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Category Archives: Genetic Medicine

Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting – BioSpace

SALT LAKE CITY, Oct. 28, 2019 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced that it will present results from seven studies at the 2019 National Society of Genetic Counselors (NSGC) annual meeting being held Nov. 58, 2019 in Salt Lake City.

"We are excited to present new data from seven studies at this years NSGC meeting," said Susan Manley, MS, CGC, MBA, senior vice president of Medical Services at Myriad Genetics. Our presentations highlight the companys commitment to advancing precision medicine in oncology and womens health.

A list of presentations at 2019 NSGC is below. Please visit Myriad Genetics at booth #711 to learn more about our leading portfolio of precision medicine products. Follow Myriad on Twitter via @myriadgenetics and follow meeting news by using the hashtag #NSGC19.

myRiskHereditaryCancer

ForesightCarrierScreen

AishwaryaArjunan

PrequelTMPrenatalScreen

About Myriad myRisk Hereditary CancerThe Myriad myRisk Hereditary Cancer test uses an extensive number of sophisticated technologies and proprietary algorithms to evaluate 35 clinically significant genes associated with eight hereditary cancer sites including: breast, colon, ovarian, endometrial, pancreatic, prostate and gastric cancers and melanoma.

AboutForesight Carrier ScreenThe Myriad Foresight Carrier Screen is designed to maximize detection of at-risk couples for serious, prevalent, and clinically-actionable conditions. Foresight has a rigorous disease selection that focuses on 175+ conditions that provides meaningful information to patients. Additionally, Foresight offers superior technology with unmatched detection rates for the vast majority of genes on the panel (>99% across ethnicities) which means patients can trust both positive and negative results.

About PrequelTM Prenatal ScreenThe Myriad Prequel Prenatal Screen is a noninvasive prenatal screen that uses cell-free DNA (cfDNA) to determine if a pregnancy is at an increased risk for chromosome abnormalities, such as Down syndrome. Prequel has been shown to be superior to screening methods that use maternal age, ultrasound and serum screening. Additionally, Prequel has a lower false-positive rate and false-negative rate than these other methods. The Prequel Prenatal Screen can be ordered with the Foresight Carrier Screen and offered to all women, including those with high body mass index, and ovum donor or a twin pregnancy.

About Myriad GeneticsMyriad Genetics Inc. is a leading precision medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on five critical success factors: building upon a solid hereditary cancer foundation, growing new product volume, expanding reimbursement coverage for new products, increasing RNA kit revenue internationally and improving profitability with Elevate 2020. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice HRD, EndoPredict, Vectra, GeneSight, riskScore, Prolaris, Foresight and Prequel are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor StatementThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to data being presented for its genetic tests at the 2019 National Society of Genetic Counselors Meeting being held Nov. 58, 2019 in Salt Lake City; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decision in the lawsuit brought against us by the Association for Molecular Pathology et al; risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Myriad Genetics to Present Seven Studies at the 2019 National Society of Genetic Counselors Annual Meeting - BioSpace

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Genome Sequencing In NICU Can Speed Diagnosis Of Rare Inherited Diseases : Shots – Health News – NPR

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Nathaly Sweeney, a neonatologist at Rady Children's Hospital-San Diego and researcher with Rady Children's Institute for Genomic Medicine, attends to a young patient in the hospital's neonatal intensive care unit.

When Nathaly Sweeney launched her career as a pediatric heart specialist a few years ago, she says, it was a struggle to anticipate which babies would need emergency surgery or when.

"We just didn't know whose heart was going to fail first," she says. "There was no rhyme or reason who was coming to the intensive care unit over and over again, versus the ones that were doing well."

Now, just a few years later, Sweeney has at her fingertips the results of the complete genome sequence of her sickest patients in a couple of days.

That's because of remarkable strides in the speed at which genomes can be sequenced and analyzed. Doctors who treat newborns in the intensive care unit are turning to this technology to help them diagnose their difficult cases.

Sweeney sees her tiny patients in the neonatal intensive care unit of Rady Children's Hospital in San Diego. Doctors there can figure out what's wrong with about two-thirds of these newborns without a pricey DNA test. The rest have been medical mysteries.

"We had patients that were lying here in the hospital for six or seven months, not doing very well," she says. "The physicians would refer them for rapid genome sequencing and would diagnose them with something we didn't even think of!"

Rady's Institute for Genomic Medicine, which has been pioneering this technology, has now sequenced the genomes of more than 1,000 newborns.

In a building across the street from the hospital, three $1 million sequencing machines form the core of the operation. Technicians tending to the NovaSeq 6000s can put DNA from babies (and often their parents) into the machine in the late afternoon and have a complete genome sequence back by 11 a.m. or noon the next day, says clinical lab scientist Luca Van der Kraan.

That fact is worth repeating: An entire genome is decoded in about 16 hours.

Kasia Ellsworth is one of the experts waiting in a nearby office to analyze the information. That task has shrunk from months to typically just four hours, thanks to increasingly sophisticated software.

Ellsworth inputs the baby's symptoms into the software, which then spits out a long list of genetic variants that might be related to the illness. She scrolls down the screen.

"I'm looking through a list of those variants and then basically deciding whether something may be truly contributing to the disease or not," she says.

About 40% of the time, a gene stands out, giving doctors a tentative diagnosis. Follow-up tests are often requested, and those can take several days. But in the meantime, doctors can sometimes act on the information they have in hand.

When she or a colleague makes a diagnosis, "You always feel very relieved, very happy and excited," she says. "But at the same time you kind of need to put it in perspective. What does it mean for the family, for the patient, for the clinician as well?"

Often it's a sense of relief. And for a minority of cases, it can affect the baby's treatment.

"We now are at the point where I think the evidence is overwhelming that a rapid genome sequence can save a child's life," says Dr. Stephen Kingsmore, the institute's director and the driving force behind this revolution.

By his reckoning, the results change the way doctors manage these cases about 40% of the time.

Treatments are available for only a small share of these rare diseases. In other cases, the information can help parents and doctors understand what's wrong with their baby even if there is no treatment or learn whether death is inevitable. "And there it's a very different conversation," Kingsmore says. "We help guide parents through picking an appropriate point at which to say enough is enough" and to end futile treatments.

Of course, Kingsmore highlights the happier outcomes. One example is a bouncy girl named Sebastiana, now approaching her third birthday.

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

As a newborn, Sebastiana Manuel was diagnosed with a rare disease after rapid genome sequencing. She is seen here at 11 months of age.

He showed off her case recently in front of the Global Genes conference, a meeting of families with rare genetic conditions.

"She was critically ill in our intensive care unit," he tells the audience, "and in a couple of days we gave the doctors the answer. It's Ohtahara syndrome. It comes with this specific therapy. And she hasn't had a seizure in 2 1/2 years. She doesn't take any medication."

The audience applauds enthusiastically at an outcome that sounds miraculous. But when you meet Sebastiana and her mother, Dolores Sebastian, a more complicated story emerges.

Ohtahara syndrome isn't actually what made Sebastiana ill it's a term doctors use to describe newborn seizures. Those are actually a symptom of deeper brain issues. That was apparent the day she was born.

"She was acting weird and screaming and crying and turning purple and we weren't sure why," her mother says.

The hospital where Sebastiana was born rushed her to the neonatal intensive care unit, across town at Rady. She was having frequent seizures. The following days were a nightmare for Sebastian and her husband.

"I can't even describe it," she says. "I always keep on saying that at that moment I was kind of like dead, but I was walking."

The hospital ran a battery of tests to look for severe brain damage. They couldn't get to the bottom of it.

"They came in and offered us the genomic testing," Sebastian said. "They never told us how quick it would be."

She was surprised when the results were back in four days. The doctor told her they had identified a gene variant that can trigger seizures as well as do other harm to the brain.

"He said this is how we're going to go ahead and change her medications now and treat her," she says. And that made a "huge difference, [an] amazing difference."

Sebastiana was already on a medication that was helping control her seizures, but they sedated her to the extent that she needed a feeding tube. On the new medication, carbamazepine, she was alert and able to eat, and her seizures were still under control. Sebastian says her daughter is still taking that drug.

Controlling her seizures isn't a cure. Children who have this genetic variant, in a gene called KCNQ2, can have a range of symptoms from benign to debilitating. Sebastiana falls somewhere in between. For example, she has only a few words in her vocabulary as she approaches the age of 3.

"She took her first steps when she was 2 years old, so she's delayed in some things," Sebastian says, "but she's catching up very quickly. She has [physical therapy]; she's going to start speech therapy. She gets a lot of help but everything's working."

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel. Jenny Siegwart/Rady Children's Institute for Genomic Medicine hide caption

Sebastiana Manuel (second from left) with members of her family: Domingo Manuel Jr. (from left), Dolores Sebastian and Tony Manuel.

KCNQ2 variants are the most common genetic factor in epilepsy, causing about a third of all gene-linked cases and about 5% of all epilepsies. Sebastiana's case could have been diagnosed with a less expensive test. For example, Invitae geneticist Dr. Ed Esplin says his company offers a genetic screen for epilepsy that costs $1,500 with a two-week turnaround or at a higher price for an urgent job.

Rady's whole-genome test costs $10,000, Kingsmore says. But it casts a wider net, so it might provide useful information if a baby's seizures are caused by something other than epilepsy.

And Kingsmore says his test costs about as much as a single day in the NICU. "In some babies we avoid them being in the intensive care unit literally for months," he says.

Kingsmore and colleagues have published some evidence that their approach is cost-effective, based on an analysis of 42 cases.

Even so, most insurance companies and state Medicaid programs are still balking at the cost. Kingsmore says private donors are helping support this effort at Rady, which sequences about 10% of the babies in the NICU, and at more than a dozen others scattered from Honolulu to Miami. They send their samples to Rady for analysis.

Kingsmore is pushing to expand his network in the next few years, to reach 10,000 babies at several hundred children's hospitals.

Other providers are also starting to offer whole-genome sequencing. But Dr. Isaac Kohane, chair of the department of biomedical informatics at Harvard Medical School, worries that the technology is too unreliable.

Knowledge of genes and disease is evolving rapidly, so these analyses run the risk of either missing a diagnosis or making a mistaken one. Kohane says there's still a lot of dubious information there a typical person has 10 to 40 gene variants that the textbooks incorrectly identify as causing disease.

Kohane is part of a medical network that helps diagnose people with baffling diseases. A study from 2018 found "a third of the patients who actually come to us already had full genome sequences and interpretations," Kohane says. "They were just not correct."

Even so, Kohane sees this use in the NICU as a relatively fruitful use of gene sequencing. "This is one of the few areas where I think the Human Genome Project is really beginning to pay off in health care," he says, "but buyer beware, it's not something ready to be practiced in every hospital." (He supports the work at Rady in fact, he is a science adviser.)

Kingsmore is already looking ahead. "We want to solve the next bottleneck, which is, 'I don't have a great treatment for this baby,' " he says. That's a far greater challenge, and it's especially difficult for a mutation that has altered a baby's development in the womb. Those problems may often not be reversible.

Kingsmore is undeterred. "It's going to be an incredibly exciting time in pediatrics," he says.

You can contact NPR science correspondent Richard Harris at rharris@npr.org.

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FDA approves drug to treat cystic fibrosis in patients 12 and olderand it will cost $311,503 – The Daily Briefing

FDA on Monday announced that it has approved Trikafta, the first-ever triple combination therapy to treat cystic fibrosis (CF) in patients ages 12 and older who have a genetic mutation that affects the vast majority of CF patients.

Infographic: 6 ways your pharmacist can save the day

CF is a progressive, life-threatening disease that causes thick mucus to accumulate in parts of the body, including the lungs and digestive tract. The disease results in serious respiratory and digestive problems, along with other complications, according to FDA.

Vertex Pharmaceuticals' Trikafta is a combination of elexacaftor, ivacaftor, and tezacaftor. The drug is approved to treat patients 12 and older who have at least one F508del genetic mutation, which is estimated to affect about 90% of the CF population, or about 27,000 people in the United States, according to FDA.

Trikafta was shown to be effective in two clinical trials. The first was a 24-week, randomized, double-blind, placebo-controlled trial in 403 patients with an F508del mutation. The second was a four-week, randomized, double-blind, active-controlled trial in 107 patients with two identical F508del mutations.

In the trials, Trikafta was shown to improve lung function by about 14% compared to about a 3% improvement in patients treated with Orkambi, a double-combination CF treatment currently available.

Trikafta will cost $311,503 annually, or $23,896 per 28-day pack, according to the Securities and Exchange Commission. Analysts expect the drug to make $630 million in 2020, Reuters reports.

Acting FDA Commissioner Ned Sharpless in a release said, "In the past few years, we have seen remarkable breakthroughs in therapies to treat cystic fibrosis and improve patients' quality of life, yet many subgroups of cystic fibrosis patients did not have approved treatment options. That's why we used all available programs ... to help advance today's approval in the most efficient manner possible, while also adhering to our high standards."

Reshma Kewalramani, chief medical officer at Vertex, in a release said, "The incredible speed of this approval underscores our shared sense of urgency withthe CF community for bringing this medicine to eligible people with CF, particularly those without a medicine targeting the underlying cause of their disease" (Fernandez, Axios, 10/21; Maddipatla/O'Donnell, Reuters, 10/21; Brooks, Medscape, 10/21; FDA release, 10/21).

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FDA approves drug to treat cystic fibrosis in patients 12 and olderand it will cost $311,503 - The Daily Briefing

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Sarepta Therapeutics to Announce Third Quarter 2019 Financial Results and Recent Corporate Developments on November 7, 2019 – BioSpace

CAMBRIDGE, Mass., Oct. 24, 2019 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc.(NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, will report third quarter 2019 financial results after the Nasdaq Global Market closes on Thursday, November 7, 2019. Subsequently, at 4:30 p.m. E.T., the Company will host a conference call to discuss its third quarter 2019 financial results and to provide a corporate update.

The conference call may be accessed by dialing (844) 534-7313 for domestic callers and (574) 990-1451 for international callers. The passcode for the call is 8998299. Please specify to the operator that you would like to join the "Sarepta Third Quarter 2019 Earnings Call." The conference call will be webcast live under the investor relations section of Sarepta's website at http://www.sarepta.com and will be archived there following the call for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

AboutSarepta TherapeuticsSarepta is at the forefront of precision genetic medicine, having built an impressive and competitive position in Duchenne muscular dystrophy (DMD) and more recently in gene therapies for Limb-girdle muscular dystrophy diseases (LGMD), MPS IIIA, Pompe and other CNS-related disorders, totaling over 20 therapies in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. Sarepta is fueled by an audacious but important mission: to profoundly improve and extend the lives of patients with rare genetic-based diseases. For more information, please visit http://www.sarepta.com.

Internet Posting of InformationWe routinely post information that may be important to investors in the 'For Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

Investors:Ian Estepan, 617-274-4052iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566tsorrentino@sarepta.com

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Genome sequencing data to help in predictive and preventive medicine – Down To Earth Magazine

Minister Harsh Vardhan claims project will help in cost-effective, precision medicine

Research laboratories working under the Council of Scientific and Industrial Research (CSIR) on Friday announced completion of whole genome sequencing of 1008 Indian individuals representing diverse ethnic groups in the country. The data will act as baseline information for developing various applications in predictive and preventive medicine.

The genomic data will help scientists understand genetic diversity of the Indian population and make available genetic variant frequencies for clinical applications. The data and knowhow are expected to produce evidence and help in development of technologies for clinical and biomedical applications, scientists explained.

The project called IndiGen was implemented by Delhi-based Institute of Genomics and Integrative Biology (IGIB) and Hyderabad-based Centre for Cellular and Molecular Biology (CCMB). The whole genome sequencing of individuals drawn from across the country has been completed, enabling benchmarking the scalability of genome sequencing and computational analysis at population scale, Union Minster for Science and Technology Harsh Vardhan said.

The genome data will be important for building the knowhow, baseline data and indigenous capacity in the emerging area of precision medicine, he said. The outcomes of the IndiGen will find applications in a number of areas, including faster and efficient diagnosis of rare genetic diseases, he added.

It will further lead to cost-effective genetic tests, carrier screening applications for expectant couples, enabling efficient diagnosis of heritable cancers and pharmacogenetic tests to prevent adverse drug reactions are some of the other benefits of this initiative.

Scientists have also developed IndiGenome card and mobile application for researchers and clinicians to access clinically actionable information. The minister said it would ensure privacy and data security, which is vital for personal genomics to be implemented at large scale.

CSIR has been engaged in genomic studies in India and its Indian Genome Variation has made major contributions in understanding genetic makeup of Indian population. It has also pioneered the application of genomics in clinical settings in the area of rare genetic diseases by means of DNA and genome based diagnostics and interaction with large number of clinical collaborators. (India Science Wire)

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Genome sequencing data to help in predictive and preventive medicine - Down To Earth Magazine

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Master of Genetic Counseling | Vanderbilt University

Apply Now!

The Master of Genetic Counseling (MGC) program is one built on a foundation of medical education excellence, broad clinical expertise and leadership in genetics research at Vanderbilt University (VU) and Vanderbilt University Medical Center (VUMC). Support for this program is enthusiastic and far- reaching on the campus.

We want your experience to be one of intellectual challenge and academic support. Dr. Nancy Cox served on the Genetic Counseling Workforce Working Group during her tenure as President of the American Society of Human Genetics. Under her leadership, support for the MGC was obtained from the Departments of Pediatrics, Medicine, and Obstetrics and Gynecology, along with the Institute for Clinical and Translational Research, Vanderbilt Ingram Cancer Center, and Personalized Medicine at Vanderbilt.

The Genetic Counseling faculty began work on the program in 2015. This program has been developed by genetic counselors and will be taught by genetic counselors in collaboration with the extensive faculty at VU and VUMC. Our goal is to train leaders in the fields while increasing access to genetic counseling services.

Our students are the future of the field and we strive to build an environment of support and academic rigor for you to thrive. Our first class will be one of immense opportunity. We welcome your input and critical evaluation of the program to improve the learning process for all. We look forward to working with you to build a legacy of excellence in the field of genetic counseling.

Best regards,Martha Dudek, MS, LCGCProgram Director

Questions?mgc@vanderbilt.edu

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I had an exceptional experience in the pediatrics department. I got to participate not only in clinic but also in the UDN research project, which was a unique and valuable experience for me. My supervisors and the whole pediatrics department were outstanding and truly inspiring to me as a growing professional. I loved that I got to work not only with genetic counselors but also with doctors and nurse practitioners. I got a very well rounded experience working in the hospital setting.

I worked directly under Elly Brokamp and also worked closely with other genetic counselors Laura Duncan, Anna Childers, and Vickie Hannig, in clinic. I was truly inspired by these genetic counselors when observing them in clinic and because they all counsel differently, I was able to take away something valuable from each of them. Later in my rotation they started to trust me to lead sessions on my own and I appreciated how they provided constructive but valuable feedback. I never felt like I was being scrutinized the way I have felt rotations in the past. At Vanderbilt I felt like a valued member of the team, even just as a student intern.

Paige Ernste, Summer Intern, 2018

Rotation: Pediatrics with theUndiagnosed Diseases Network

I was the HCC this summer, and I had an incredible experience. I was able to see many patients and to truly improve my genetic counseling skills. By the end of the summer, I felt prepared for future cancer genetic counseling experiences, and I felt more confident in my abilities to be a genetic counselor.

My main supervisors were Kelly Taylor and Heather Herrmann. They were both incredible supervisors and role models for me. The opportunity to not only work with them with patients, but also to speak with them about the future of genetic counseling and hot topics in genetic counseling was inspiring. Everyone I met was incredibly supportive and helped me to learn and become a better genetic counselor.

Joanna Urli, Summer intern, 2018

Rotation: Cancer

I had access to Vanderbilts EMR and was able to do independent and extensive chart review for the patients I was seeing. I saw patients at two different locations, allowing me to see patients with more routine indications such as advanced maternal age and abnormal screening, as well as rarer findings like cleft lip/palate and holoprosenencephaly. Throughout my rotation, I was able to observe different procedures, ultrasounds, and consultations with other health care providers such as social workers and surgeons. I also had the opportunity to get involved with telemedicine patients via video conferencing.

I worked closely with four different genetic counselors. I felt that I got to know my supervisors really well throughout my time at Vanderbilt. They provided me with extremely helpful feedback and taught me a lot, but I also felt that I was able to work alongside them similar to a colleague.

Liana Abramson, Summer Intern, 2018

Rotation: Prenatal

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