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The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… to develop new and more powerful ways to assess people’s genetic risk for developing various diseases. one approach has … risk score webpage , which provides graphical and textual information about polygenic risk scores and more! …
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 …
Policy Issues
Informed consent shows respect for personal autonomy and is an important ethical requirement in research.
… participants' samples, genomic data, and associated health information are being stored and shared to maximize the … over time. raise privacy concerns (in part because of the risk of re-identification). be relevant for family members … to convey and may require additional time. involving genetic counselors in the informed consent process may be …
eMERGE
Important information about RFAs, upcoming dates, frequently asked questions and helpful links.
… important information about rfas, upcoming dates, frequently asked … interactive q&a webinar for the emerge genomic risk assessment and management network funding opportunities. … by the steering committee. if patients have already had genetic testing, can they still be included in the …
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 providing information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions. … genetics professionals are …
Policy Issues
The GINA, is an important U.S. civil rights law that protects individuals from discrimination based on their genetic information.
… the genetic information nondiscrimination act, commonly known as gina, is … protects individuals from discrimination based on their genetic information . it was first introduced into the u.s. … testing was becoming more common, there was an increasing risk that health insurance companies could use a person's …
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 … national eye institute (nei) genetics and rare diseases information center finding reliable health information online …
Event
NHGRI sponsored its 12th Genomic Medicine meeting, Genomic Medicine XII: Genomics and Risk Prediction on May 6-7, 2019.
… medicine meeting,  genomic medicine xii: genomics and risk prediction . the objectives of the meeting were: review … risk scores and how it can be improved examine other information sources that should be integrated with genetic variant information in predicting risk identify …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… of many people suggests that there are tens of millions of genetic variants, or dna spelling differences. for the last … genomic regions containing variants that affect disease risk . although gwas may find hundreds of variants that … various statistical models based on large amounts of information from individuals, and identify variants that …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against … and cures. this page provides an overview of the genetic information nondiscrimination act (gina) and …