Thirty years after the sequencing of the BRCA1 cancer-associated gene, access to genetic tests and awareness about its risks are still too limited. Evolutionary geneticist Mary-Claire King did not anticipate the impact of her discovery.Credit: Rina Castelnuovo/New York Times/Redux/eyevine When Mary-Claire King embarked on a painstaking 17-year-long hunt for a gene linked to breast cancer, she had...
Tag: <span>genetic testing</span>
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New genetic testing pathways could ensure patients get personalized BRCA-linked cancer treatments
October 2, 2024 by Institute of Cancer Research The BRCA-DIRECT Pathway. Credit: British Journal of Cancer (2024). DOI: 10.1038/s41416-024-02832-2Scientists have developed a new clinical pathway for testing for the cancer-causing faults in the BRCA gene that could ensure patients get the right treatment and boost the number of people who get tested. The researchers, from...
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Genetic testing could greatly benefit patients with depression, save health system millions
by University of British Columbia Credit: CC0 Public Domain A special kind of genetic test that helps determine the best antidepressant for patients with moderate-to-severe depression could generate substantive health system savings and greatly improve patient outcomes, according to new research from the University of British Columbia. The study, published today in the Canadian Medical Association...
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Offering genetic testing at the point of care may increase uptake
by Boston University Credit: Unsplash/CC0 Public Domain Genetic testing for hereditary cancers, such as breast, colon, pancreatic, and ovarian cancer, helps at-risk individuals understand their familial risk for these diseases and make informed decisions about next steps in care. But fewer than 20 percent of at-risk patients utilize this testing, and even fewer engage in genetic counseling after...
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Genetic testing for epilepsy improves patient outcomes
by Olivia Dimmer, Northwestern University Reported Clinical Actions After a Definitive Genetic Diagnosis A, Respondents reported whether the genetic finding influenced a change in clinical management of the patient. B, Those who indicated “yes” selected all of the changes that were implemented or recommended (a patient could have >1 recommendation reported and is counted in...
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Genetic testing helps detect children likely to have heart failure and require a transplant
by Centenary Institute Credit: Unsplash/CC0 Public Domain Genetic testing can diagnose cardiomyopathy—a disease of the heart muscle—in children and help detect who will have heart failure and require a transplant, a new study has found. Researchers at the Centenary Institute and the Murdoch Children’s Research Institute (MCRI) have shown that genetic testing for cardiomyopathy in children and their first...
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Recommendations on genetic testing for inherited cardiac diseases published today
by European Society of Cardiology Credit: CC0 Public Domain When should patients and family members undergo genetic assessment for a heart condition? Find out in an international consensus document published in EP Europace, a journal of the European Society of Cardiology (ESC) and presented at EHRA 2022, a scientific congress of the ESC. “This is...
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Predictive model identifies patients for genetic testing
VANDERBILT UNIVERSITY MEDICAL CENTER IMAGE: (L-R) DOUGLAS RUDERFER, PH.D., AND THEODORE (TED) MORLEY POSE FOR A PHOTO AT VANDERBILT UNIVERSITY MEDICAL CENTER. CREDIT: PHOTOS BY DONN JONES/VANDERBILT UNIVERSITY MEDICAL CENTER. Patients who, perhaps unbeknownst to their health care providers, are in need of genetic testing for rare undiagnosed diseases can be identified en masse based...
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Genetic testing proves beneficial in prescribing effective blood thinners
by Mayo Clinic Credit: CC0 Public Domain Pharmacogenomics is a valuable tool for health care providers to help prescribe the right drug for the right patient to enhance efficacy and avoid side effects. 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...
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Large-scale study finds genetic testing technology falsely detects very rare variants
by University of Exeter Credit: CC0 Public Domain A technology that is widely used by commercial genetic testing companies is “extremely unreliable” in detecting very rare variants, meaning results suggesting individuals carry rare disease-causing genetic variants are usually wrong, according to new research published in the BMJ. After hearing of cases where women had surgery scheduled after...
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