Items Tagged ‘whole exome sequencing’
October 18, 2021
By Susan Murphy 
When Michelle Ewy, 38, received an opportunity at Mayo Clinic to get her DNA tested for genetic mutations related to breast and ovarian cancers, and other cancers and diseases, she jumped at the chance. “I wasn’t thinking much of what the outcome would be because there has not been a prevalence of breast or ovarian […]
Tags: BRCA2, breast cancer, Dr. Konstantinos Lazaridis, Genetic Counseling, Genetic Testing, ovarian cancer, Teresa Kruisselbrink, whole exome sequencing
May 23, 2019
After nearly three decades of testing, genome-sequencing brings answers for Arizona family
By Sharon Rosen
Article by Lynn Closway At age 27, Kyle Christy has defied the odds. He was born with seemingly insurmountable medical challenges that caused his parents, Debra and Todd, to fear what their beloved first-born son’s life would be like. When their second son was born, just 19 months later, Debra and Todd immediately noticed the […]
Tags: #Dr. Radhika Dhamija, Genetic Testing, genomics, mayo clinic, Mayo Clinic Center for Individualized Medicine, whole exome sequencing
April 10, 2018
Celebrating 15 years of advances in genomics: a time to reflect and look forward
By Sharon Rosen
DNA sequencing and genetic testing have changed medical practice by speeding diagnosis of rare diseases for which patients have visited many different medical providers in search of answers, offering new options in prenatal testing and ushering in a new era of individualized medicine. Genomics moved to the forefront of several areas of medicine after completion […]
Tags: #15 for 15 Celebration, #cell-free DNA testing, #CIMCon18, #DNA sequencing tests, #Dr. Megan Allyse, #Dr. Myra Wick, #expanded carrier screening, #prenatal testing, #rare and undiagnosed diseases, #rare diseases, #rare genetic diseases, #reproductive health
November 7, 2017
Twenty-first century precision medicine cancer care
By Sharon Rosen
As genomic sequencing has become faster and less expensive, physicians have used this new technology to guide and manage care for patients with cancer. Genomic testing, also known as genomic profiling, was initially used for patients with advanced cancer when standard therapy failed. The goal of the testing was to identify unique genetic characteristics of […]
Tags: #cancer treatment, #Dr. Mitesh Borad, #genetic panel tests, #Genomic profiling, #targeted therapies, #tissue biopsy, #tumor sequencing, cancer, center for individualized medicine, Dr. Patricia LoRusso, mayo clinic, Mayo Clinic Proceedings
November 2, 2017
Researchers at Mayo Clinic Center for Individualized Medicine have uncovered genetic clues to why tumors resist a specific therapy used for treating advanced prostate cancer. This discovery can guide health care providers to individualized treatments for castration-resistant prostate cancer, a deadly disease that does not respond to standard hormone therapy. Several U.S. Food and Drug […]
Tags: Advanced prostate cancer, castration-resistant prostate cancer, center for individualized medicine, Dr. Keith Stewart, Dr. Liewei Wang, Dr. Manish Kohli, individualized medicine, medical research, personalized medicine, Precision Medicine, Prostate Cancer, RNA sequencing
October 17, 2017
Karter Malcomson’s cherubic face, inquisitive eyes and wide smile are magnetic. Behind them is a two- year-old boy with a rare disease that’s generated more medical mysteries in his short life than many face in an entire lifetime. His circuitous journey to a diagnosis took his case before the Functional Genomics Team– the A team […]
Tags: #Dr. Pavel Pichurin, #rare diseases, #Undiagnosed rare diseases, Genetic Testing, whole exome sequencing
September 25, 2017
Study evaluates effectiveness of deep genomic profiling in clinical setting
Genomic profiling is used today for patients with advanced cancers to help develop new ways to diagnose and treat their disease and offer an individualized treatment plan. While gene panel testing is relatively commonplace, there are many barriers to using new and more sophisticated DNA technologies. According to Mitesh Borad, M.D., an oncologist at the […]
Tags: #cancer treatment, #CIMCon17, #Dr. Mitesh Borad, #genetic profiling, #Individualizing Medicine 2017, #long-insert whole genome, #Nature scientific Reports, #targeted therapies, #whole transcriptome sequencing, Advanced Cancer, center for individualized medicine, mayo clinic
June 23, 2017
Perinatal genetic screening: new technologies help parents learn more about the health of their baby
By Sharon Rosen
New genomic technology is reshaping perinatal screening, which is testing before and during pregnancy to assess the health of a baby. Now pregnant women can have their baby initially screened for genetic disorders, such as Down syndrome, through the use of a newer blood test that evaluates DNA from the placenta present in the mother’s […]
Tags: #cell-free DNA testing, #DNA analysis, #Down syndrome, #Dr. Myra Wick, #expanded carrier screening, #genetic disorders, #perinatal testing, #prenatal screening, #prenatal testing, center for individualized medicine, Genetic Testing, mayo clinic
June 16, 2017
Genetic testing helps guide diagnosis and treatment for digestive and liver diseases
By Sharon Rosen
Many disorders of the digestive tract and liver can cause chronic, debilitating symptoms that begin in infancy or early childhood and require treatment to prevent the disease from progressing. Mayo Clinic is the first medical center to integrate genomic testing into personalized care plans for patients with some digestive and liver diseases. Researchers have discovered […]
Tags: #Dr. Lisa Boardman, #Dr. Michael Stephens, #Gastroenterology and Hepatology Clinic, #gastrointestinal cancer, #gastrointestinal disorders, #gene panel testing, #Individualizing Medicine Clinic, #liver cancer, #medical resesarch, center for individualized medicine, Dr. Konstantinos Lazaridis, Genetic Testing
May 25, 2017
The patient perspective: seeking answers with genetic testing
By Sharon Rosen
Many patients and their families search for years for answers to undiagnosed medical conditions, hoping for a diagnosis and treatment to help relieve often debilitating symptoms. Some of these patients may be candidates for whole exome sequencing, a genetic test that looks at the estimated 20,000 genes that may give us an answer to the […]
Tags: #rare diseases, #rare genetic diseases, center for individualized medicine, DNA Sequencing, Genetic Counseling, Genetic Testing, mayo clinic, Teresa Kruisselbrink, whole exome sequencing