"Access to testing is really the major tool we have right now to fight this new coronavirus," says Dr. Keith Jerome, who runs a University of Washington lab in Seattle that can now test for the virus. Jonathan Hamilton/NPR hide caption

"Access to testing is really the major tool we have right now to fight this new coronavirus," says Dr. Keith Jerome, who runs a University of Washington lab in Seattle that can now test for the virus.

It's been a busy week at the virology lab run by UW Medicine, which includes the University of Washington's medical school and hospitals.

"We've already gone to three shifts," says Dr. Keith Jerome, a professor in the department of laboratory medicine who runs the lab. "People are going to be here basically all the time."

The lab is processing about 100 coronavirus tests a day. But it's prepared to do more than 1,000 a day immediately and could quickly increase that to 4,000, Jerome says.

The demand for tests is rising. Seattle is at the center of a coronavirus outbreak that has already claimed the lives of 10 people in Washington state.

One reason the lab is ready to test lots of people is its state-of-the-art equipment, including twin devices that extract genetic material from specimens.

"That all happens robotically," Jerome says, as he gives me a tour of the lab's testing area. "You can see the arms here moving back and forth. This robot is working on 96 specimens at a time. We have two of them. This is part of the magic of moving so many specimens through this laboratory."

In another area of the lab is a room full of instruments that take bits of genetic material from a virus and make millions of copies. That's critical for detecting an infection, Jerome says.

"Right now this is our limiting factor," he says, adding that they've already asked to borrow more of the instruments from other labs affiliated with the university.

But the lab's readiness also is the result of months of planning.

Jerome and other virologists started the process in January, after hearing reports about the coronavirus outbreak in China.

"Our opinion was, this is probably not going to be a problem, this is probably going to be a waste of our effort and some money, but we owe it to the people of our area to be prepared," he says.

So the scientists developed an assay and began using it test specimens sent in for research purposes.

At first, the tests found no infections, says Dr. Alex Greninger, the lab's assistant director. Then, on Feb. 28, one came back positive.

"That was on Friday at 4 p.m.," he says. "And then Saturday morning the FDA came out with a new regulation that allowed us to perform testing."

The change at the Food and Drug Administration was a new policy that allowed sophisticated labs like the one at UW Medicine to develop and use their own coronavirus tests before the agency had reviewed them.

On Monday and Tuesday, the lab quietly began accepting specimens for clinical use and preparing for high-volume testing.

"It was intense," Greninger says, adding that he and colleagues were working past midnight to make sure the system functioned properly.

But the hard part wasn't the testing itself, Greninger says, but the logistics.

For example, "how many swabs you're going to take from each patient, how you're going to handle sending results and samples to the state public health lab," he says.

Then on Wednesday, Jerome and Greninger held a press conference to announce that the lab was officially open for business.

Now they are expecting an avalanche of specimens. And that's a good thing, Jerome says.

"Access to testing is really the major tool we have right now to fight this new coronavirus," he says

Even with the lab's increased capacity, though, testing remains limited to people who have symptoms including fever and a dry cough.

"My goal is everyone who needs a test can get one," Jerome says. "And that might be different than everyone who wants a test."

Local doctors say the lab will make a huge difference.

"It's a game changer," says Dr. Seth Cohen, medical director for infection prevention at UW Medical Center Northwest. "Previously when we would send those tests to the [Centers for Disease Control and Prevention] in Atlanta it was taking three to five days to get those tests back."

Now results often come back the same day. And that means doctors and hospitals can focus resources on the patients who are truly infected.

Conserving scarce resources will become critical if the coronavirus continues to spread, Cohen says.

"We did not plan on being at the epicenter of one of the outbreaks in the United States," Cohen says. "And we are preparing for the worst."

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Coronavirus Tests: Lab At University Of Washington Was Ready : Shots - Health News - NPR

From left, College of Medicine graduate student Jamie Johnston, College of Medicine Associate Professor Jose Pinto, College of Medicine graduate student Maicon Landim-Vieira and Department of Biological Science Professor P. Bryant Chase.Photo courtesy of P. Bryant Chase.

Florida State University researchers working in an international collaboration have identified new genetic variants that cause heart disease in infants, and their research has led to novel insights into the role of a protein that affects how the heart pumps blood. It is a discovery that could lead to new treatments for people suffering from heart disease.

In two separate papers, Jose Pinto, an associate professor in the College of Medicine, and P. Bryant Chase, a professor in the Department of Biological Science, worked with doctoral students Jamie Johnston and Maicon Landim-Vieira to explore a disease that caused the heart to pump with too little force. Their work was published in the Journal of Biological Chemistry and in Frontiers in Physiology.

The researchers discovered new interactions within parts of a protein called troponin. Troponin has three parts troponin C, troponin I and troponin T that work together to regulate the hearts pumping of blood. The FSU researchers uncovered interactions of troponin C with portions of troponin T that can decrease the force of the heartbeat, something scientists had not previously noticed.

All of these proteins, they work like an orchestra, Pinto said. What is the main thing for an orchestra? To be in harmony, in balance. You need to have a good balance and you need to be in harmony, otherwise you will not produce good music. If one of these proteins is not in sync with the other proteins, you will not have your orchestra in harmony or balanced well, and then that will lead to the disease.

Most previous work had focused on interactions between troponin C and troponin I, or between troponin T and another protein called tropomyosin. The new interaction between troponin C and troponin T is an interaction that will modulate how much force the heart generates in each heartbeat, Pinto said. If you increase the number of these interactions, most likely you decrease contraction of the heart, and if you prevent these interactions, very likely you increase the force of contraction in each heartbeat.

But science sometimes leads to more questions than answers. A related study by the same FSU researchers reported a new combination of genetic variants in a different part of troponin C that also caused heart disease in infants. Rather than uncovering new interactions among the parts of troponin, this study led researchers to conclude that there must be an unknown role for troponin, possibly in the cell nucleus, Chase said.

In that research, DNA sequencing showed that a mother and a father had different variants that both affected the troponin C protein. Although their cell function was altered in such a way that researchers expected them to have heart problems, they did not show signs of heart disease. Their children, however, had both variants, and though their cell functioning appeared to be more normal, they developed deadly heart disease.

Some experiments provide a lot of immediate insight, but other times we find out that we just dont understand everything that we think we do, Chase said. As much as weve learned, as much as we do understand, theres a lot more thats unknown. And its those times that can eventually lead to brand new, unexpected insights.

Understanding the interactions between the parts of the troponin protein and also troponins various roles in heart cells will help guide new treatments for heart disease, both for the disease caused by the specific genetic variants the researchers discovered and for heart disease in general.

These diseases are caused by seemingly small changes in the DNA, Chase said. There are genetic technologies to reverse that, to introduce the common DNA sequence, but applications of genetic technologies to human disease are in their infancy and theres not a surefire and ethical way to apply changes in the genome to all the heart patients who could benefit from it. Im sure there will be ways to correct genetic variants for a number of diseases, but the medical community is only just beginning to find out how to do that safely for people.

Researchers from the FSU Translational Science Laboratory, Federal University of Rio de Janeiro, Federal University of Minas Gerais, Tel Aviv Sourasky Medical Center, Tel Aviv University and Yale University contributed to this work. The research was supported by the American Heart Association and the National Institutes of Health.

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Scientists at the Casey Eye Institute, in Portland, Ore., have have injected a harmless virus containing CRISPR gene-editing instructions inside the retinal cells of a patient with a rare form of genetic blindness. KTSDesign/Science Photo Library/Getty Images hide caption

Scientists at the Casey Eye Institute, in Portland, Ore., have have injected a harmless virus containing CRISPR gene-editing instructions inside the retinal cells of a patient with a rare form of genetic blindness.

For the first time, scientists have used the gene-editing technique CRISPR to try to edit a gene while the DNA is still inside a person's body.

The groundbreaking procedure involved injecting the microscopic gene-editing tool into the eye of a patient blinded by a rare genetic disorder, in hopes of enabling the volunteer to see. They hope to know within weeks whether the approach is working and, if so, to know within two or three months how much vision will be restored.

"We're really excited about this," says Dr. Eric Pierce, a professor of ophthalmology at Harvard Medical School and director of the Inherited Retinal Disorders Service at Massachusetts Eye and Ear. Pierce is leading a study that the procedure launched.

"We're helping open, potentially, an era of gene-editing for therapeutic use that could have impact in many aspects of medicine," Pierce tells NPR.

The CRISPR gene-editing technique has been revolutionizing scientific research by making it much easier to rewrite the genetic code. It's also raising high hopes of curing many diseases.

Before this step, doctors had only used CRISPR to try to treat a small number of patients who have cancer, or the rare blood disorders sickle cell anemia or beta-thalassemia. While some of the initial results have been promising, it's still too soon to know whether the strategy is working.

In those other cases, doctors removed cells from patients' bodies, edited genes in the cells with CRISPR in the lab and then infused the modified cells back into the volunteers' bodies to either attack their cancer or produce a protein their bodies are missing.

In this new experiment, doctors at the Casey Eye Institute in Portland, Ore., injected (into the eye of a patient who is nearly blind from a condition called Leber congenital amaurosis) microscopic droplets carrying a harmless virus that had been engineered to deliver the instructions to manufacture the CRISPR gene-editing machinery.

Beginning in infancy, the rare genetic condition progressively destroys light-sensing cells in the retina that are necessary for vision. Vision impairment with LCA varies widely, but most patients are legally blind and are only able to differentiate between light and dark or perhaps to detect movement.

"The majority of people affected by this disease have the most severe end of the spectrum, in terms of how poor their vision is," Pierce says. "They're functionally blind."

The goal is that once the virus carrying the CRISPR instructions has been infused into the eye, the gene-editing tool will slice out the genetic defect that caused the blindness. That would, the researchers hope, restore production of a crucial protein and prevent the death of cells in the retina, as well as revive other cells enabling patients to regain at least some vision.

"It's the first time the CRISPR gene-editing is used directly in a patient," Pierce says. "We're really optimistic that this has a good chance of being effective."

The study is being sponsored by Editas Medicine, of Cambridge, Mass., and Allergan, based in Dublin. It will eventually involve a total of 18 patients, including some as young as ages 3 to 17, who will receive three different doses.

"We're very excited about this. This is the first time we're doing editing inside the body," says Charles Albright, the chief scientific officer at Editas.

"We believe that the ability to edit inside the body is going to open entire new areas of medicine and lead to a whole new class of therapies for diseases that are not treatable any other way," Albright says.

Francis Collins, director of the National Institutes of Health, calls the advance "a significant moment."

"All of us dream that a time might be coming where we could apply this approach for thousands of diseases," Collins tells NPR. "This is the first time that's being tried in a human being. And it gives us hope that we could extend that to lots of other diseases if it works and if it's safe."

Pierce, Albright and others stressed that only one patient has been treated so far and that the study, still at a very early stage, is designed primarily to determine whether injecting the gene-editing tool directly into the eye is safe.

To that end, the researchers are starting with lowest dose and the oldest patients, who have already suffered extensive damage to their vision. And doctors are only treating one eye in each patient. All of those steps are being taken in case the treatment somehow backfires, causing more damage instead of being helpful.

"CRISPR has never been used directly inside a patient before," Pierce says. "We want to make sure we're doing it right."

Still, he says, if the underlying defect can be repaired in this patient and others with advanced damage, "we have the potential to restore vision to people who never had normal vision before. It would indeed be amazing."

The study involves a form of Leber congenital amaurosis known as Type 10, which is caused by a defect in the CEP290 gene.

If the approach appears to be safe and effective, the researchers will start treating younger patients.

"We believe children have the potential to have the most benefit from their therapy, because we know their visual pathways are still intact," Albright explains.

The procedure, which takes about an hour to perform, involves making tiny incisions that enable access to the back of the eye. That allows a surgeon to inject three droplets of fluid containing billions of copies of the virus that has been engineered to carry the CRISPR gene-editing instructions under the retina.

The idea is that once there, the CRISPR editing elements would snip out the mutation that causes a defect in CEP290. The hope is that this would be a one-time treatment that would correct vision for a lifetime.

If it works, the volunteers in the study might be able to have the procedure repeated on the other eye later.

"If we can do this safely, that opens the possibility to treat many other diseases where it's not possible to remove the cells from the body and do the treatment outside," Pierce says.

The list of such conditions might include some brain disorders, such Huntington's disease and inherited forms of dementia, as well as muscle diseases, such as muscular dystrophy and myotonic dystrophy, according to Pierce and Albright.

"Inherited retinal diseases are a good choice in terms of gene-based therapies," says Artur Cideciyan, a professor of ophthalmology at the University of Pennsylvania, given that the retina is easily accessible.

But Cideciyan cautions that other approaches for these conditions are also showing promise, and it remains unclear which will turn out to be the best.

"The gene-editing approach is hypothesized to be a 'forever fix,' " he says. "However, that's not known. And the data will have to be evaluated to see the durability of that. We'll have to see what happens."

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The Mercer Island School District will present its fifth annual Pathfinder Awards to Robin Bennett and Steve Hawes.

The Pathfinder Award is the districts highest alumni honor, presented to graduates of Mercer Island High School (MIHS) whose achievements, strength of character, and citizenship inspire and challenge todays youth to make significant contributions to humankind.

Bennett, Class of 1977

Inspired by her MIHS biology teacher Bill Tougaw, Bennett graduated from Kenyon College and was among the first graduates from the genetic counseling training program at Sarah Lawrence College.

She began her career at the University of Washington Medical Center as its first certified genetic counselor, where she continues to work 35 years later as senior genetic counselor and manager of the Genetic Medicine Clinic. The clinic has grown into one of the leading clinics in the country for adult and cancer genetics services.

Bennett is a leader in developing genetic counseling practice recommendations, including the criterion for a genetic family history that are now the world standard. Her book, The Practical Guide to the Genetic Family History (2nd edition) is used to train students around the world (the book is dedicated to Bill Tougaw).

She is a national and international leader in the field of genetic counseling and beyond, having served as president of the National Society of Genetic Counselors and on the board of directors of the major national and international societies in human genetics and genetic counseling. She is the first genetic counselor to receive a faculty title in the UW School of Medicine where she now is a clinical professor. She has mentored many students who are interested in genetic counseling. Bennett is the acting director of the new Masters in Genetic Counseling Program being developed in the University of Washington School of Medicine.

Hawes, Class of 1968

Nearly 52 years after he graduated, Steve Hawes name remains etched throughout the record book of the MIHS boys basketball program.

The MIHS records include most points in a game (49), most rebounds in a game (40), career rebounds, rebounds in a season and rebounds per game. He averaged 28 points per game and 20 rebounds per game in his senior season, 1967-68, which was also the first year for hall of fame coach Ed Pepple.

Hawes went on to star for four years at the University of Washington, averaging 20 points and 13 rebounds a game over his career and was later inducted into the Husky Hall of Fame and the Pacific-10 Conference Hall of Honor. Hawes was selected in the second round of the 1972 NBA draft, but chose first to play overseas in Italy. He began his NBA career in 1974 with the Houston Rockets, then played one season with Portland and seven with Atlanta before finishing his career with the hometown Seattle SuperSonics in 1983 and 1984. He returned to Italy for one final season before retiring as a player.

Hawes came home again to Seattle, serving as an assistant coach at Seattle Pacific, Seattle University and UW. He started coaching high school basketball while operating Advent Print Resources, which he sold in 2013 after 20 years. He is now in his third stint as the boys basketball coach at The Bush School.

Event

The newest Pathfinders will be honored at the Mercer Island Schools Foundations Breakfast of Champions on April 28. Register to attend the breakfast online at mercerislandschoolsfoundation.com.

A permanent Pathfinder Awards wall has been created at Mercer Island High School alongside previously recognized distinguished graduates. Seventeen (17) alumni have now been recognized since the awards began in 2016.

The recipients were selected from dozens of nominations submitted by the community at large and chosen by a selection committee comprised of staff, students, administrators, community members and alumni from the district and the Mercer Island Schools Foundation.

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March 04, 2020 -Massachusetts General Hospital (MGH) is launching a new Preventive Genomics Clinic that will help advance precision medicine and preventive care by leveraging genetic information.

The new clinic will be integrated with the primary care practices at MGH, and will aim to help patients better understand, prevent, and predict disease. MGH chose to establish the genomics clinic after receiving requests from providers and patients for greater use of genetics in clinical care.

We believe DNA testing will be a key piece of routine care in the future, said Amit V. Khera, MD, an MGH cardiologist and co-founder of the new clinic. But, in many cases, our PCPs were unsure which of the available genetic tests were most appropriate for their patients or how best to integrate that information into an individualized screening or treatment plan. Thats why it was so important for us to root ourselves within primary care from the start.

Common reasons for referral to the clinic include requests for interpretation of an existing genetic test result, concern about family history of disease, or an interest in learning about the risks and benefits of testing while still asymptomatic.

Patients meet with a genetic counselor and physician to gather personal and family history information. If patients do decide to proceed with genetic testing, the team reviews testing options, works with the patients health insurance to determine whether it would be covered, and coordinates with the patients care team to make a plan based on test results.

READ MORE: FDA Approvals Advance Precision Medicine, Genomics Treatments

What has been surprising is the majority of the tests weve ordered have been fully covered by medical insurance based on family history or other indications, said Renee Pelletier, lead genetic counselor of the new program. This speaks to the underutilization of appropriate genetic testing for our patients.

For patients who are truly asymptomatic and have no family history of disease, the clinic offers preventive genomics assessments that typically arent covered by insurance. This could include testing for the BRCA1 mutations, which signal very high risk for breast and ovarian cancer, as well as mutations that can lead to high cholesterol levels and risk for early heart attack. In both of these cases, treatment options exist that can help patients overcome these genetic risks.

The team has also launched an eConsult program, which allows any physician to request a review of his or her patients medical record by the Preventive Genomics Clinic. Staff at the clinic can then determine whether genetic testing or a clinic appointment would be beneficial for the patient. Additionally, the team can answer questions about ordering new genetic testing or interpreting prior genetic testing results.

In many cases, we are able to answer a key clinical question just based on review of medical records, said Leland Hull, MD, a primary care physician in the group. For others, we recommend they be seen in our clinic or one of the several subspecialty clinics available at MGH for more detailed evaluation.

In the future, the clinic expects to see patients who learn about high genetic risk from ongoing research studies, including the Partners HealthCare Biobank or the NIH All of Us Research Program. Over the next several years, these programs are expected to perform sequencing of more than 100,000 participants in the Boston area.

READ MORE: New Precision Medicine Program to Study Role of Genomics in Disease

As the healthcare industry has increasingly recognized the important role precision medicine and genomics can play in patient health, more organizations are supporting the integration of genetic testing with routine clinical care.

Recently, a group of stakeholders launched the Institute for Gene Therapies (IGT), which will aim to modernize the US regulatory and reimbursement framework to ensure gene therapies for patients who need them.

The incredible scientific advancements in this space present unique opportunities to directly improve and save the lives of patients suffering from debilitating diseases, said IGT Chairman and former Congressman Erik Paulsen.

This is not some far-off future patients are already benefiting from the first FDA-approved gene therapies. But we need policy to move faster toward this new reality where we can treat the causes of many diseases. The Institute for Gene Therapies and our members believe unique regulatory and reimbursement structures need to be established, novel development pathways need to be embraced and new value-based arrangements need to be tested.

With the launch of the Preventive Genomics Clinic, MGH will help further incorporate novel tests and treatments into everyday healthcare delivery.

Its exciting to know we can now support access to genomics long before disease develops, promoting the best outcomes for our patients, said Heidi Rehm, PhD, chief genomics officer at MGH. Our goal is to build this resource for our own community and collaborate with other hospitals across the country in defining the best models for this new type of preventive clinical care.

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