Sweet call on gene patents

Clinton Colmenares in our news office wrote this …

 Jim Evans is a self-proclaimed science geek whose intellect and wit move at warp speed. He rides a bike to work and wears neck ties fashioned with DNA patterns. In our popular Santa video he proclaimed that the jolly old elf is “clearly a mutant.” 

He’s also an expert in gene patenting and genetics policy. He led a program to educate federal judges about the intricacies of genetics and genetic policy. He chaired a Federal task force, part of the Secretary of Health and Human Services Advisory Committee on Genetics, Health and Society that recently made formal recommendations to the HHS secretary regarding the role of gene patents in medical diagnostics.  

James P. Evans, MD, PhD

When news broke that United States District Court Judge Robert Sweet ruled on March 29 that seven patents related to the BRCA 1 and BRCA 2 genes were invalid — genes cannot be patented, basically — we contacted Jim. So did reporters from The New York Times, the Wall Street Journal and the CBS Evening News (they decided not to run a story). 

Jim had the last quote in The Times:  

James P. Evans, a professor of genetics at the University of North Carolina, said that would not necessarily be the case. There is thriving competition in areas like testing for mutations that cause cystic fibrosis or Huntington’s disease, even though no company has exclusivity.  

“It’s quite demonstrable that in the diagnostic area, one does not need gene patents in order to see robust development of these tests,” he said.  The ruling “came as a surprise to everybody. It’s really quite unusual for plaintiffs to get a summary judgment.”

In the WSJ he said:  

“If this decision is upheld, it in the end is a win for patients and providers,” said Dr. Evans, also a medical geneticist at the University of North Carolina, Chapel Hill. 

Here are some of the comments he shared with me yesterday: 

“I think that the judge showed an impressive understanding of genetics and some of the nuances involved. I agree with him.  

“The essence of DNA is that it is an embodiment of biological information. As such it is distinct from other chemical compounds in nature. It is this informational content that makes it special and the act of isolating it therefore is less relevant to patent considerations than for other biological molecules. A gene still does the same thing (i.e. confer information) in the test tube as it does in the cell. Thus, Judge Sweet correctly noted that a gene is qualitatively different from other biological molecules such as adrenaline, which can be patented when isolated.  

“It’s a very important case, but its immediate impact shouldn’t be overestimated. It will be appealed to the Court of Appeals for the Federal Circuit, the court to which all patent cases are appealed. Then it will almost certainly be appealed to the Supreme Court, though who knows if they will agree to hear it. 

“There will be arguments about whether this ruling will be good for patients; I would say yes. The broad area of diagnostic testing is unduly hampered by gene patents and they are not necessary for the development of diagnostic genetic tests. This ruling, if upheld, will open the field of genetic diagnostics in time for the benefits of robust analytic techniques like whole genome sequencing to be applied for patient benefit.  

“While one can argue that the patent incentive may serve a more useful purpose in the realm of therapeutics, most useful therapeutic patents are considerably “downstream” of the genes themselves so I doubt that one will see any significant deleterious effect of such a ruling on therapeutics either. In broad terms I think this is a win for both patients and their providers. 

“The issue of gene patenting has been controversial since the United States Patent and Trademark Office first granted them. Such controversy and furor have arisen in part because people tend to perceive genes as different from other biological entities.  

“They are something we all share and they encode information that is unique to each of us as individuals. Thus it is difficult at one basic level to defend the patenting of genes. The idea that we would be prevented from having considerable latitude in analyzing our own genes is something that strikes people as a bit absurd on the face of it.”

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Movies, microscopes, metastasis & melanoma

Contributed by Dianne Shaw, UNC Lineberger Comprehensive Cancer Center

Jim Bear’s movies won’t win Oscars, but they may save lives. He makes movies of moving cells, movements that can help or harm the body.

Bear studies cell migration.

“Cell migration is something that’s with us from birth to death. It’s a process that happens during development when we are in the womb. It happens in our immune system when we get an infection and our white blood cells have to migrate to that site of infection. It happens inside of our brains, when neurons make connections with other neurons leading to thoughts and feelings and the things that make us ‘us.’ But it goes wrong in cancer.”

Members of the Bear Lab
Front row: Sarah Creed, Sreeja Asokan, Emma Wu, Heather Aloor
Back row: Jim Bear, Stephen Jones, Brent Hehl, Matt Kuty, Dave Roadcap

Cancer cell movement is how tumors spread or metastasize. Bear’s lab and his colleagues at UNC Lineberger are now studying the migratory process of metastasis in the lab and have learned that as in human melanomas, metastasis targets the same places- the lungs and the brain.

Bear has a personal interest in melanoma. His father died of the disease when Jim was in graduate school, and his death motivates Jim: “I want to do something about this disease to make it so that other people don’t have to go through this.”

A Howard Hughes Medical Institute Early Career Scientist Award winner, Bear is probing the steps of cell motility- how cells move- with a goal of using that knowledge to derail cancer metastasis. He conducts research on a family of proteins called coronins.

“We think these proteins have been with us for nearly a billion years on planet earth. To me, something that’s that old is doing something interesting, even if we don’t understand it. That was one of the bases on which I founded my lab.”

Coronins regulate cell migration both at the leading edge of the movement and at the point of disassembling the cell as it unattaches and moves.

Watch videos

  • In this video interview Dr. Bear talks about how he got interested in becoming a scientist and a builder of microscopes to capture cell movement. Watch now
  • In this video presentation, Dr. Bear discusses cell movement and the proteins actin and coronin. Watch now
  • This set of videos provides a tutorial on the four steps of cell movement, with cell movies narrated by Dr. Bear.

Learn more about Dr. Bear’s Howard Hughes Medical Institute Early Career Scientist Award: http://www.hhmi.org/research/ecs/bearj_bio.html and

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What would Mendel say?

We’ve come a long way since Gregor Mendel published his “Experiments on plant hybrids” in 1866.

Okay, so he didn’t discover genes, but Mendel did use the terms  “dominant” and “recessive” to describe the appearance of a character (like the color purple), which in today’s parlance is roughly the  equivalent of gene expression. In any event, the full significance of his work wasn’t fully realized until the 1930s.

Gregor Johann Mendel

So here we are, twenty years into the genomic revolution, flush with the knowledge that mutations  play a role in more than 2,000 mendelian diseases.   And scientists are just now realizing that it’s more of the rare and less of the common variants that explain inherited risk for most common diseases.

So,  why not use whole genome sequencing to identify people with a specific inherited predisposition? Cost is becoming less of a factor. Today a person’s entire genome can be decoded with great accuracy for about $50,000. And a recent report in Science notes that costs should plummet within a few years to about $4,400.

The UNC Cancer Genetics clinic has been active for 15 years and counsels patients and their families for hereditary predisposition to cancer in an effort to assess risk, make recommendations for medical management and identify other at-risk relatives for purposes of prevention.

Dr. Jim  Evans, Bryson professor of genetics and medicine, tells me the clinic has identified approximately 100 families whose history and pedigree information strongly suggest a Mendelian predisposition to cancer, but for whom available clinical genetic testing for known genes has come up empty. 

This implies that other genes may be out there, as yet undiscovered, which, when mutated, confer a high risk of cancer. “Identifying such genes would be a great boon to patients but also promises to shed considerable light on the underpinnings of cancer and its causation,” Evans says. 

The Whole Genome Analysis of High Risk Cancer Families, is being conducted by Evans along with genetic counselor Kristy Lee, MS, CGC; Jonathan Berg, MD, PhD, assistant professor of genetics; and Patrick F. Sullivan, MD, professor of genetics.

“This is an important and wonderful example of the way in which next-generation sequencing will make tremendous contributions to our understanding of disease. Whole Genome Sequencing (WGS) has now become affordable and is being applied to a host of human diseases,” Evans says.

“The most challenging aspect of WGS, however, will be the interpretation of the avalanche of information that is generated. It represents the first medical test for which everyone is guaranteed to have an abnormal result (because we are all mutants!). Thus, there are formidable challenges to using this information for patient benefit.”

Evans says he has no doubt that in the long run the information obtained will benefit patients. But he cautions we also shouldn’t be unrealistic about deriving immediate benefits for them. “Remember that we have known the molecular underpinnings of sickle cell disease for over half a century and yet the information has still not revolutionized treatment of that condition. ”

“Applying science to the health of the individual often moves in a frustratingly slow and incremental manner. But in the end, it is the only way forward,” says Evans.

Were he with us today, I’d like to think a smiling Mendel would agree.

Les Lang

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Playing metabolism tag

Welcome to …(drumroll here)…  Acetyl Tag, the new game that goes beyond the cellular nucleus to the cytoplasm, to a place where few would guess finding — let alone imagine — masses of acetylated metabolic enzymes.     

“We have discovered an entirely new layer of control of metabolism,” says Yue Xiong, Ph.D., professor of biochemistry and biophysics and a member of the UNC Lineberger Comprehensive Cancer Center.

Xiong points out that almost all previous studies on acetylation have focused on proteins in the nucleus, where acetyl tags on proteins regulate how tightly the DNA’s genetic code is packaged.  It’s known that protein acetylation plays a key role in gene expression.

But  Xiong along with study co-leader Kun-Liang Guan, professor of pharmacology at the University of California, San Diego, wanted to determine if acetylation also plays a role in the other half of the cell, the cytoplasm.

After separating the nucleus and the cytoplasm of human primary liver cells, the study team used mass spectroscopy to take a chemical census of the cytoplasm’s contents .

And to their surprise, they identified approximately a thousand new proteins that are acetylated, greatly expanding the previously recognized repertoire of fewer than one hundred.  Nearly every metabolic enzyme was acetylated, presumably because their starting material was liver, an organ rich in metabolic activity.

In addition, the researchers discovered that blocking acetylation chemically or genetically affected these metabolic enzymes in a number of different ways, either by stimulating its activity, inhibiting it, or degrading the protein itself. They suspect that acetylation is important for coordinating not only the players within a metabolic pathway but also between different pathways.

 The next step is to take their finding in normal cells and see how it can inform their study of tumor cells. The researchers are in the process of looking at each metabolic enzyme, one-by-one, to see which one displays the most disparate acetylation patterns between normal and cancer cells. They will then try to use the very same proteins that tack on or pull off those acetyl groups – called acetylases or deacetylases, respectively — to modify acetylation and thwart cancer development.

“If we can identify which enzyme or enzymes are responsible for the difference in metabolism between normal and tumor cells, then we may have  have new targets for the treating cancer patients,” says Xiong.

The study appears in the February 19 issue of  Science.

Les Lang

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Islet Package Hot spots

Despite the wintry chill down here in the land of hope and hominy,  the title of this blog post has niente to do with a travel offer  to warmer weather.

We’re talking here of a collaborative research project in which UNC scientists along with colleagues in Barcelona have generated a complete map of the areas of the genome that control which genes are “turned on” or “off.”

The discovery, made in pancreatic islet cells, could open new avenues for understanding the genetic basis of type 2 diabetes and other common illnesses.

Since the completion of the human genome project, thousands of sequences associated with human illness have been discovered. But pinpointing which sequence variations are the true culprits has proven difficult.

That’s because the underlying sequence alphabet – the letters for the  nucleotides A, C, T, and G that form the bases of the genetic code – are only part of the story.  So it’s  not just the message, but the chromatin packaging of DNA that determine which genes are active and which are not.

Jason Lieb, Ph.D.

“Most of the human genome is uncharted territory – entire stretches of sequence with no clear function or purpose,” said Jason Lieb, Ph.D., associate professor of Biology at UNC and one of the senior authors on the study. “In fact, the majority of the DNA sequences associated with disease found thus far reside in the middle of nowhere. Here we have developed a map that can guide scientists to regions of the genome that do appear to be functionally relevant, instead of a dead end.”

The research, published online Jan. 31, 2010, in the journal Nature Genetics, presents the first high-resolution atlas of these regulatory elements in the most studied cell type for treatment and prevention of type II diabetes.

Using a new method developed in the Lieb laboratory called FAIRE-seq, Lieb and his colleagues isolated and sequenced a total of 80,000 open chromatin sites within pancreatic islet cells. They then compared these sites to those in non-islet cells to narrow the number down to 3,300 clusters of sites specific to this cell type.

Each cluster typically encompassed single genes that are active specifically in islet cells. Twenty of these genes are known to harbor gene variants associated with type II diabetes.

The researchers decided to continue their studies on the variant most strongly associated with the disease, a single nucleotide polymorphism – or SNP – occurring in the TCF7L2 gene. They found that the chromatin is more open in the presence of the high risk version of the gene (a T) than in the presence of the non-risk version (an A).

Further analysis demonstrated that the risk variant enhanced the activity of the gene, indicating that it may possess functional characteristics that could contribute to disease.

Lieb says his map is likely to help others within the diabetes research community identify new targets for understanding – and ultimately treating – the disease more effectively. But the approach is not limited to diabetes, or even pancreatic islet cells.

Lieb says he plans to use FAIRE-seq to chart the open chromatin regions present within other cells, such as the immune system’s lymphocytes.

Les Lang and Marla Vacek Broadfoot

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The good doctor

“Haitian history is a chronicle of suffering so Job-like that it inevitably inspires arguments with God, and about God,” wrote George Packer in the January 25th issue of The New Yorker.

Packer then offered a litany of events and circumstances – from slavery, revolt and oppression, to American occupation and neglect, to extreme poverty, political violence, coups, gangs, and hurricanes, “and now an earthquake that exploits all the weaknesses created by this legacy to kill tens of thousands of people.”

Packer could have added that the small island nation had been plagued by endemic diseases including malaria, tuberculosis and, beginning around 1979, HIV/AIDS. Indeed, given a nearly nonexistent healthcare system at the time, Haiti had minimal defenses against the onset of that epidemic.

In 1983, while working for a medical television network aimed at physicians, I learned that the CDC had named Haitians along with three other groups – homosexuals, heroin addicts and  hemophiliacs – as high risk factors for what was then called HTLV infection – the “4H Club,” as some in the mainstream news media benightedly put it.  Ashamed to say that we who should have known better chuckled at this flippancy.

And so, during the period that the disease became increasingly identified with Haitian immigrants tothe U.S., this stigma borne of fear, confusion and racism singled out Haiti as the only country to suffer the consequences – this for a nation in which tourism was the economic backbone.

“It killed tourism in Haiti,” said Dr. Jean W. Pape in a 2006 interview. “Within a year the tourism industry decreased by 80 percent… Goods manufactured in Haiti could not be sold in the U.S.” 

And Haitians in the U.S. found it tougher finding work or selling their homes.

Dr. Jean Pape

Who is Jean Pape? He is a physician and scientist , and a bona fide hero. Honoring “heroes whose actions and courage make the world a better place,” the U.N. has praised Pape’s “achievements, courage and inspiration in contributing to breaking the silence on HIV/AIDS.”

Understanding that a solid research base was needed in Haiti in order to develop the most effective anti-AIDS strategies,  Pape established the Groupe Haitien d’Etudes du Sarcome de Kaposi et des Infections Opportunistes (GHESKIO), in 1982. The group integrates patient services, health research, and training in HIV/AIDS and inter-related diseases.

A professor of medicine at Cornell and a professor at the State University of Haiti, Pape also established Cornell’s Tropical Medicine and Infectious Disease Research Unit in Port-au-Prince. 

After completing his medical training at Cornell in 1975, he returned to his native Haiti to study childhood diarrhea.  He noted an increase in adult mortality related to diarrhea and with GHESKIO published the first comprehensive description of AIDS in the developing world in 1983. 

Since the January 12th earthquake,  GHESKIO and the good Dr. Pape has been providing humanitarian assistance and emergency care to literally thousands affected by the disaster and continues to provide life-saving medications to people with HIV/AIDS.

For a glimpse into the harrowing social and medical issues now facing Dr. Pape and GHESKIO, see this January 28, 2010, update he coauthored in The New England Journal of Medicine.

Visit GHESKIO  for a recent NBC Nightly News interview with Dr. Pape.

Les Lang

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TB or not TB

 In the Shakespearean sense, this is a brief yet knotty tale of granulomas, of organized aggregates of immune cells in which things are not what they seem.

 Viewed through the fog of traditional belief, granulomas, the nodules that are a hallmark of tuberculosis, are heroes in stemming growth of the infecting mycobacteria.

 Now it appears that science’s sunlight has dissolved a century of fog.  Analysis of mycobacteria infections in tiny zebrafish embryos reveals that the early granuloma actually facilitates mycobacterial growth.  

Enough of this overwritten drivel!  “The play’s the thing, ” the bard said. 

In brief, new research has discovered the signaling pathway by which a granuloma encourages TB pathogenesis.  And finding how to block that pathway may lead to new therapies for TB and other serious disorders. 

TB bacteria infect host macrophages in a larval zebra fish and prod epithelial cells to produce MMP9, a signaling protein associated with worsening infection. The MMP9 stained green in this mount, while the macrophages in the tubercle stained red. Credit: J.M. Davis and T. Pozos, University of Washington

In a report of the study in Science, on January 22, 2010, John F. Rawls, Ph.D., assistant professor in the UNC departments of cell and molecular physiology and microbiology and immunology,  joined co-authors from the University of Washingtion.

Their study identified a new molecular pathway that infecting mycobacteria use to coerce disease-fighting cells to switch allegiance and work on their behalf.  

Basically, the bacteria residing with immune cells called macrophages secrete the small protein ESAT-6, long implicated in virulence, which then induces nearby epithelial cells to produce the enzyme Matrix Metalloproteinase 9 (MMP9). 

Here the ball really gets rolling, as MMP9 secretion by epithelial cells is ramped up in the vicinity of an infected TB macrophage.  The enzyme’s action draws in uninfected macrophages to join the infected ones, thereby expanding the granuloma. 

Thus, according to the new research, TB bacteria simultaneously suppress the inflammatory action of macrophages to create a safe haven in them, while nudging epithelial cells to signal for the arrival of more macrophages which, in turn, are inducted into granuloma expansion. 

“The implications of these results extend beyond TB to other types of inflammation,” says Rawls. “This novel signaling cascade from bacterium to epithelium to macrophage could represent a common strategy by which other microorganisms or other factors influence the process of inflammation.” 

And so it is hoped that this discovery could help raise the curtain on some exciting innovative therapies that will bring it down on TB, arthritis, and other inflammatory disorders. Fini.

Les Lang

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Of blank slates and embryo development

The DNA contained within each of our cells is exactly the same, yet different types of cells – skin cells, heart cells, brain cells – perform very different functions.

The ultimate fate of these cells is encoded not just in the DNA, but in a specific pattern of chemical modifications that overlay the DNA structure. These modifications, or epigenetic markers as they are called, are stably carried in our genomes — except for at times when the cells change their fate, such as what occurs when the sperm meets the egg. Then they are erased completely. 

A fertilized egg prior to division. Two nuclei (one from the egg and one from the sperm) are visible in the center. Photo courtesy: Stan Beyler, PhD, UNC A.R.T. lab)

Researchers at the UNC School of Medicine have discovered a protein complex that appears to play a significant role in erasing these epigenetic instructions on sperm DNA, essentially creating a blank slate for the different cell types of a new embryo to develop. The protein complex – called elongator – could prove valuable for changing cell fate, such as converting cancer cells to normal cells, as it may be able to reactivate tumor suppressor genes by removing the epigenetic modifications that often prevent them from curbing the proliferation of cancer cells. 

The discovery may also have implications for stem cell research by providing a tool to quickly reprogram adult cells to possess the same attributes as embryonic stem cells, but without the ethical or safety issues of cells currently used for such studies. The results of the study appear on-line in the Jan. 6, 2010issue of the journal Nature

“The implications of such research have always been clear, and that is why for years researchers have tried to identify a factor responsible for erasing these epigenetic markers,” said senior author Yi Zhang, Ph.D., Howard Hughes Medical Institute Investigator and Kenan Distinguished Professor of Biochemistry and Biophysics at UNC. He is also a member of the UNC Lineberger Comprehensive Cancer Center. 

Epigenetic markers are essentially chemical tags attached to the genomes of each cell, determining which genes will be turned on or off and, ultimately, what role that cell type will have in the body. One way this comes about is through DNA methylation, a process by which methyl groups are stamped onto cytosines — one of the four bases of DNA — to produce a characteristic pattern for a particular cell. 

During fertilization, the paternal genome derived from the sperm is actively demethylated, removing these methyl tags quickly before cell division, while the maternal genome is demethylated passively. The new methylation pattern will be reestablished at a later stage. 

“Several previous studies have identified factors that can perform gene-specific DNA demethylation, but ours is the first to link a protein complex to global DNA demethylation that correlates to germ cell to somatic cell transition,” Zhang said. 

For further details, click here.

Les Lang

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Fish gotta swim, bacteria gotta…walk

The ability to swim comes as naturally to bacteria as it does to fish. In the wet, microbes propel themselves through fluids using a whip-like extension called a flaggella.

But when on solid surfaces, the little beasties also can walk, twitching along using little fibrous legs called pili.  And when they adhere to host tissue, including that of  homo saps like you and me, the pathogenesis of bacterial infection, its establishment and spread elsewhere in the body, largely depends on bacterial ability to walk. 

Now what if it were possible to prevent infection by stopping bacteria in their tracks? New research at the  University of North Carolina at Chapel Hill appears to have taken a major step in that direction.

The UNC researchers have discovered that a single atom can control how bacteria walk.  By resolving the structure of a protein involved in the motility of the opportunitistic human pathogen Pseudomonas aeruginosa, the scientists identified a spot on the bacteria, that when blocked, can indeed stop  bacterial motility cold.  

“When it comes down to it, a single atom makes all the difference,” said senior study author Matthew R. Redinbo, Ph.D., Professor of Chemistry, Biochemistry and Biophysics at UNC. His findings appear in the Dec. 28, 2009, early online edition of the Proceedings of the National Academy of Sciences.

The binding and release of a single atom (shown in light blue) to a bacterial protein is necessary for microbial walking and infection.

For the last few years, Redinbo and his team has been working in close collaboration with Matthew C. Wolfgang, Ph.D., an Assistant Professor of Microbiology and Immunology and a member of the Cystic Fibrosis/Pulmonary Research and Treatment Center at UNC, trying to figure out how bacteria’s tiny legs or pili function.

The researchers began to look at one of the many types of pili, called type IV pili. Type IV pili are basically long, dense fibers that bacteria assemble (extension) or disassemble (retraction) quite quickly.

“These pili act as grappling hooks – the bacteria extend the fibers out, the fibers attach or stick to a surface, and then retracted back into the bacteria, pulling it along,” said Wolfgang. “This crawling movement is called twitching motility, and without it Pseudomonas, a common cause of hospital-acquired pneumonia would never be able to move from the lung tissue into the bloodstream, where the infection becomes lethal.”

The researchers knew that inside the cell lie the tiny little motors – called ATPases – that drive the extension and retraction of the pili. One of these ATPases is the extension motor, which sticks the bacteria’s leg out. The other ATPase is the retraction motor, which pulls it back in. But what wasn’t clear was how the two motors were coordinated so that pushing and pulling didn’t occur at the same time. That is what Redinbo and Wolfgang set out to discover.

First, they resolved the crystal structure of the Pseudomonas PilY1 protein, which other research had shown was necessary for the creation of pili. They made large amounts of the protein, coaxed it out of solution so that it formed a crystal, and then put the crystal under intense x-ray beams through a process called x-ray diffraction that resulted in a series of spots.

Based on the spots, the researchers calculated what the protein looked like. When they studied the structure, one particular site – the binding site of a calcium atom – looked like it could be important for the function of the protein. So the researchers began to tinker with the site, looking to see if the changes they made affected the protein’s behavior.

When they changed the protein so it could no longer bind calcium, the bacteria couldn’t make any legs. When they fooled the protein into thinking it was forever bound to calcium, the bacteria made legs but couldn’t retract them, essentially becoming paralyzed. The results suggested that the protein has to bind calcium to make legs, but it also has to be able to let go of the calcium to pull the legs back in.

“We found it pretty remarkable that the binding of a single atom to a protein that is outside the cell is sufficient to tell these motors that are inside the cell to either stop pushing or stop pulling,” said Redinbo.

He says they are currently using a combination of genetics and biochemistry to figure out how this long-distance communication is possible.


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GINA swings into action

As of Saturday November 21, 2009, GINA entered the building.

Eighteen months after President Bush signed it into law, the Genetic Information Nondiscrimination Act of 2008  is officially effective.

GINA prohibits employer discrimination based on genetic information and also prohibits health insurers from denying coverage or setting rates based on a person’s genetic makeup, such as a predisposition to a disease.

This legislation is especially welcome and timely given the fact that we’re entering a new medical era in which our genomes will be increasingly explored to aid in diagnosis and treatment of disease, says James P. Evans M.D., Ph.D, Editor-in-Chief of the journal Genetics in Medicine and the Bryson Professor of Genetics and Medicine at UNC.

Dr. James P. Evans

“It is difficult enough to have to contend with a genetic disorder or disease predisposition without the added agony of worrying about what that knowledge might do to your ability to get insurance.”

Still, while a step in the right direction, GINA doesn’t afford any protection to individuals with regard to life insurance, disability or long term care insurance.

And unless comprehensive health reform  establishes requirements for insurers to offer coverage to all Americans who apply and prohibits them from denying coverage or charging more based on overall health, GINA does nothing to protect individuals from insurance discrimination once they have developed signs or symptoms of a genetic (or any other) disease.

Meanwhile,  GINA’s impact on genetic research subject recruitment remains unknown.  The government’s Office of Human Research Protections  offers an informational guidance on GINA implications for investigators and institutional review boards involved in HHS-funded genetic research.

But it remains to be seen whether or not people would be more likely now to participate in genetic research studies, to volunteer for genetic testing.

Les Lang

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