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… 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, …
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… of Child Health and Human Development and the National Cancer Institute, all part of NIH. "ClinGen is both setting … evidence that mutations dramatically raise the risk for breast and ovarian cancer. Yet for many genes and variants, the evidence is less …
News Release
Supporting early career investigators at the cutting edge of genomics.
… and the Outstanding Investigator Award from the National Cancer Institute. “NHGRI could not be more pleased to … disease, atrial fibrillation, type 2 diabetes mellitus, breast cancer, colorectal cancer and prostate cancer. These tests …
For Patients and Families
Por lo general, se considera que una enfermedad es rara cuando afecta a menos de 200,000 personas en los Estados Unidos en cualquier momento dado.
… Información general sobre el mesotelioma maligno [cancer.gov]), que afecta las células que revisten la cavidad …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… of Child Health and Human Development and the National Cancer Institute. The goal of ClinGen is to bring together … from around the world with expertise in diseases such as cancer, neurodevelopmental disorders and cardiovascular … those for hearing loss, CDH1 (associated with stomach and breast cancer), PAH (associated with phenylketonuria), and …