Advancing the Science

Mayo Clinic Medical Science Blog – an eclectic collection of research- and research education-related stories: feature stories, mini news bites, learning opportunities, profiles and more from Mayo Clinic.

Items Tagged ‘genetic testing’

February 10, 2021

Researchers define best practices of genome sequencing for patients with rare diseases

By Colette Gallagher Colette Gallagher

Genome sequencing has shown promise in becoming a first-tier diagnostic test for patients with rare genetic disorders, but standards addressing the definition and deployment of a best-in-class test are lacking. Two recent manuscripts published in npj Genomic Medicine present consensus recommendations on clinical genome sequencing analytical validation and clinical utility to diagnose patients with suspected genetic diseases, including practical advice for […]

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Tags: Brendan Lanpher, Center for Individualized Medicine, clinical research, Department of Laboratory Medicine and Pathology, Eric Klee, genetic testing, genetics, genomics, Hutton Kearney, Ross Rowsey


January 11, 2021

Mayo Clinic Research in the news — 1/11/2021

By Elizabeth Zimmermann Elizabeth Zimmermann

In the news you’ll find Mayo Clinic research and faculty cited on a variety of topics including women’s health, patient consent, migraine, palliative care and of course COVID-19. Radiologists assert new data consent agreements are needed before patient trust is gone Health Imaging, 1/8/2021 Patient health data has become a valuable commodity, helping researchers develop […]

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Tags: Alzheimer's disease, Amy Kotsenas, artificial intelligence, Barrett's esophagus, consent, COVID-19, data science, esophageal cancer, Frank Porreca, gene mutation, genetic testing, Hilary DuBrock


January 4, 2021

Research News Roundup – Q4 2020

By Elizabeth Zimmermann Elizabeth Zimmermann

The year 2020 was a time during which medical and many other researchers around the world focused much of their attention and effort on a single topic – the SARS-CoV-2 virus and related COVID-19 viral infection. However, other research continued, findings were published, and evidence built for improvements in health outcomes and delivery of health […]

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Tags: antibiotic, artificial intelligence, brain, cancer research, cardiology, cardiovascular medicine, Center for Individualized Medicine, Center for the Science of Health Care Delivery, clinical research, clinical trials, collaboration, coronary artery disease


December 28, 2020

Mayo study explores benefits of genetic testing for healthy people

By Colette Gallagher Colette Gallagher

More than 1 in 10 people who had predictive genomic testing ― testing that looks for genetic mutations in otherwise healthy people ― learned that they had a hereditary risk for a health condition and may benefit from preventive care, according to a recent study published in Mayo Clinic Proceedings. This study is the first to […]

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Tags: Center for Individualized Medicine, gene mutation, genetic counseling, genetic testing, genomics, hereditary diseases, individualized medicine, Mayo Clinic Proceedings, personalized medicine


December 23, 2020

Mayo study shows gene sequencing, translational research improves diagnosis rates

By Colette Gallagher Colette Gallagher

Many patients with unsolved medical mysteries often undergo genetic testing, but the tests do not always provide a conclusive diagnosis. The term “diagnostic odyssey” describes the series of clinical consultations and testing that patients with undiagnosed disorders often receive in search of a genetic diagnosis. To help these patients, Mayo Clinic researchers embarked on a […]

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Tags: Center for Individualized Medicine, clinical research, diagnostic odyssey, Eric Klee, genetic testing, genome, Konstantinos Lazaridis, rare disease


December 2, 2020

Conquering cancer by targeting its genetic abnormalities

By Susan Murphy Susan Murphy

Joanne Garnett has harrowing memories of that life-changing day back in 1981. She was a 39-year-old land use planner living in Wyoming when she received a call from her doctor confirming she had uterine cancer.  “I was shocked, and it was strange because I didn’t fit any profile for uterine cancer,” Garnett recalls. “I got a […]

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Tags: BRCA2, breast cancer, cancer genomics, Center for Individualized Medicine, clinical research, DNA, gene mutation, genetic testing, hereditary cancer, Lynch syndrome, Mayo Clinic Cancer Center, Niloy "Jewel" Samadder


November 23, 2020

Mayo Clinic Research in the news — 11/23/2020

By Elizabeth Zimmermann Elizabeth Zimmermann

There were all sorts of different things in the news this week, but perhaps the most heartening was the news from Dr. Anthony Fauci and our own Gregory Poland, M.D., that Santa Claus and the elves are practicing safe behaviors and COVID-19 won’t stop Christmas from arriving.  Read on for excerpts from this and other […]

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Tags: Amir Lerman, Andrew Badley, Anna Subramaniam, antibiotic, antibodies, anxiety, autism, cardiovascular medicine, clinical research, COVID-19, depression, DNA


November 18, 2020

Mayo Clinic study finds 1 in 8 patients with cancer harbor inherited genetic mutations

By Susan Murphy Susan Murphy

Genetic testing can uncover inherited genetic mutations, and could individualize cancer therapies, improve survival, manage cancer in loved ones and push the boundaries of precision medicine. In a new study published in JAMA Oncology, scientists with Mayo Clinic’s Center for Individualized Medicine conducted genetic testing in more than 3,000 patients who were diagnosed with cancer at Mayo Clinic Cancer Center locations […]

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Tags: cancer genomics, genetic testing


November 9, 2020

Mayo Clinic Research in the news — 11/9/2020

By Elizabeth Zimmermann Elizabeth Zimmermann

As SARS-CoV-2 spreads throughout the world, COVID-19 has become the subject of almost every conversation. Not surprisingly, the media are actively following developments in research on symptoms, testing, treatment and vaccines. In addition to some of these stories, you’ll find Mayo Clinic research and researchers highlighted across a wide range of topics. We are also […]

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Tags: ALS, Alzheimer's disease, amyotrophic lateral sclerosis, animal model, ASTRO, bone disease, cancer screening, cardiovascular medicine, clinical research, colorectal cancer, COVID-19, David Ahlquist


November 2, 2020

Mayo Clinic Research in the news — 11/2/2020

By Elizabeth Zimmermann Elizabeth Zimmermann

If you spend any time reading or listening to health care news, you know that some of the same stories are still making their way around the world as last week or even from several weeks back. You may see some repeats from a different news outlet here, but we hope that most of the […]

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Tags: Adrian Vella, Amy Oxentenko, artificial intelligence, breast cancer, cancer, cardiology, Center for Clinical and Translational Science, clinical research, COVID-19, depression, education, gastroenterology


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