Category Archives: Genetic Medicine

What follows below is a timeline of events, from the moment Katherine may have been exposed to the virus, to her struggle to get tested in the name of responsibility, more than finding out for herself.

We are not using Katherines last name because she does not want stigma attached to the small clinic where she works.

Katherine hangs out with a friend whose grandmother lives at Life Care Center in Kirkland. The nursing home would later be identified as the epicenter of the coronavirus outbreak in the U.S.

At this point, as far as anyone knows, there has been just one person in the Seattle area with coronavirus a man in his 30s who traveled to Wuhan, China, and who had been isolated at a hospital in Everett.

Unbeknownst to Katherine, someone from nursing home is transferred out of the building on this day. That person would late test positive for COVID-19.

And Kirkland firefighters are starting to notice an unusual number of calls coming in from the Kirkland nursing home for respiratory distress and fever, both symptoms of coronavirus.

Katherine feels sick. Still, she boards a plane at Sea-Tac Airport and flies to Sun Valley, Idaho, for a family ski trip.

It was just a bad sore throat at first, she says. I thought maybe I had strep. I looked in my throat but there were no white patches.

She starts to cough. She is sweaty. The sore throat goes away, and she loses her voice almost entirely. Taking in a full breath is difficult.

Its not like I was deathly ill, though, she says. I went skiing. I felt like shit, and I was breathing way harder than I should be, and my family was laughing at me you are too sick to be skiing. But I really wanted to be here.

Its flu season and Katherine, prone to getting sick, thinks, here we go again. The coronavirus doesnt cross her mind.

Katherine flies home to SeaTac Airport.

Katherine returns to work.

Katherine has friends over for a sleepover.

Katherine learns over the weekend that her friends grandmother is at the nursing home where there has been a coronavirus outbreak. Her friends grandma is sick, but not sick enough to warrant testing, per the CDC guidelines of that moment.

It isnt until this Monday morning, back at work, still coughing hard, that Katherine gets a sinking feeling.

She calls her boss and says she will leave the building.

She goes to the department of health website, which tells her to call a COVID-19 hotline. She calls the hotline, and an automated recording tells her to check the website, and then hangs up on her.

Hoping for relief from her cough, Katherine downloads an app from the University of Washington Medicine that would allow her a virtual doctors visit. She is prescribed a cough suppressant and an inhaler.

Katherine sees that the UW has instructions to call a community care nurse line, and she calls that number. Katherine feels she has a duty to report if she has coronavirus although she has quarantined herself, she believes public health would want to know where the cases are. She has been so many places, after all, traveled to Idaho, spent time with her parents, who are in their 60s. Public health might want to know, she reasons.

A nurse named Pam calls to say the testing guidelines changed two hours earlier, and that Katherine can get tested but needs a doctor prescription.

Katherine is flummoxed. Contacting her doctor means leaving a message in a web portal or with a call center. Its not as simple as just making a call. She leaves a message through the UW web portal and gets two phone calls from people at UW, asking more questions about her exposure and symptoms.

Katherine wakes at 4 a.m., then 5 a.m., from coughing so hard. Her back and stomach are sore.

A nurse named Angela calls her from UW. She says the guidelines have changed again and that someone from Harborview Medical Center would text Katherine questions, and then decide, based on her answers, whether to go to her house to test her.

Harborview does not text.

A nurse named Kara calls Katherine, asking if Harborview has been in touch.

We want you to get tested, Kara says, according to Katherine, who has started taking detailed notes of each interaction she has with a medical provider. You can go to the medical center or Harborview ER.

Katherine says she is closer to the University of Washington.

Im going to call in the test right now, and youre going to go in right now and youre going to get tested, Kara says. Before they hang up, Kara says, Tell them that Susan Kline wants this.

Susan Kline is the director of nursing care and coordination for UW Medicine Neighborhood Clinics.

Katherine arrives at the University of Washington emergency room. People in the waiting room: A lady with a terrible migraine, a guy with an injured leg, a guy with neck pain, three or four other people with masks and with coughs.

She is checked in, given a bracelet, and swabbed. Someone puts a mask on her and returns her to the waiting room.

Ping. An email lands in Katherines phone, telling her that she owes $206 for this emergency room visit, after insurance. The before-insurance cost is $1,643.

The results are in. She is negative for the flu, A and B, and RSV. No mention of coronavirus.

A nurse practitioner asks Katherine if her friends grandmother has tested positive. No, she hasnt, Katherine says, because the grandma has not been hospitalized, and only those residents sent to EvergreenHealth community hospital in Kirkland are getting tested.

The nurse practitioner says that Katherine will not be tested, and that Katherine should not have come in.

Katherine reminds her that she was told to come in, and the nurse practitioner replies. Well have to work on that.

Thats when I was like, they must have really limited test kits. Or theyre taking a different approach to this.

Katherine makes a mental note to call the billing department. I cant afford a $200 bill for four hours in the emergency room for a flu swab. They said, We want you to get tested. I was instructed by UW employees to get tested. I did my due diligence.

Katherine receives her discharge papers and is told to leave.

Katherine texts her mom, who is 65, to check if she has symptoms. Her mother is fine. She tells the people who slept over on Friday that she is sick, and that they can download an app to see a doctor via virtual visit.

Im Typhoid Mary, Katherine said. If I do have it, I spread it to Idaho. I was on a plane with multiple people, and god knows where they went. I was in two airports.

Katherine reports herself to the employee COVID-19 testing, fills out a survey. She receives a call within hours and is assigned an appointment to get tested. She makes an appointment for a drive-through test for the next day.

Katherine drives to an underground garage at Northwest Hospital in north Seattle. There are three white tents set up, with lab techs in head-to-toe protective gear.

Its very smooth, and they are clearly running a tight ship, Katherine texts after her appointment in the parking garage.

They tell her results should be in 24 to 36 hours. She asks what test kits they are using because some of the kits have been shown to not work.

"COVID is 24 to 36 hours, I'm told," a guy named Jeff tells Katherine. Katherine has taken audio of the moment to make sure she gets the quotes right. "This is the first day we're doing it, so we'll see if that's true."

They took different kinds of swabs than the ER, Katherine says by text. The ER took a nasal swab (inside my nostrils) and these swabs were nasopharyngeal, which (to my knowledge) is considered a superior specimen.

She asks about the test, and Jeff replies that he is not a lab person, so he doesn't know exactly what test it is. "I just know that it's brand new," he says.

Jeff gives her a blue sheet of paper to show at the gate when she leaves.

When you go to leave, don't roll down your window," Jeff says. "Just slap it up to the window and they'll let you out."

Katherine wonders if a test would be able to detect coronavirus given that 11 days have passed since the onset of her symptoms.

She knows the flu test works best when taken within three to four days of when symptoms begin. Same goes for the SARS, a coronavirus from 2003, for which positive tests showed up when samples were collected when there was viral genetic material in the specimen.

Katherine says this of the process so far:

I definitely see an overall picture of how my communication has gone through four or five different channels, none of whom are communicating or able to communicate behind the scenes, she wrote.

I can see that being a major challenge how to collect and process what must be huge quantities of information both accurately and efficiently.

Her insurance plan is entirely University of Washington based an option for UW employees which means that her doctor, emergency room, public health and employer are part of the same system. It would be even harder, she said, for people whose care is spread across various medical systems.

I imagine an organized efficient and accurate response is even more difficult as information and protocols continue to change, she said.

The results are in. Katherine tests negative for coronavirus.

"It's a big relief for me," she says by text. "Not because I'm worried about myself -- I know I'm young and relatively healthy. But both my parents are over the age of 60 -- they're in the at-risk category. I have friends with chronic illnesses that make them at risk, and friends who are immuno-compromised. It's important to me that I am a responsible community member and neighbor and friend."

I muse that she could have also been disappointed -- because it's exciting to be part of a big story.

"We're all part of the big story," Katherine replies, "because we're all part of the human story, the global community."

Read this article:
Diary of a maybe-coronavirus patient in Seattle who could not get tested - KUOW News and Information

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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Mercer Island high grads to be honored Bennett and Hawes - Mercer Island Reporter

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.

Go here to read the rest:
New Genomics Clinic Will Enable Preventive Care, Precision Medicine - HealthITAnalytics.com

BETHESDA, Md., March 4, 2020 /PRNewswire/ --Sarah H. Elsea, PhD, FACMG, professor of molecular and human genetics at Baylor College of Medicine and senior director of biochemical genetics at Baylor Genetics, has been elected to the board of directors of the ACMG Foundation for Genetic and Genomic Medicine.The ACMG Foundationis a national nonprofit foundation dedicated to facilitating the integration of genetics and genomics into medical practice. The board members are active participants, serving as advocates for the Foundation and for advancing its policies and programs. Dr. Elsea was elected to a two-year term starting immediately.

"It is our pleasure to welcome Dr. Sarah Elsea to the ACMG Foundation Board of Directors. Dr. Elsea's experience in medical genetics and commitment to the mission of the College will add greatly to our ability to support clinical and educational activities on behalf of our members and the public," said ACMG Foundation President Bruce R. Korf, MD, PhD, FACMG.

Dr. Elsea received a Bachelor of Science in Chemistry with a minor in biology from Missouri State University and a PhD in biochemistry from Vanderbilt University. She completed postdoctoral fellowships in molecular and biochemical genetics at Baylor College of Medicine and is board certified by the American Board of Medical Genetics and Genomics.She held faculty appointments at Michigan State University and the Medical College of Virginia at Virginia Commonwealth University prior to returning to Baylor College of Medicine in 2013. Her research is focused on the discovery, pathomechanisms, diagnosis and treatment of rare and complex disease, particularly neurodevelopmental and metabolic disorders that involve sleep disturbance, behavioral phenotypes, obesity and cancer. While most of the work in Dr. Elsea's lab has a molecular basis, her work with children and families living with Smith-Magenis syndrome and other neurodevelopmental disorders has focused several studies toward the family, sibling and caregiver experience for those caring for and living with individuals with complex neurodevelopmental conditions. Her primary goals have focused toward supporting education and research to develop appropriate interventions to improve the health and quality of life of persons with neurodevelopmental and metabolic disorders using an integrated approach to education, outreach and mentoring. Dr. Elsea works collaboratively with support groups to develop relevant, targeted research to inform and improve upon quality of life for individuals affected by genetic conditions. Dr. Elsea serves on the board of directors of the American Board of Medical Genetics and Genomics and is chair of the Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS) Professional Advisory Board.

About being elected to the ACMG Foundation Board of Directors, Dr. Elsea said, "As we focus toward defining targeted treatments for both rare and common disease, we have an increasing need to translate genetics in healthcare.The mission of the Foundation to support and foster the training and education of medical geneticists and to enhance community education and awareness of genetics and genomics is at the heart of my work. I am both honored and delighted for the opportunity to support the ACMG Foundation Board of Directors, and I look forward to working with the Foundation to advance these goals."

A complete roster of the ACMG Foundation board can be found at http://www.acmgfoundation.org.

About the ACMG Foundation for Genetic and Genomic Medicine

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics and genomics in healthcare. Established in 1992, the ACMG Foundation supports the American College of Medical Genetics and Genomics (ACMG) mission to "translate genes into health." Through its work, the ACMG Foundation fosters charitable giving, promotes training opportunities to attract future medical geneticists and genetic counselors to the field, shares information about medical genetics and genomics, and sponsors important research. To learn more and support the ACMG Foundation mission to create "Better Health through Genetics" visit acmgfoundation.org.

Kathy Moran, MBAkmoran@acmg.net

View original content to download multimedia:http://www.prnewswire.com/news-releases/sarah-elsea-phd-facmg-is-elected-to-the-board-of-directors-of-the-acmg-foundation-for-genetic-and-genomic-medicine-301015856.html

SOURCE American College of Medical Genetics and Genomics

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Sarah Elsea, PhD, FACMG Is Elected to the Board of Directors of the ACMG Foundation for Genetic and Genomic Medicine - BioSpace

The global market for precision medicine is projected to top more than $84.5 billion by 2024. Targeted therapies for rare, genetic diseases, cancer and chronic conditions come with the hope of a cure.

Companies such as Roche, Novartis, Spark Therapeutics (now owned by Roche), Pfizer, Editas Medicine, and BioMarin Pharmaceuticals are among the pharma players in this space. There seem to be new developments in precision medicine on almost a weekly basis.

So what do educational institutions need to do to create fertile ground for gene therapy research to produce the next generation of companies developing these therapies? And what needs to happen to facilitate data sharing, ensure access to genome sequencing and these promising therapies?

A new eBook highlights compelling conversations around a couple of events that took place during the JP Morgan Healthcare conference in January this year. One, hosted by the Penn Center for Innovation, offers a showcase of the latest biotech innovations emerging from Penn and the Perelman School of Medicine. Another, hosted by Deloitte and P4ML, drew attention to an initiative by the World Economic Forum to improve the way genomic data is shared to develop better treatments for rare diseases and ethical considerations for access to precision medicine.

Fill in the form below to download the eBook, The Pathway to Precision Medicine.

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A snapshot of the precision medicine landscape - MedCity News

The image this month shows the three vascular layers of the retina that are important for normal visual function.

Vision begins in the retina, a light-sensing network of brain cells in the eye that is critical for our ability observe the world around us. Vision also depends on the retina having a properly developed and maintained layout of blood vessels that provides nutrients and oxygen. The image is part of a study led by Dr. Melanie Samuel at Baylor College of Medicine that discovered novel genes involved in the organization of vascular layers in the mouse retina.

Read about Dr. Samuels study in Cell Reports and in From the Labs.

The Samuel lab combines nanoscopic imaging tools and techniques for circuit analysis, novel genetic animal models and computational approaches to circuit mapping to discover the mechanisms, genes and molecules involved in regulating nervous system networks.

Dr. Melanie Samuel is assistant professor of neuroscience and the Huffington Center on AgingatBaylor College of Medicine. She also is part of BaylorsDan L Duncan Comprehensive Cancer Center and a CPRIT Scholar.

By Ana Mara Rodrguez, Ph.D.

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IMAGE OF THE MONTH: Layers of blood vessels in the retina - Baylor College of Medicine News