news, journals and articles from all over the world.
When Elisa Schoenfeld, a child development specialist, learned she had tested positive for a BRCA gene mutation, she knew it raised her risk for breast and ovarian cancer. She and her daughter, Amira, who received similar genetic test results, visited the BRCA Ovarian Previvor Clinic at Cedars-Sinai.
Genetic testing has become a more common way to diagnose and manage many neurologic conditions including dementia, Parkinson’s disease and epilepsy, but a new study has found not everyone may have the same level of access to these tests. Black people were half as likely as white people to be evaluated for genetic testing, according to a study published in the March 6, 2024, online issue of Neurology®, the medical journal of the American Academy of Neurology.
In the GENERATE study, 90% of those who viewed an online genetic education program chose to be tested for inherited predisposition to pancreatic cancer.
Two new measurements have been added to the Health Equity Report Card (HERC)—a tool for improving the quality and equity of cancer care. This expansion is part of ongoing efforts to address the impact of structural and interpersonal racism as a cause of disparities in cancer outcomes in the United States.
Amanda Butler and Isabella Bugatti, both just entering their 30s, were blindsided by a diagnosis that is on the rise among women their age: breast cancer.
During Breast Cancer Awareness Month, Cedars-Sinai Cancer experts are available to discuss an uptick in breast cancer among younger patients and the innovative ways the academic medical center is treating breast cancer in diverse Southern California communities and beyond.
Researchers from Mayo Clinic Comprehensive Cancer Center and Mayo Clinic Center for Individualized Medicine have discovered new genetic markers to identify Lynch syndrome-associated colorectal cancer with high accuracy.
Obesity risk genes make people feel hungrier and lose control over their eating, but practicing dietary restraint could counteract this.
Cedars-Sinai patient care teams are preparing to offer lecanemab, a new Alzheimer’s disease treatment expected to soon receive approval from the U.S. Food and Drug Administration (FDA), to patients in the coming months.
A pair of West Virginia University researchers, Amy Welsh and Chris Rota with the WVU Davis College of Agriculture, Natural Resources and Design, are studying the habits and habitats of two West Virginia lagomorphs: the Appalachian cottontail and the snowshoe hare.
A rapid genetic testing model for patients with advanced prostate cancer can more quickly identify those with “actionable” gene variants eligible for newer targeted therapies, reports a clinical trial in the May issue of The Journal of Urology®, an Official Journal of the American Urological Association (AUA). The journal is published in the Lippincott portfolio by Wolters Kluwer.
As health care professionals, researchers and consumers increasingly use genetic testing, they are uncovering incidental genetic abnormalities, or variants, that are associated with cardiovascular diseases.
Researchers of the Department of Ethology, Eötvös Loránd University (ELTE) have been investigating dogs’ reactions to wolf howls.
Women with cancer in one breast may be at higher risk of developing cancer in the opposite breast if they are carriers of specific genetic changes that predispose them to develop breast cancer, according to a study led by the Mayo Clinic Comprehensive Cancer Center. The findings, published in the Journal of Clinical Oncology, will help personalize approaches to breast cancer screening and risk factors, study authors say.
A genetic test known as chromosomal microarray analysis (CMA) could help identify the cause of sudden infant death syndrome (SIDS) or its counterpart in older children, known as sudden unexplained death in childhood (SUDC), finds a study led by Boston Children’s Hospital.
A Rice University lab is leading the effort to reveal potential threats to the efficacy and safety of therapies based on CRISPR-Cas9, the Nobel Prize-winning gene editing technique, even when it appears to be working as planned.
Although breast cancer is more common in women, during October, Breast Cancer Awareness Month, experts from Cedars-Sinai Cancer are reminding men that they are at risk as well. One in every 100 breast cancers in the U.S. is diagnosed in a man, according to the Centers for Disease Control and Prevention.
Moffitt Cancer Center has conducted the first prospective study to investigate genomic biomarkers associated with aggressive disease in African American men with prostate cancer. The study results were published in the Journal of the National Cancer Institute.
A new UCLA-led study has identified multiple new risk genes for Alzheimer’s disease and a rare, related brain disorder by using a combination of new testing methods allowing for mass screening of genetic variants in a single experiment.
Holly Hammond faced one of the toughest-imaginable breast cancer scenarios. Her cancer was already advanced and had spread to her liver and lymph nodes when she discovered a tumor on her right breast. The tumor was negative for all of the markers that respond to targeted therapies for cancer treatment. She was also positive for the genes that mark her as especially prone to breast cancer.
JMIR Publications recently published “Understanding the Information Needs of Patients With Ovarian Cancer Regarding Genetic Testing to Inform Intervention Design: Interview Study” in JMIR Cancer, which reported that experts in gynecological cancer care recommend that all patients with invasive or high-grade ovarian cancer (OC) undergo genetic testing. However, even patients who intend to take or have taken genetic tests have many unaddressed information needs regarding genetic testing. Existing genetic counseling falls short of adequately addressing this challenge.
A genetic risk for heart disease is far less predictive of problems than actual lifestyle risk factors such as high blood pressure, high cholesterol and diabetes — even among younger adults.
Telling a child about their mother’s risk of hereditary breast and ovarian cancer does not adversely influence the offspring’s lifestyle or quality of life in the long term, according to a new study led by researchers at Georgetown Lombardi Comprehensive Cancer Center.
Women make up two-thirds of Americans who have Alzheimer’s disease, yet scientists have yet to determine what makes them so susceptible to the condition. Bernard Schreurs, a researcher with the West Virginia University School of Medicine and Rockefeller Neuroscience Institute, directs the West Virginia Alzheimer’s…
Experts Encourage Rapid Genomic Screenings and Development of New Therapeutics for Drug-Resistant Pathogens to Address Emerging Global Health Concern
Genetic testing results in lower length of stay in the neonatal intensive care unit (NICU) for infants with epilepsy, according to a study published in the journal Pediatric Neurology. The reduction in hospital stay time in babies with epilepsy who spent time in the NICU was not explained by changes in the severity of illness, birth weight or population changes in the NICU over time. These findings confirm the importance of early genetic testing for epilepsy, which allows more precise treatment and better seizure control during a critical time in brain development.
A new service for people with rare eye conditions has opened at the University of Illinois Chicago College of Medicine’s Illinois Eye and Ear Infirmary. The Inherited Retinal Disease Service offers state-of-the-art evaluation and consultation for patients with inherited retinal diseases, such as retinitis pigmentosa, Best disease, cone dystrophy, macular dystrophy, Stargardt disease and others.
Researchers from Flinders University and the Robinson Research Institute at the University of Adelaide have identified distinctive biological markers that could improve the routine blood tests pregnant women already undergo and detect risks for pregnancy complications earlier than currently possible.
The University of Texas MD Anderson Cancer Center’s Research Highlights provides a glimpse into recently published studies in basic, translational and clinical cancer research from MD Anderson experts. Current advances include clinical studies to investigate novel treatment strategies, a new understanding of cancer precursor lesions, identifying a calcium signaling receptor, characterizing nodal immune flair after immunotherapy, a community screening tool for BRCA testing and a new method for diagnosing Clostridioides difficile infections.
Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with conditions that affect how the brain functions.
Despite significant advances in treatment, sports-related concussion continues to plague athletes. Part of the reason for this is that the biological basis of concussion is poorly understood. Genetics play a key role in the biology underlying concussion. In this study,…
A new research paper funded in part by the National Heart, Lung and Blood Institute (NHLBI) shows a clear advantage of genetic testing in helping health care providers choose the appropriate anti-platelet drug. Testing helps determine if a patient carries genetic variants in CYP2C19 that cause loss of its function. These variants interfere with the body’s ability to metabolize and activate clopidogrel, an anti-platelet medication.
GI OnDEMAND®, gastroenterology’s leading multidisciplinary virtual integrated care platform today announced a partnership with Ambry Genetics®, a leading clinical genetic testing company, to integrate online genetic counseling and testing services into gastroenterology practices nationwide. This partnership addresses a critical clinical need for identifying hereditary GI cancer syndromes to help guide potentially life-altering health care decisions.
GI OnDEMAND, a joint venture between the American College of Gastroenterology and Gastro Girl, Inc., will now offer the CARE (Comprehensive, Assessment, Risk, and Education) Program™ from Ambry Genetics.
Researchers at Mayo Clinic have combined results from a functional test measuring the effect of inherited variants in the BRCA2 breast and ovarian cancer gene with clinical information from women who received genetic testing to determine the clinical importance of many BRCA2 variants of uncertain significance (VUS). The findings were published today in a study in the American Journal of Human Genetics.
Several genetic mutations previously linked to breast cancer and included on commercial genetic tests, including direct-to-consumer tests, were found not to increase a woman’s risk of disease, according to a population study of more than 64,000 women published online today in the New England Journal of Medicine from several institutions, including Penn Medicine.
In a new study by Yale Cancer Center, researchers found substantial regional variation in use of genomic testing for prostate cancer, raising questions about access and other factors that might promote rapid adoption of new cancer technologies.
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 in Arizona, Florida and Minnesota. In all, the scientists found that 1 in 8 patients with cancer had an inherited cancer-related gene mutation. This mutation would not have been detected in half of these patients using a standard guideline-based approach.
UC San Diego School of Medicine researchers reported that genetic testing is cost-effective and beneficial for newly diagnosed patients with metastatic gastrointestinal stromal tumors (GIST), a rare type of cancer.
The first-ever virtual American College of Surgeons (ACS) Clinical Congress 2020 will convene October 3-7, offering surgeons and guest clinicians both live and on-demand sessions.
• A recent analysis examines data from over the past 25 years concerning couples’ use of genetic testing for kidney diseases in embryos from in vitro fertilization.
• The analysis provides the first report on the types of genetic kidney diseases tested in this way, how often these tests result in live births of unaffected children, and what reasons couples cite for not undergoing testing.
A new Cleveland Clinic study has identified genetic factors that may influence susceptibility to COVID-19. Published today in BMC Medicine, the study findings could guide personalized treatment for COVID-19.
Genetic testing for prostate cancer is still not common. New guidelines show why it’s important, and which genes to test for.
A study by researchers at Mayo Clinic published this week in the Journal of Clinical Oncology suggests that all women with a breast cancer diagnosis under the age of 66 be offered germline genetic testing to determine if they have a gene mutation known to increase the risk of developing other cancers and cancers among blood relatives. Current guidelines from the National Comprehensive Cancer Network (NCCN) recommend germline testing for all women diagnosed with breast cancer under the age of 46 regardless of their family history and breast cancer subtype.
In a special report published today in the journal Pediatrics, Roberts Individualized Medical Genetics Center researchers, physicians, and genetic and financial counselors describe the success of the model, their plans to build on that success for the future, and the important lessons learned from their first four years in operation.
Researchers examined racial and ethnic differences in genetic testing frequency and results among diverse breast cancer patients diagnosed at age 50 or younger from January 2007 to December 2017. They found that among 1,503 diverse young breast cancer patients, less than half (46.2 percent) completed hereditary breast and ovarian cancer genetic testing. However, the percentage of women who completed genetic testing increased over time from 15.3 percent in 2007 to a peak of 72.8 percent in 2015.
New Study Highlights Milestones in the History of Genetic Discoveries; Equitable and Fair Access Required to Address Disparities
At-home genetic tests are popular holiday gifts that can be fun and interesting, but they also have limitations and risks — such as providing unexpected or upsetting results.
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