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News Release
A study published NIH researchers revealed that about half of individuals who said they don’t want to receive secondary genomic findings changed their mind after their healthcare provider gave them more detailed information.
… variants that are associated with a heightened risk for breast cancer. Based on the American College of Medical Genetics and … BRCA2 , both of which are linked to an increased risk of breast and ovarian cancer. All 59 genes are associated with …
Careers and Training
NHGRI provides funding to support the development and implementation of modules aimed at providing healthcare professionals with genomic medicine training.
… of ACT sheets for select high risk PRS diseases (Breast Cancer, Heart Disease, Diabetes) that can be adapted to … variants we currently use clinically for diseases such as breast cancer, colon cancer, and coronary artery disease. …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… … Population screening for hereditary breast and ovarian cancer is cost effective Australian implementation of … variant classification Nine genes are most informative for breast cancer susceptibility Belgian model for universal …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
… with a specific health condition such diabetes and cancer. The study was conducted by the research group headed … genomic risks for a variety of health conditions, such as breast cancer, obesity and heart diseases. Although such risk …
File
… the best models, lessons from diverse complex diseases: Breast Cancer …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… tests to predict, prevent and treat disease. Tests for breast cancer and for hereditary forms of colorectal cancer can assess disease risk and guide screening and …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like … called Herceptin will be an effective treatment in breast cancer. This test looks "estrogen receptors" in tumors. …
For Patients and Families
​Pharmacogenomics combines the science of how drugs work, called pharmacology, with the science of the human genome, called genomics.​
… to better ways of using drugs to manage heart disease, cancer, asthma, depression and many other common diseases. … to have a bad reaction to the drug. Another example is the breast cancer drug trastuzumab (Herceptin). This therapy works only …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… diagnose inherited disorders and to target drug therapy in cancer. However, more robust aggregation of evidence for … a Deadly Brain Tumor Older Biologic Age Linked to Elevated Breast Cancer Risk Cancer Drug Reduces Pain, Improves Symptoms in …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… risk scores for 10 common health conditions, including breast cancer, prostate cancer, chronic kidney disease, coronary heart disease, …