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Event
On April 16-17, 2018, the National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver National Institute of CHild Health and Human Development (NICHD) hosted a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health.
… a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. … Genomic Medicine for Reproductive, Prenatal and Neonatal Health … a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. … a joint workshop - Genomic Medicine for Reproductive, Prenatal and Neonatal Health. …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… were diagnosed with cancer after receiving an abnormal or non-reportable NIPT result, you can still join the study. You … A study exploring how prenatal blood test results for the baby might also detect … to identify the reason for each participant’s abnormal or non-reportable NIPT results and to determine the best …
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.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals What is direct-to-consumer genetic testing? Direct-to-consumer genetic tests (DTC-GT) are … testing (PM-GT) engages a healthcare professional in a non-traditional role as part of the testing process. The …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
… Cell-Free DNA Testing … Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most … is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Extending noninvasive prenatal screening to all 24 human chromosomes can detect … Bianchi, M.D., senior author of the study and chief of the Prenatal Genomics and Therapy Section at NIH's National Human … Extending noninvasive prenatal screening to all 24 human chromosomes can detect …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… to use a breath test to track oxidation of propionate in a non-invasive way,” said Irini Manoli, M.D., Ph.D., co-author and …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… an explosion in at-home, or "direct to consumer" genomic testing. You can even seek genomic information without … to learn more about yourself or your family through DNA testing - maybe you've seen ads on TV or heard them on the … testing, such as for cancer [see Cancer Genomics ] and prenatal screening [see NIPT ] in which a healthcare …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since … represented about three times as many individuals of non-European ancestry compared to other major datasets … recalibrate the polygenic risk scores for individuals of non-European ancestry. With the optimized scores, the …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… of Child Health and Human Development and head of the Prenatal Genomics and Therapy Section for the Medical … translational research focuses on two broad themes: prenatal genomics with the goal of advancing noninvasive … of fetal cell microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA …
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.
… Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family … Carrier screening involves testing to see if a person “carries” a genetic variation …