to be a tough slog, said Toomey, who attended the meeting.

A White House official said Trump did not take a firm position on Medicaid, which is the subject of much deliberation within the Senate Republican Conference. Seema Verma, administrator of the Centers for Medicare and Medicaid Services, attended both the White House meeting and a subsequent GOP lunch on health care, playing point for the administration on the matter.

And rather than instructing senators to meet hard deadlines, Trump urged Republicans to have a more orderly process than the chaotic one in the House. Senate Majority Leader Mitch McConnell is trying to call for a vote this month, though it may slip until July due to ideological disagreements and the difficulty of drafting such a complex bill.

The president asked Republicans to set aside their vast policy differences and find consensus.

The message really was, I know you have your differences, but work through them and lets figure out a way to get it done, said Sen. John Thune (R-S.D.). We have to get a product.

He wants us to pass this bill and improve this House bill, Senate Finance Chairman Orrin Hatch of Utah told reporters.

Republican senators believe it will be at least a week before a coherent blueprint emerges for the GOP to chew over. Leaders are still going back and forth with the Congressional Budget Office to lay out options for Medicaid and tax credits and how much each option would cost.

Hatch told reporters that he doesnt think there will be a bill this week. If that prediction holds, it would be difficult for the Senate to vote on legislation before the Fourth of July recess.

McConnell refused to tell reporters when a bill might be released or how long it would be available to the public before a vote.

Well let you see the bill when we finally release it, McConnell said. Nobodys hiding the ball here.

Trump has taken a much more hands-off approach to the Senate bill than he took with the House version. Many senators expect the president to weigh in with more one-on-one or group lobbying as the GOP gets closer to moving a bill to the Senate floor.

Hell be a big help, but I think the timing is important. And hell be an important part of this, said Senate Majority Whip John Cornyn (R-Texas). We need to consult among ourselves and come up with a consensus.

Adam Cancryn contributed to this report.

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Trump Throws His Own Health-Care Plan Under the Bus – Vanity Fair

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Donald Trump looks to House Speaker Paul Ryan of Wis., and other House congressmen in the Rose Garden after the House pushed through a health care bill.

By Jabin Botsford/Getty images.

Last month, after weeks of browbeating and cajoling wary lawmakers, Donald Trump threw a party on the White House lawn to celebrate the passage of the American Health Care Act through the House. A brass band was on hand for the Rose Garden ceremony as dozens of Republicans lined up behind the president to take turns praising each other for crafting a bill that would slash subsidies for the sick and elderly and was estimated to cover 24 million fewer people. More than a dozen politically vulnerable congressmen in swing districts ultimately changed their votes and went out on a limb for the president, who was then eager to score a legislative win in the wake of his 100th day in office. But now, as Senate Republicans deliberate in secret as they race to hold a vote ahead of their July 4 recess, Trump appears to be having second thoughts about the G.O.P. health-care plan, which is supported by just 24 percent of voters.

In a lunch meeting with more than a dozen Republican senators at the White House on Tuesday, Trump started off with praise. I really appreciate what youre doing to come out with a bill thats going to be a phenomenal bill for the people of our country: generous, kind, with heart, he said, according to The New York Times. He then went on to suggest that the Senate should actually put additional money into the House plan, which he described as mean. CNNs Jim Acosta reported that the president went on to call the legislation cold-hearted and a son of a bitch.

While it is unclear what aspects of the repeal bill the president was specifically referring to, his private comments mark a sharp departure from his public approval last month. At the time of the health-care bills slim 217-213 passage in the House, Trump seemed blissfully unaware of what was in the bill or the potential impact it could have on his own supporters, reportedly viewing the vote primarily as the fulfillment of his campaign promise to dismantle Obamacare. But the fierce backlash to its passage, as well as the Congressional Budget Offices estimate that the G.O.P. plan would cover 24 million fewer people than current law, reportedly changed his view. Politico reports the president has told associates that the coverage of the bill was terrible and wants the Senate to pass a bill that will be better-received by the public.

Humoring the president is presumably not a top priority for Republicans, who already have their hands full. The Senate G.O.P. has been locked in back-room negotiations for weeks over the Republican bill, which they began rewriting immediately after receiving it from the House. I dont know how we get to 50 [votes] at the moment, Senate Majority Leader Mitch McConnell conceded last month. It was only in the last few days that Republican senators began putting the finishing touches on their version of the bill, which they have so far refused to make public (We arent stupid, one aide recently said, by way of explanation). And they dont appear particularly amenable to starting over just because Donald Trump, who has admitted that health-care policy is much more complicated than he originally assumed, is expressing doubts. The Times reports that senators are growing increasingly indifferent to Mr. Trumps policy interests and did not seem moved by his entreaties.

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Trump Throws His Own Health-Care Plan Under the Bus - Vanity Fair

To Survive, Health Care Data Providers Need to Stop Selling Data – Harvard Business Review

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Executive Summary

Most data-driven healthcare IT (HCIT) providers arent going to survive. Their business models are at serious risk of failure as health data becomes more widelycollected and freely shared. To beat those odds, they need to evolve dramatically, and fast, to a point where they are not selling data but providing insight. There are two common ways to provide insight: one is to focus on specific use cases, and the other is to focus on particular patient populations.The marketplace is rapidly moving in this direction. For example, Proteus Digital Health is engaging with health systems to provide insights into health patterns and treatment effectiveness for patients with uncontrolled hypertension and diabetes.The late economist and marketing professor Theodore Levitt famously said People dont want to buy a quarter-inch drill, they want a quarter-inch hole. In health care, providers dont want data, they want solutions that lower costs and improve outcomes. HCIT firms that deliver those solutions are the ones that will be around in five years time.

Most data-driven healthcare IT (HCIT) providers arent going to survive. Their business models are at serious risk of failure in the next three to five years. To beat those odds, they need to evolve dramatically, and fast, to a point where they are not selling data at all.

Like any number of industries, healthcare is being transformed by the explosion of low-cost data. In healthcare, the transformation is driven in large part by electronic medical record adoption and digitization. There have been many benefits. End users can take advantage of quantities of newly available information to solve problems in population health, clinical decision support, and patient engagement, among other applications. And ease of access means ease of market entry: Emerging data providers can get on their feet quickly and create new sources of competition. For example, AiCure and Propeller Health are using very different methods to generate patient medication adherence data. Competition leads to better offerings and more choice. What could go wrong?

Plenty, actually. End users can be overwhelmed by the flood of raw data and reports that may not fit well with their existing workflow or answer their specific question. And for data providers, ubiquitous availability of information and low barriers to entry means that the competitive advantage gained from the data itself can be quickly eroded.

Yet too many HCIT providers are still pursuing that data-centric advantage. The bulk of HCIT investment supports startups that sell data clinical or operational information that is otherwise difficult for clients to obtain or to organize. These firms regard data as the source of business value. But as more data and more data providers flood the market, a competitive position based solely on data becomes impossible to defend. Consider the move by the Centers for Medicare and Medicaid Services to publish extensive Medicare enrollment and utilization data, and to make it accessible and easy to interpret via the CMS website. Information that would once have been proprietary and premium-priced is now widely available, for free. CMSs move illustrates a broad trend. Increasingly, for most HCIT firms, data is a commodity.

Whats a data provider to do?

One solution is to become the authoritative source for a particular kind of information. Some firms have managed it, in healthcare and in other arenas think of QuintilesIMS as a source of pharmaceutical sales data, Nielsen as the authority on TV viewer habits, and the U.S. Census for information about U.S. demographics. In theory, a healthcare IT provider can follow their lead and try to corner the market on a data set. But to do this in todays landscape is a tall order. The same dynamics weve described widespread access, low costs, low barriers to entry, commoditization of data sets mean its an open question whether this strategy can work.

A better option is to evolve from providing data to providing insight.

Companies moving this direction aim to solve problems within a use case, for example, decision support. They might focus on a specific population such as cancer, diabetes, or Alzheimers patients and a specific insight about disease progression, pain management or treatment options. They address an underlying stakeholder need such as managing the total cost of care. Clients get whats really needed raw data transformed to support better decisions. And HCIT providers escape the commodity trap.

The marketplace is rapidly moving in this direction. IBM established its Watson Health business unit to apply cognitive computing analyses to healthcare and in 2016 announced plans to acquire Truven Health Analytics for $2.6 billion. IBM plans to leverage Truvens vast data collection sourced from more than 8,500 insurers, hospitals and government agencies to support specific use cases, using Watsons analytical capabilities. For example, some Watson Health initiatives focus on improving oncology diagnostics and identifying the most effective treatment protocols for specific cancer patient subgroups.

Another solution provider, Proteus Digital Health, is engaging with health systems to provide insights into actual medication use and resulting health patterns. Understanding treatment effectiveness for at-risk patients in particular for patients with uncontrolled hypertension and diabetes is a priority for many health plans. Proteus analytics support patient and family engagement and care-team coaching to drive clinical improvement. Other data analytics services based on accurate medication-intake information, in combination with physiological measures, also promise to improve clinical decision-making, reduce doctors workload, and improve outcomes.

The transformation from data provider to data analytics services is hard. It requires significant changes in business models, staffing and management approach. But we believe its the only option. The late economist and marketing professor Theodore Levitt famously said People dont want to buy a quarter-inch drill, they want a quarter-inch hole. In health care, providers dont want data, they want solutions that lower costs and improve outcomes. HCIT firms that deliver those solutions are the ones that will be around in five years time.

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To Survive, Health Care Data Providers Need to Stop Selling Data - Harvard Business Review

How About This Health Care Act That Both Democrats And Republicans Support – Forbes

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Forbes
How About This Health Care Act That Both Democrats And Republicans Support
Forbes
Think Democrats and Republicans can't agree on anything healthcare related? Well, here's something that has a good amount of bipartisan support in Congress: the ''Personal Health Investment Today Act'', otherwise known as the ''PHIT Act.'' You know ...

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How About This Health Care Act That Both Democrats And Republicans Support - Forbes

University of Great Falls Pivots to Health Care – Inside Higher Ed

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University of Great Falls Pivots to Health Care
Inside Higher Ed
The University of Great Falls in Montana is shifting to emphasize training for the health-care field and will be renamed the University of Providence at the beginning of July, following an investment by the multistate Providence St. Joseph Health system.

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University of Great Falls Pivots to Health Care - Inside Higher Ed

White House Changes Subject to Health Care – Roll Call

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As Attorney General Jeff Sessions testimony before the Senate Intelligence Committee on Tuesday fanned the flames of the Russia scandal that hangs over Donald Trumps presidency, the White House appeared eager to change the subject to health care.

And that appears to be just fine with Democrats amid a messaging war over the Republicans crafting of a replacement for the 2010 health care law that Trump claims will be far better than the Obama-era system.

Sessions tussled with Democrats on the Intelligence panel Tuesdayduring dramatic testimony as Trump was en route to Wisconsin aboard Air Force One. The attorney generaldeclined to answer questions about conversations with Trump, citing the potential that the White House could assert executive privilege which has not yet happened.

And he denied meeting with the Russian ambassador to the United States following a foreign policy speech last April by then-candidate Trump at Washingtons Mayflower Hotel. Sessions defiantly pushed back on notions that his attending the same event as the ambassador, Sergey Kislyak, would constituteproof of collusion.

The attorney generalclashed with Sen. Ron Wyden over the Oregon Democrats contention that hewas stonewalling the panel. Sessions hit back, accusing Wyden and others of besmirching him with secret innuendo. As the dramatic scenes played out on Capitol Hill, Air Force One was touching down in Milwaukee.

The president first met with what the White House often calls Obamacare victims, then appeared with some to tell their tales of being slighted by the 2010 health care law. The president, sounding energized to be talking about health care again in a state he won in November, said American citizens deserve so much better.

[Sessions: Suggestions of Collusion a Detestable Lie]

He then pivoted to bashing congressional Democrats, telling an audience at General Mitchell International Airport that the Democrats have let you down big league. As he did earlier Tuesdayin the White Houses Cabinet Room during a health care meeting with 15 Senate Republicans, Trump said the GOP push for a new law will get no obstructionist Democratic votes.

Trump and his top aides are ramping up their health care messaging as Senate Republicans accelerate their work, aiming to vote before a July 4 recess. But Republicansare finding an opposition party that appears up for a messaging fight.

Senate Minority Leader Charles E. Schumertook aim at Vice President Mike Pence and Senate Majority Leader Mitch McConnellon Tuesday.

He noted his relationship with McConnell since he became the Democratic leader is going fine, but he blasted the Kentucky Republicanfor legislative malpractice worse than he has seen during his 18-year Senate career by any leader. He was especially harsh on Pence, who huddled with the Senate GOP caucus on Tuesday after the White House meeting.

Schumer noted that Pence, during the 2009 health care debate when he was a member of the House GOP leadership team, urged Democrats that the American people deserved time to read the legislation, and that every member of Congress should commit to reading such a consequential bill.

Today, no member of Congress can read the [GOP] bill because we dont know what it is, Schumer said, adding that Democrats had 160 hours of floor debate and adopted more than 150 GOP-crafted amendments.

Thats what the process should look like, he said. It should be open, it should be fair, and not happen behind closed doors. The Republicans are so ashamed of this bill, they cannot even let a little sunshine light it up. Theyre ashamed of the bill.

Sen. Christopher S. Murphy, D-Conn., said the focus should be on the GOPs health care legislation.

My advice today: focus 10% of your attention/outrage on Sessions testimony, 90% on the secret health care bill that is speeding to a vote, he tweeted.

Hours earlier, House Minority Whip Steny H. Hoyer, D-Md., told reporters that based on conversations he has had with senators, the possibility of that chamber passing a health care bill before the July 4 recess is very, very small.

Schumer and Hoyers comments come as Democratic campaign entities are hammering Republicans with what is largely a one-issue attack: health care.

Trump would like the Senate to reach a consensus sooner rather than later. But at the start of his lunch meeting on the subject with the GOP senators, the president seemed more patient than normal he did not give the senators a hard deadline to finish a version that would have to be reconciled with a House-passed version before reaching Trumps desk.

As glasses of iced tea with large lemon wedges affixed to the rims sat mostly untouched before the midday meal was served, Trump told reporters he merely wanted the GOP senators to finish their version of the legislation as soon as we can.

The often-demanding president praised Republican senators for working very, very hard. Without getting into specifics, Trump predicted the Senate will pass a phenomenal bill that will feature a great health care plan that will be far better than the Obama-era law.

Meanwhile, as the Capitol prepared for Sessions testimony about Russia and former FBI Director James B. Comeys firing, White House aides were eager to to cast Tuesday as just another day in the West Wing.

Aides were seen carrying lunches back to their desks or notebooks to their next meeting. Workers moved boxes of sodas around, and a crew loaded furniture into a white box truck through the same door used by Trump to welcome world leaders to the White House.

A black squirrel paused around 1 p.m. after dropping something on a driveway, scooped it up, and sprinted toward a tree on the edge of the North Lawn.

A reporter climbed a small ladder and watched what appeared to be some of the Republican senators leaving after the lunch meeting via a side door on West Executive Drive. As they did, Marine One roared into sight and landed on the South Lawn near the Oval Office to ferry Trump to Joint Base Andrews in Maryland for his flight to Wisconsin.

In many ways, it was like any other day at the executive mansion. Only, for the second time in five days, it was anything but. Not only did the day feature more high-profile testimony related to the Russia matter, it came as the White House refused to deny that the president is considering firing special counsel Robert Mueller, whos now leading the FBIs Russia probe.

White House aides also pressed forward with what is being called workforce development week at the executive mansion.

As part of this theme, Trumpleft Washington just before Sessions began to testify on a trip that served several purposes not just to talk about health care but workforce issues.

[Will GOP Settle for a Clean Debt Limit Win?]

So Trump not only talked health care in Wisconsin. He toured a community college and held a roundtable on workforce development. He also participated in a fundraiser for Wisconsins Republicangovernor, Scott Walker.

But even as the White House was eager to cast Trump as a getting-things-done president, the Russia matter just wouldnt go away back in Washington.

His attorney general aggressively denied any involvement in any possible collusion with Russian officials as they interfered in the 2016 presidential election.

I was your colleague in this body for 20 years, at least some of you, and the suggestion that I participated in any collusion, that I was aware of any collusion with the Russian government to hurt this country, which I have served with honor for 35 years, a clearly angry Sessions sharply told his colleagues, or to undermine the integrity of our democratic process, is an appalling and detestable lie.

But even amid that passionate denial, Democrats appear eager for a fight.

Attorney General Jeff Sessions testimony left far too many questions unanswered, House Democratic Caucus Chairman Joseph Crowleysaid. It is abundantly clear there was inappropriate contact between President Trumps campaign and the Russians that must be investigated and explained in detail to the American people.

Get breaking news alerts and more from Roll Call on your iPhone or your Android.

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White House Changes Subject to Health Care - Roll Call

Reducing Health Care Costs Through Behavioral Modification – PLANSPONSOR

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Rising health care costs are projected to be the most burdensome expenses in retirement, but minimal behavioral change can significantly lower the price tag. These conclusions are from HealthView Services 2017 Retirement Health Care Costs Data Report, which draws from 70 million health care cases as well as actuarial, government and economic data.

According to a HealthView case study cited in the report, a 50-year-old with Type II diabetes who follows doctors orders can potentially add eight additional years to life expectancy and save an average of $5,000 annually in out-of-pocket costs before retirement. The firm notes that if the same individual invests that sum into a fund that earns a 6% return, that person would have more than $120,000 by age 65 or an extra $14,000 per year (assuming the person lives to the actuarial projected age of 80). With another $2,750 per year in health care savings in retirement, this individual would have generated almost $17,000 more in annual retirement income.

These findings emphasize the importance of communicating effective benefits packages in order for employees to make the most out of the offerings most beneficial to them. Adding a health component to financial wellness programs or adopting programs that incentivize healthy behavior may help as well.

But participants who dont address their health issues through behavior modification could be looking at a very expensive retirement, as could employers enduring higher health care costs.

According to HealthView, retirement health care cost inflation is expected to increase at an annual rate of 5.47% for the next decade. This translates to triple the rate of inflation between 2012 and 2016, and more than double the projected Social Security cost-of-living-adjustments (COLAs).

The study indicates that a healthy 65-year old couple retiring today is expected to need $321,994 to cover total health care costs in retirement, when factoring in projected expenses for Medicare Part B and D premiums, as well as supplemental and dental insurance. When accounting for deductibles, copays, hearing, vision, and cost sharing, that number jumps to $404,253 in todays dollars or $607,662 in future dollars.

Medicare Part B premiums alone jumped by 16% in 2016. So far in 2017, they have increased by 10% despite a 24% decrease predicted by the Medicare Board of Trustees.

HealthView Services reports that the main driver behind these rising expenses is the increase in retirement health care inflation.

The report notes that Through a short-term lens, the average 65-year-old couple that retires in 2017 will pay $11,369 in their first year for health care$670 more than the same couple retiring in 2016. By age 85, those 2017 retirees will spend $39,208 (or $1,915 more for the same coverage than last years retirees).

Women in particular may face a larger burden due to increased life expectancy. HealthView finds that women live on average two years longer than men. The firm projects that expected health care costs for a healthy 63-year-old woman retiring this year (living to age 89) would need $362,607 in future dollars or 29.9% more than a 65-year-old male.

But regardless of age or gender, the firm finds that minimal behavioral change can reduce health care expenses and boost savings as well as longevity.

Although these numbers may seem out of reach, the savings required to cover health care when meeting retirement savings goals are often more modest than might be expected, says HealthView President and CEO Ron Mastrogiovanni. A 55-year-old can increase 401(k) contributions by as little as $17 per paycheck to address their retirement health care premiums, assuming a company match of 50% and they are meeting an 85% incomer replacement ratio savings goal.

The full 2017 Retirement Health Care Costs Data Report can be found at HVSFinancial.com

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Reducing Health Care Costs Through Behavioral Modification - PLANSPONSOR

Why legal challenges could slow down precision medicine – Healthcare IT News

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BOSTON -- While researchers and providers continue to make strides to make precision medicine more of the norm, obvious barriers like government regulations are hindering widespread implementation.

But providers also need to be aware of the legal entanglements, once they begin to incorporate genetics and precision medicine into operations.

[Also:How precision medicine can fix a broken healthcare system]

To Sharon Zehe, attorney for Mayo Clinic Department of Laboratory Medicine and Pathology, there are four major legal challenges to precision medicine: Navigating research and privacy protections on gathered data; providing affordable testing for patients without breaking fraud and abuse laws; responsibly using results as the data evolves; and discrimination

The issue that I see for the most part is discrimination, Zehe said at the HIMSS Precision Medicine Summit on Monday. People are refusing genetic testing and research, as theyre concerned about discrimination.

While the Genetic Information Nondiscrimination Act became law in 2008, which prohibits discrimination in health insurance, it doesnt cover life insurance, disability insurance or long-term care insurance, said Zehe. And patients are worried about results of these tests because of these purposes.

[Also:Widespread precision medicine is still years away, experts say]

And no, genetic data cant be kept out of the medical record, said Zehe.

Providers are in an awkward position, she added. While the FDA is making strides on better educating providers on whats expected when it comes to testing, there is still a long way to go.

The FDA published draft guidance for NGS testing in July 2016 and is in the process of creating a workable regulatory platform to encourage innovation, while ensuring accuracy.

Genetic data is PHI, but the genetic sequence is not considered PHI, said Zehe. But the minute the sequence is interpreted it becomes PHI. Theres a delicate balance between sharing sequencing data and related data, while protecting identity of participants or patients.

[Also:Eric Dishman wants precision medicine to move from personal to universal]

Another issue involves who pays for testing, as there are many ways providers and labs can find themselves in legal trouble.

For example, Zehe said, Were seeing pharma companies teaming with labs to offer free testing for patients. Pharma companies say I will pay for all tests. Providers can order tests and dont need to worry about reimbursement, as a test sent to that lab would be paid by the pharma company.

While it appears the pharma company is doing that to be altruistic, theyre doing it for the data, sahe continued.

Labs are also running tests in exchange for data. Entering into that type of collaborating involves the lab sharing a lot of data -- but all of that data sharing must be HIPAA-compliant, said Zehe. Do your patients know the data is being given to pharma?

Health plans also often lack coverage and may require preauthorization.

Providers may want to use a lab with limited charges to patients, Zehe said. But there are several lawsuits from payers on these fee forgiveness programs to patients, who never receive a bill.

While financial assistance is ok, a lab cant come in and say a patient doesnt have to pay, as it breaches the insurance contract -- tortious interference, she continued.

Twitter:@JessieFDavis Email the writer: jessica.davis@himssmedia.com

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Laboratory IT systems grapple with genetic testing surge – Healthcare IT News

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BOSTON Precision medicine holds big promise, but it's also posing big challenges for hospital labs trying to manage a huge increase in requests for genetic tests.

At the HIMSS Precision Medicine Summit on Tuesday, Patrick Mathias, associate director of laboratory medicine informatics at University of Washington, spotlighted just how complex the genetic testing boom has become for clinical technology.

Hospital laboratories are "feeling the first wave of precision medicine," said Mathias, as they're "on the front lines of coordinating high-complexity testing."

[Also:How Penn Medicine primed its IT infrastructure for precision medicine]

Many hospitals rely on having to send out tests to reference laboratory when testing is unavailable at primary lab. But that leads to IT challenges for hospitals. Most distinct tests aren't integrated into EHRs and there's a big potential for order entry errors from tests not defined in clinical information systems.

As genetic testing has evolved in complexity beyond the single-gene paradigm, the genetic testing market has become similarly complex and dynamic, he said with more than 69,100 genetic testing products on the market and as many as 10 new ones every day.

[Also:EHRs and health IT infrastructure not ready for precision medicine]

To improve the management of tests and better integrate their genetic information into workflow, Seattle Childrens Hospital which spends more than $1,000,000 annually on genetic sendout testing helped launched the Pediatric Laboratory Utilization Guidance Services, or PLUGS, a nationwide network with more 60 other hospitals and health systems, with the aim of improving ordering, retrieval, interpretation and reimbursement for genetic tests.

Along the way, within its own walls, coordination between clinical and IT staff was key, said Mathias, and demanded a nuanced approach to process improvement from both sides of the equation.

The initiative required staff at Seattle Children's to embrace workflow standardization improve the efficiency of manual sendout processes through. The hospital had to bolster lab staff expertise to improve ordering process, streamlining test comparison and get better test result management.

It also made used lab genetic counselors to improve quality and reduce costs they help spot and correct errors that could impacting patient safety, said Mathias, leading to cost savings that in turn justify the addition of more resources.

Having achieved those successes, "the challenge was how can we do that so we can scale across all health systems," said Mathias.

PLUGS enables hospital labs across to decrease testing costs and errors. Seattle Children's says network members that have implemented smart utilization management have achieved savings of 10 percent or more on their sendout testing.

Within his hospital, Mathias said clinicians and IT staff are still grappling with certain aspects of precision medicine especially making better use of testing results in clinical workflow.

"There's this foundational question of, if you want data in the workflow, there has to be some EHR integration," he said. "I don't think we've really solved that question yet.

HL7 and FHIR standards are helping, he said, but "this is the tip of the iceberg we need to lower the barrier to move usable genetic data."

But while integrating genomic data remains "an ongoing challenge," said Mathias, "we are creating actionable results today."

Twitter:@MikeMiliardHITN Email the writer: mike.miliard@himssmedia.com

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GMO foods vs. GM medicine: What’s the difference in public acceptance? – Genetic Literacy Project

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This analysis sought to quantify US residents acceptance of [genetic modification (GM)] across five potential uses (grain production, fruit or vegetable production, livestock production, human medicine, and human health, i.e. disease vector control).

The two categories with the highest levels of acceptance for GM use were human medicine (62% acceptance) and human health (68% acceptance).

Acceptance of GM in food uses revealed 44% of the sample accepted the use of GM in livestock production while grain production and fruit and vegetable production showed similar levels of agreement with 49% and 48% of responses, respectively.

[R]espondents who reported being male were more likely (than those who reported female) to agree with all five of the uses of GM studied.

The results of this study align with past studies that suggest people are more willing to accept the use of GM technology for human medicine and human health reasons (62% and 68% respectively) than for livestock production, grain production, or fruit and vegetable production (44%, 49% and 48% respectively.) Notably, the proportion of survey respondent acceptance of food production uses (grain, fruit and vegetable, and livestock production) differed significantly from the proportion which accepted GM for both human health reasons and human medicine.

Being male, younger, of higher income, and college educated generally contributed to higher willingness to accept GM technology, which could be related to the access of information.

Summary of sample acceptance of GMOs across five categories/uses

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:When is genetic modification socially acceptable? When used to advance human health through avenues other than food

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GMO foods vs. GM medicine: What's the difference in public acceptance? - Genetic Literacy Project

ACOG Clinical Guidelines at a Glance: Prenatal diagnostic testing for genetic disorder – ModernMedicine

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The American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) have recently revisited and updated clinical information and recommendations on several related documents: Practice Bulletin 162, which will be reviewed in this communication; Screening for Fetal Aneuploidies (Practice Bulletin 163); Microarrays and Next Generation Sequencing Technology (Committee Opinion 682); and Carrier Screening for Genetic Conditions (Committee Opinion 691). In Practice Bulletin 162, Drs Mary Norton and Marc Jackson are the acknowledged authors on behalf of the ACOG Committee on Genetics and SMFM. Practice Bulletin 162 should be applauded for recommendations and conclusions that previous ACOG bulletins could be accused of obviating in deference to tradition.

Invasive Prenatal Diagnostic Techniques

In 2007, ACOG boldly stated in Practice Bulletin 77 that all pregnant women should have the option of an invasive procedure (chorionic villus sampling [CVS] or amniocentesis).1 This statement still holds and reflects the sensitivity of detecting fetal abnormalities being greatest with diagnostic tests using tissue obtained from an invasive procedure. New in Practice Bulletin 162 are updated risks for CVS and amniocenteses. The hackneyed and outdated allusions to a loss rate of up to 1% for CVS or 0.5% (1 in 200) for amniocenteses are no longer applicable. Pregnancy loss rate following CVS 10 weeks is now cited as 0.22% (1 in 455).1, 2 The risk of limb reduction defects with CVS is stated to be 6 per 10,000, not significantly different from the general population and as concluded by the World Health Organization in 1994.3 This risk only applies to procedures performed 10 weeks.

The loss rate following traditional amniocenteses is now stated to be 0.13% (1 in 769) in experienced hands.1 Practice Bulletin 162 does cite a 1% to 2% rate of amniotic membrane rupture, which seems unduly high in my opinion and based on a 1998 study.4 On the other hand, perinatal survival following often transient membrane rupture is, in my opinion, plausibly stated to be greater than 90%. The long-accepted conclusion that 10- to 13-week amniocentesis is not recommended was confirmed. Loss rates in multiple gestations are said to be 2%, but this is likely to be lower in experienced hands.

Laboratory Tests and Diagnostic Accuracy

The most transformative guideline in Practice Bulletin 162 is its recommendation for DNA-based microarrays to determine status of all 24 chromosomes. A karyotype is no longer recommended.

This conclusion is based, first, on the 2012 National Institutes of Child Health and Human Development (NICHD) trial of Wapner and colleagues including this author,5 followed by replication.6 The NICHD trial report compared accuracy and additional yield of microarray versus karyotype. Given a normal fetal ultrasound and a normal fetal karyotype, chromosomal microarrays identified clinically significant (chromosomal) abnormalities in 1.7% additional cases over those detected by karyotype alone. The additional abnormalities involved genomic material smaller than the 5 to 7 million base pair resolution possible with a high-resolution karyotype. If ultrasound had revealed a fetal anomaly, the yield catapulted an additional 6%. The take-home message is that an invasive prenatal procedure performed for any reason warrants a chromosomal microarray, and not simply a karyotype.

Chromosomal mosaicism is stated to occur in 0.25% of amniocenteses and in 1% of CVS samples. In amniotic fluid and in chorionic villi analysis, providers have long applied algorithms to clarify the clinical significance of abnormal, non-modal cells. If a non-modal cell line in chorionic villi is believed confined to trophoblasts (placenta), the embryo itself should theoretically be normal: confined placental mosaicism (CPM). Extant recommendations for determining clinical significance remain.

Practice Bulletin 162 was prepared, however, prior to generation of new information derived from next generation sequencing (NGS). With NGS, mosaicism is unavoidably encountered, given its greater sensitivity, more often than with chromosomal microarrays. If NGS has been recently introduced into a lab to which prenatal samples are being sent, the provider should inquire if altered criteria for prenatal diagnosis of CVS or amniotic fluid cell mosaicism is being applied. NGS is now widely used in preimplantation genetic diagnosis (PGD), for which Practice Bulletin 162 was presumably not intended.

Testing in Fetal Death or Stillbirths

Chromosomal microarrays have also replaced karyotypes as the recommended diagnostic test in evaluating tissue from a fetal demise. In addition to greater sensitivity, chromosomal microarrays do not require cultured cells. This has long been a major problem in studying miscarriages, as witnessed by a disproportionate number of 46, XX results, a reflection of unwitting laboratory analysis of maternal cells. It is difficult to avoid maternal admixture (decidua) in cultures of products of conception. With chromosomal microarrays, however, DNA alone from identifiable fetal tissue (villi) will suffice to generate results, without need for cell culture; thus, the percentage of informative cases has greatly increased (90%).

ACOG recommends that if only a karyotype were possible, cell culture should be initiated from amniotic fluid obtained by amniocentesis. This should maximize the rate of successful cell culture required for a karyotype.

Prenatal Diagnosis Procedures in Maternal Infection

Practice Bulletin 162 appropriately counsels that transmission of chronic maternal infection to the fetus is increased if an invasive procedure is performed in a mother who has hepatitis B, hepatitis C or HIV. However, risks can be mitigated. The once prohibitively high rate of maternal-to-fetal transmission in HIV is now greatly decreased when affected women receive combination antiretroviral therapy. In the study on which Practice Bulletin 162 recommendation was based, 30 of 2528 fetuses (~1% of ART-treated HIV) women were infected.7 Notwithstanding this 1%, Practice Bulletin 162 states that the risk of newborn infection is not increased after amniocenteses, presumably based on the caveat that maternal viral load is low or undetectable. A recommendation is made, however, to perform the necessary invasive procedure once viral loads are undetectable.

Conclusion

Practice Bulletin 162 states that loss rates following an invasive prenatal diagnostic procedure should now be communicated to be 1 in 769 for amniocentesis and 1 in 455 for CVS. For most practitioners, these new numbers will be more in sync with their clinical impressions. Also transformative in Practice Bulletin 162 is that chromosomal microarrays and not a karyotype should be ordered whenever an invasive prenatal procedure (CVS, amniocenteses) is performed. This holds whether evaluation is for a miscarriage or stillbirth.

References

1. American College of Obstetricians and Gynecologists Committee on Practice Bulletins: Screening for fetal chromosomal abnormalities, Practice Bulletin 77. Obstet Gynecol. 2007; 109-217.

2. Akolekar R, Beta J, Picciarelli G, Ogilvie C, DAntonio F. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2015;45:1626.

3. Kuliev A, Jackson L, Froster U, Brambati B, Simpson JL, Verlinsky Y, et al. Chorionic villus sampling safety. Report of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel Aviv, Israel, May 21, 1994. Am J Obstet Gynecol 1996;174:80711.

4. Borgida AF, Mills AA, Feldman DM, Rodis JF, Egan JF. Outcome of pregnancies complicated by ruptured membranes after genetic amniocentesis. Am J Obstet Gynecol 2000;183:9379.

5. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367:217584.

6. de Wit MC, Srebniak MI, Govaerts LC, Van Opstal D, Galjaard RJ, Go AT. Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature. Ultrasound Obstet Gynecol 2014; 43:13946.

7. Mandelbrot L, Jasseron C, Ekoukou D, Batallan A, Bongain A, Pannier E, et al. Amniocentesis and mother-to-child human immunodeficiency virus transmission in the Agence Nationale de Recherches sur le SIDA et les Hepatites Virales French Perinatal Cohort. ANRS French Perinatal Cohort (EPF). Am J Obstet Gynecol 2009;200:160.e19.

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ACOG Clinical Guidelines at a Glance: Prenatal diagnostic testing for genetic disorder - ModernMedicine

Get social data in EHRs to bring precision medicine to population health – Healthcare IT News

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BOSTON -- Personalized care depends on a lot more than a person's molecular makeup. In fact, it more often stems from larger external forces that exert a profound and often unnoticed impact on wellness: air and water quality, financial stability, the ability to get healthy groceriesand even broadband internet access.

"Precision medicine is about more than the genetics and the drugs," said Vikram Bakhru, MD, is chief operating officer at ConsejoSano, a Spanish-language health services and patient engagement platform.

At the HIMSS Precision Medicine Summit Tuesday, he explained how lifestyle, economic and environmental factors have huge effects on population health and how electronic health records need to do a better job incorporating data about social determinant data.

"We are focused on the genetic components of disease, and that's important," said Bakhru. "But we have to start understand all of the other components that really matter."

[Also:A precision medicine fight is brewing between clinicians, public health]

As much as 70 percent of a person's health is determined by social or environmental factors, he said. But despite near-ubiquity of EHRs, that crucial information is still not being logged to help guide care and treatment plans.

"When we talk about the social determinants of health, a lot of it start with the EHR, and making sure that a lot of that information is surveyed by clinicians."

Bakhru cited a study that showed that 50 percent of the information relayed from the patient to the physician during outpatient encounters was not logged in the EHR.

The question, then, is how to harness precision medicine tools that can make social determinants of health a core focus. That won't happen without more robust connectivity especially for those underserved populations that need it most.

"I think the number one issue you're going to see in the next 10 years is access to bandwidth," he said. "This is going to be our major challenge."

But there's reason for optimism, said Bakhru, who sees office visits increasingly supplanted by telemedicine, which has new momentum: recent policy shifts to bring down barriers to access to telehealth "are miraculous," he said, "the changes to state laws are incredible."

[Also:Why legal challenges could slow down precision medicine]

From there, he sees evolution toward a "new class of care" which will harness all aspects of precision medicine, genetic and social, making the most of mobile apps, connected health tools, patient engagement strategies and more.

Along the way, it's key to keep an open mind, he said.

"As we think about precision medicine, we're trying to find what works for each individual patient," said Bakhru. And as providers and tech developers work to learn what social determinants are most applicable to each of those patients how to learn from them and how to better incorporate them into care plans a spirit of experimentation is essential.

"If we all do things the same way we may never actually get there," he said. "You can't establish best practices if you haven't tried 1,000 different ways."

Twitter:@MikeMiliardHITN Email the writer: mike.miliard@himssmedia.com

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Get social data in EHRs to bring precision medicine to population health - Healthcare IT News

Genetic engineering lobbyist’s Trumpian methods – Caribbean Life

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Jomo Kwame Sundaram, a former economics professor and United Nations Assistant Secretary-General for Economic Development, received the Wassily Leontief Prize for Advancing the Frontiers of Economic Thought in 2007.

KUALA LUMPUR, June 13 2017 (IPS) - To her credit, Dr. Mahaletchumy has pioneered and promoted science journalism in Malaysia. This is indeed commendable in the face of the recent resurgence of obscurantism of various types, both traditional and modern.

But she has done herself, journalism and science a great disservice by using her position of influence to lobby for her faith in genetic engineering, promoting another obscurantism in the guise of science. In her blatantly polemical GE advocacy, she uses caricature and rhetoric to misrepresent and defame those she disagrees with.

She accuses us of spreading flawed arguments and inaccurate information, demonising private industry, and making a number of sweeping statements with inaccuracies about lower yield gains with genetically engineered crops, higher usage of herbicides, decline in crop and (sic) biodiversity, rising pest resistance, carcinogenicity of glyphosate, and increase in corporate power.

To be sure, our article was never intended for a scientific journal, but rather for IPS readers to appreciate the implications of recent research. It nevertheless provided links to relevant research for those interested, which she chose to ignore while accusing us of lying (false news) in Trumpian fashion.

Most importantly, she does not directly refute any of our arguments or the evidence that the increased output from non-GE crops has exceeded the productivity growth of GE crops due to, among others, the rise of pesticide resistance our main argument. Nor does she bother to refute the mounting evidence of greater farmer reliance on commercial agrochemicals, especially herbicides.

GE advocates cannot have it both ways. One cannot insist that only GE can increase output and productivity as well as improve farmers net incomes and the environment without offering or citing systematic evidence, and simply reject inconvenient evidence to the contrary.

Dr. Mahaletchumy fails to actually quote anything we actually wrote or to show how the sources we use are wrong. Her effort to discredit us resorts to innuendo and insinuation. While accusing us of selective citation, she has little hesitation to do what she condemns, citing only one person, Graham Brookes, not once, but twice, to make her case.

Instead of creating false news, as she claims we did, inter alia, we relied on and provided links to the US National Academy of Sciences report on Genetically Engineered Crops. The report provides an authoritative review of the now very considerable and diverse research on related issues. While the encyclopaedic volume admittedly includes a bland summary, the report itself offers a richly textured survey of evidence from many peer-reviewed studies.

She also refuses to recognize that most people go hungry in the world because they cannot afford access to the food they need and not because there is not enough food grown in the world.

Meanwhile, government and philanthropic funding of public research and development has declined while private corporate interests have been promoting GE, not exactly for charitable reasons.

We draw conclusions which other science journalists have also drawn, but instead of critically addressing our arguments, she lumps us together with GE critics, and invokes the same arguments and sources of the heavily corporate funded GE lobby.

Let me be very clear. We are keen supporters of technological progress, including biotechnology. And as we made clear, genetic modification is as old as nature itself. Unlike GE opponents, we remain open-minded about it.

Dr. Mahaletchumy is correct that there continues to be some debate over whether glyphosates are carcinogenic. This is partly why we insist on adherence to long established scientific ethics, including the precautionary principle.

But one cannot go authority shopping by dismissing the World Health Organization when it is inconvenient, and citing any body saying otherwise, especially when its authority is not relevant as she does.

We have previously shown how misleading research findings funded by the US Sugar Foundation had damaging consequences for world health for half a century.

We are also concerned about the unintended consequences of scientific progress. For example, the excessive use of cheap antibiotics for both humans and animals has generated antibiotic-resistant bacteria for every class of antibiotics, with annual mortality rates due to antibiotic resistant diseases expected to rise exponentially to ten million by mid-century.

One wonders why a journalist resorts to fraudulent misrepresentation in the cause of any advocacy, or in this case, to deceptively insist that her faith that GE is the only way forward is irrefutable science.

Updated 12:10 pm, June 14, 2017

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Former Wichitan engineers color-happy ‘disco bacteria’ – Times Record News

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Lana Sweeten-Shults , Times Record News 3:09 p.m. CT June 14, 2017

Researchers at MIT found a way to control bacteria using colored light. They projected images of such things as fruit onto culture plates using red, green and blue light, and the bacteria responded by producing the same colored pigment. The result is a kind of bacteria photocopy. One of the researchers who co-authored a paper about the technology is Felix Moser, a 2003 graduate of Wichita Falls High School.(Photo: Courtesy of Felix Moser)

Those pesky E. coli bacteria.

Engineered bacteria with multicolor vision formed this image of Mario from Super Mario Bros. Researchers at MIT projected images on culture plates using red, green and blue lights that bacteria emulated. One of the researchers who co-authored a paper about the technology is Felix Moser, a 2003 graduate of Wichita Falls High School.(Photo: Courtesy of Felix Moser)

Theyre the vexing microorganisms behind intestinal infections.

The troublesome, minuscule entities behind urinary tract infections.

When you hear about food poisoning outbreaks, some form of E.coli is often the culprit.

But, as it is, most types of E.coli are harmless.

And, if you ask biological engineer Felix Moser, a 2003 graduate of Wichita Falls High School who is now a scientist at start-up biotech company Synlife, theyre also pretty fascinating.

Moser is one of the co-authors, with fellow former Massachusetts Institute of Technology postdocs Jesus Fernandez-Rodriguez and Miryoung Song along withMIT professor Chris Voigt, of a paper that describes how researchers were able to create what Voigt has described as disco bacteria, though others might call them microbial Monets or Petri dish Ansel Adamses.

It was 12 years ago that these researchers started engineering bacteria to replicate black-and-white images bacterial photocopies, if you will by getting them to mirror the patterns of light projected onto a culture dish.

Now the researchers, whose groundbreaking work has been featured in MIT News, Nature Chemical Biology, The Economist and New Scientist, to name a few, have upped their game and introduced color to the mix.

Engineering cells to respond to light is not new, according to a May 25 article about these multicolor bacteriain The Economist. Other scientists have used optogeneticsto control nerve cells.

But former Wichitan Moser and his fellow researchers have engineered multicolor vision, not in nerve cells, butin E. coli, which are naturally blind, since they live in the very un-disco-like reaches of the intestine.

The researchers took these organisms and programmed them with a protein- and enzyme-based system, essentially, like they would a computer. They added 18 genes to the E.coli the black-and-white versions required adding only three extra genes with more than 46,000 base pairs of DNA. With these genes, the bacteria were ableto build three kinds of light sensors and can see red, green and blue.

While other scientists have controlled living cells using chemicals, Moser and his fellow scientists were able to tell the bacteria to create images of fruit and even Mario of Super Mario Bros. by shining colored light through a stencil onto a bacteria-coated plate. The E. coli, after all this human tinkering, produced enzymes that turn the bacteria into the same color of the light being shined on them.

So making pictures of bacteria its a nice example of how you would engineer them, said Moser in a phone interview about his teams disco bacteria. ... The genes tell the bacteria not only to respond to color but to turn on other genes. When the bacteria sees red light, it turns on a gene to make the red coloring.

The research shows how scientists can control cells and tell them what to do: We are engineering bacteria to respond in ways they would not normally respond.

Of course, this project, which was four years in the making, hasnt just been a fun time with bacteria.

The idea is that genetically altered bacteria could be made to produce drugs, artificial sweeteners or even perfumes.

Theres a company making perfume components, Moser said.

Instead of growing thousands upon thousands of roses to make perfume, cells could be engineered to reproduce those aromas.

The advantage would be that a lot of biological mass would be saved, sinceperfume companies wouldnt need to harvest all those roses. Also, chemicals could be made at much higher quantities.

Theres a team working on engineering salmonella to invade tumor cells and kill the tumor cells but thats really complex behavior, he said.

Moser, who was an Eagle Scout with Troop 138 growing up, ended up in Wichita Falls with his parents, who were both German citizens. His father was a T-37 instructor pilot at Sheppard Air Force Base.

He first became interested in science when he was a student at Wichita Falls High School.

Old High had a really great biology teacher, Dan Patrick. He did a fantastic job communicating his passions for science and biology, he said, and he might not have gone into the field without Mr. Patrick, he added, who would take students on summer trips to such places as Belize, Costa Rica, Honduras, Panama, Ecuador and the Galapagos Islands. Moser went on a couple of trips to South America with Patrick.

Moser did his undergraduate work at Cornell University. He wanted to join a research lab and ended up working with Cornell biochemist Dr. David Wilson.

I got really interested in using biotechnology to solve problems learning how to manipulate DNA to get organisms to do what we need them to do.

Moser got into graduate school at the University of California, Berkeley, then followed his academic adviser, Chris Voigt, to MIT, where Voigt started a new lab. Its where he finished his doctoral degree and stayed to do postdoctoral work in synthetic biology, which is a newer term for genetic engineering.

Besides controlling bacteria using colored light, Moser has written DNA to get microorganisms to do other things.

Instead of engineering bacteria to respond to light, he has engineered them to respond to environmental stresses in big tanks, such as recognizing oxygen conditions and changing which genes turn on and off so they become more robust.

Its trying to engineer them to be smarter about how they grow.

He also has expanded on the color bacteria project.

Instead of turning on the genes that produce color, we're trying to get them to produce materials.

Moser said he has used light to prompt bacteria to produce biofilm, the slimy layer you might see hanging around on the surface of water.

Some biofilm is really important in medicine, he said of his appreciation for even slimy biofilm almost as much as his appreciation for those pesky, disco E. coli.

Follow Times Record News senior editor/reporter Lana Sweeten-Shults on Twitter @LanaSweetenShul.

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French Biotech Reports Sight Restoration thanks to Gene Therapy – Labiotech.eu (blog)

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GenSight has announced Phase I/II data revealing that its gene therapy technology can restore sight in patients suffering from a rare mitochondrial disease.

GenSight Biologics develops gene therapies targeting degenerative diseases that cause blindness. The French biotech has now announced very promising results from its lead candidate, GS010, after 2 years of following patients treated with the gene therapy in an ongoing Phase I/II trial. Thetreatment targets Leber hereditaryoptic neuropathy (LHON), a rare genetic disease for which there is no curative treatment.

Patients sight was evaluated using the ETDRS test, the one consisting on recognizing increasingly smaller letters that most of us have done at some point in our life. Those patients treated with GS010 showed a statistically significant improvement in the number of letters they were able to recognize over time, especially in those that were treated within two years after their diagnosis. Detailed results after 96 weeks of follow-upare now pending publication in a peer-reviewed journal.

TE: treated eye; UTE: untreated eye

According to GenSight, 95% of LHON cases are caused by mutations in the genes that encodes the NADH dehydrogenase complex, which is involved in ATP metabolism within mitochondria. Since it affects amitochondrial gene, the disease is maternally inherited. GenSight is particularly focusing on patients with a mutation in the ND4 gene, which accounts for 70% of LHON cases in Europe and North America and up to 85% in Asia.

GenSight is already running two Phase III studies in Europe and the US evaluating GS010 in patients with the ND4 mutation that have been affected by LHON for a year or less.We are now less than a year away from Phase III efficacy data, and more than ever committed to find a cure for patients and their families affected by this devastating condition, said Bernard Gilly, CEO and co-founder of Gensight, in a statement. Philip recently interviewed him regarding his impressive track in biotech as both a serial entrepreneur and a partner at the VC firm Sofinnova.

So far, GenSight seems to be the only biotech developing a gene therapy for this disease. Ocular disorders are often rare,which leads most companies in the field to focus on age-related macular degeneration instead, which has a significantly higher prevalence. The French biotechs pipeline also includes GS011, a gene therapy to treat the ND1 mutation in LHON, still in the early research stage. The company is also working in GS030, an optogenetic gene therapyto introduce a protein that can respond to light with the aim of restoring sight in patients with retinitis pigmentosa, currently undergoing preclinical investigation.

Images via HQuality / Shutterstock; GenSight

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French Biotech Reports Sight Restoration thanks to Gene Therapy - Labiotech.eu (blog)