Search Results
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 … thousands of variants per disease. Researchers put this information into a computer and use statistics to estimate …
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 … Polygenic risk scores, often referred to as PRS, are a genetic estimate of a person’s risk for specific diseases. … The new consortium, called PRIMED , will pool genomic information from existing and new datasets to develop and …
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 … individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be … to you and your family. Because genetic testing tells you information about your DNA, which is shared with other family …
Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice … a genetic disease. … Genetic Discrimination, GINA, Genetic Information Nondiscrimination Act, DNA, Healthcare … Genetic … on an aspect of their genetic code or genome, such as the risk for genetic disorder. Genetic discrimination can involve …
News Release
Fearful patients who received information about the role of genomics in obesity were less likely to take steps to improve health habits
… … New research suggests that fearful patients who received information about the role of genomics in being overweight viewed the information as threatening and were less likely to take steps … impact, she wanted to determine how to communicate information about genomics and weight so that patients are …
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.
… Study shows genomic information can unknowingly influence medical decisions … common health conditions, information such as polygenic risk scores are not currently as accurate at predicting risk. … providers generally don’t have a lot of experience with genetic and genomic information. When there is uncertainty in …
News Release
NIH will support research that incorporates DNA sequence information into electronic medical records.
… will support research that incorporates DNA sequence information into electronic medical records. The goal of … rare and common variants suspected to relate to disease risk and treatment effects," said Rongling Li, M.D., Ph.D., … immune system. They will use DNA sequencing to examine the genetic make-up of 2,500 individuals and combine this …
The Informed Consent Resource
Explore genomics-relevant considerations for informed consent and guidance on how to approach them.
… research uses for which samples, genomic data, and health information might be shared. Investigators should ensure that … they are being recruited because they have a disease risk, which could come as a surprise to them. Writing consent … seems too narrow, or if it seems highly unlikely that genetic or genomic analyses would have been anticipated, the …
The Informed Consent Resource
Explore the basic elements of informed consent that are required by the Common Rule and that are relevant to genomics.
… asking for your permission to collect samples and health information from you for a research study on [specific … we will study some of this blood (or other tissue) and genetic material (for example, DNA) that already may have … they are taking to reduce risks and the protections from risk that are in place. Discussion of risks should be …
Administrative
The Information Technology Branch provides leadership and service for information technology resources at NHGRI.
… The Information Technology Branch (ITB) provides leadership and service for all information technology (IT) resources for the National Human … and administrative support of computer networks. Information Resource Management ITB researches federal and IT …