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Educational Resources
Risk, in the context of genetics, refers to the probability that an individual will be affected by a particular genetic disorder.
… Risk … Risk, in the context of genetics, refers to the … that an individual will be affected by a particular genetic disorder. … Gene, Gene Environment Interaction, … individual will be affected by a particular heritable or genetic disorder. Both a person’s genome and environmental …
News Release
Research studies are now using polygenic risk scores to determine a person’s inherited risk for certain diseases, but there are inconsistencies in how these scores are calculated. NHGRI has published guidelines in Nature for how these scores should be reported.
… be used as a framework for publishing studies on polygenic risk scores. … Scientists and healthcare providers are … builds off another best practice model called the Genetic Risk Prediction Studies (GRIPS) statement, published … smaller set of genomic variants and gene scores. However, genetic risk prediction models have evolved rapidly since …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals work as members of health care teams … and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … Genetics professionals are …
Health
A polygenic risk score is one way by which people can learn what their risk of developing a disease is, based on the total number of genomics variants related to the disease.
… in diseases across different populations. A “ polygenic risk score ” is one way by which people can learn about their … changes related to the disease. … Researchers often divide genetic diseases into two classes: those that are associated … variants in a single gene. Cystic fibrosis, a progressive genetic disease that causes long-term lung infections and …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities. Polygenic risk scores, often referred to as PRS, are a genetic estimate of a person’s risk for specific diseases. …
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.
… Genetic testing uses laboratory methods to look at your … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be …
Talking Glossary
A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a person’s chances of having or developing a particular medical condition.
… Polygenic Risk Score (PRS) … A polygenic risk score (abbreviated PRS) uses genomic information alone … developing a particular medical condition. … A polygenic risk score (abbreviated PRS) uses genomic information alone …
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.
… the genomes of nearly 5,000 people have pinpointed a genetic variant tied to an increased risk for stroke, and have also uncovered new details about an … their findings may provide new clues to underlying genetic and biochemical influences in the development of …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease development. The findings, published today …
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 is a rare genetic condition caused by a deletion of a group of genes … WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies …