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News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Human Genome Research Institute (NHGRI) and the National Cancer Institute, both parts of NIH. … can lead to diseases in people, including an inherited eye cancer, retinoblastoma. They would like to develop … University of California, San Diego/Ludwig Institute for Cancer Research; $2.3 million, three years Principal …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… More than 6% of hospital admissions are due to adverse drug reactions, and avoiding such adverse reactions using … alters the protein and slows this transport, causing the drug to build up in the blood and leading to pain and muscle … testing can be used to determine if the tumor cells in a cancer patient have a specific version of a receptor, which …
Event
On February 16, 2023, the National Human Genome Research Institute (NHGRI) held a follow-up working group consultation after the 14th Genomic Medicine meeting, Genomic Medicine XIV: Genomic Learning Healthcare Systems.
… It almost never gets used. We have CDS for >30 gene-drug pairs in our EHR; this may be relevant, but is not … from 3 different departments (Medical Genetics, Cancer Genetics, and PreventiveGenomics) were available to … care.  We see a broad range of patients from hereditary cancer risk assessment, pharmacogenomics, carrier …
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.
… with gene editing 7. Validation of a clinical breast cancer risk assessment tool for all ancestries 8. Broader … with rare diseases 9. Benefits for children with suspected cancer from routine whole-genome sequencing 10. Clinical … care Pharmacogenetic intervention reduces serious adverse drug events Natural language processing helps to prioritize …
The Genomics Landscape
In the May 2024 issue of The Genomics Landscape, NHGRI Director Eric Green talks about the NHGRI Research Training and Career Development Annual Meeting, which provides a venue to foster support and a sense of community for NHGRI-funded trainees, equipping them with tools for success and more clarity about career possibilities.
… cell biology and the development of certain diseases, like cancer. Centromeres have long been challenging to … Genomics Research Drug shows promise for slowing progression of rare, painful … develop AI tool with potential to more precisely match cancer drugs to patients  Notable accomplishments in genomic …
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… evidence-based pharmacogenomic resources from the Food and Drug Administration (FDA), the Clinical Pharmacogenetics … safety of psychiatric medications as well as the impact of drug-drug interactions (phenoconversion) through case-based …
Research at NHGRI
Families Sharing Health Assessment and Risk Evaluation (SHARE) helps you and your family learn how your family health history affects your risk for diseases.
… Colorectal Cancer Breast Cancer Prostate Cancer Type 2 Diabetes Heart Disease How to Use the Families … to reduce risk of heart disease, diabetes, breast cancer, and colorectal cancer . BMC Public Health,  15: 1120, 2015. DOI: …
Clinical Research
A study for patients with unexpected genetic results
… unexpected genetic test results about their risk for cancer, heart disease, and other conditions after having … treated or prevented. Many of these results are related to cancer risk and heart conditions . If you think you have … or Spanish  Received a genetic testing result related to cancer risk or heart disease even though they were not …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… genetic testing (DTC-GT). FDA = Food and Drug Administration; GAO = US Government Accountability … 2007: DTC-GT was offered at $1,000.  2010:  The Food and Drug Administration (FDA) initiated regulatory proceedings … clearance for a pharmacogenetics report for interpretive drug information for two medications — clopidogrel and …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… might explore the best ways to treat people with colon cancer. By studying cancer cells from patients, researchers may be able to … screen their healthy patients before they ever develop cancer. … phases: In Phase I clinical trials, researchers test a new drug or treatment for the first time in a small group of …