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News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… their children after learning about their child’s genomic risk for health conditions. Using immersive virtual reality … and clinicians to improve how we communicate genomic risk to individuals. To examine this dynamic, the researchers … and clinicians to improve how we communicate genomic risk to individuals," says Dr. Persky.  …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be … of these tests provide you with information about your risk of developing a specific disease. Such information may … or who belong to certain ethnic groups that have a higher risk of specific inherited diseases. Prenatal testing is …
Health
Knowledge of your family health history can help you and your healthcare providers identify patterns of inheritance and risk factors.
… healthcare providers identify patterns of inheritance and risk factors. … model using family health history to improve disease risk assessment May 1, 2019 Reddit AMA: The importance of … healthcare providers identify patterns of inheritance and risk factors. …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… highly complex, with multiple factors that play into your risk of disease development. These factors - like genetics, … change their behaviors in response to learning their risk of getting a disease through their family health … history, to the best ways to understand your disease risk when you don't know your family health history.  Chris …
News Release
Scientists studying the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke and cardiovascular disease.
… have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … person having a stroke. "Our goals were to break down the risk factors for stroke," Dr. Williams said. The researchers … amino acid homocysteine are associated with an increased risk of common diseases such as stroke, cardiovascular …
News Release
Three practical strategies for reducing the risk of re-identification, the process by which anonymized personal genomic data are matched with the owner.
… compares three practical strategies for reducing the risk of re-identification - the process by which anonymized … Three practical strategies for reducing the risk of re-identification, the process by which anonymized … Three practical strategies for reducing the risk of re-identification, the process by which anonymized …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… of genes that have large effects on an individual's risk for developing rare diseases. These same approaches … in the MSH2 gene result in a five-fold increased risk for colon cancer. But they hesitate when asked which … and those we are not sure about," he said. "Some are risk variants. They are not absolutely pathologic and their …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental … period. Individuals born with WAGR syndrome are at higher risk for developing other problems during infancy, childhood, …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… display no symptoms for a genetic disorder but may be at risk for passing it on to their children. … display no symptoms for a genetic disorder but may be at risk for passing it on to their children. …
Health
Healthcare professionals determine whether individuals, other family members, or future generations may be at increased risk of developing particular conditions.
… providers to identify patterns of inheritance and identify risk factors. … family members, or future generations may be at increased risk of developing particular conditions. … family members, or future generations may be at increased risk of developing particular conditions. …