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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.
… testing (PM-GT) engages a healthcare professional in a non-traditional role as part of the testing process. The … and are concerned about waiting times. Testing is non-invasive and does not require a blood draw. Consumers are … considering future pregnancy, they may consider seeing a prenatal genetic counselor or other genetics professional to …
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.
… is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most … with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used during pregnancy that examines the fetal …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… Jeannine Mjoseth … 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 … uncovers rare disorders … 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 …
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 … cell-free (cf) DNA in the plasma of pregnant women -- non-invasive prenatal testing (NIPT) - has revolutionized …
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 …
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.
… be at risk for passing it on to their children. … Genetic Testing, Genetic Disorder, Alleles, Inheritance, Family Health History … Carrier screening involves testing to see if a person “carries” a genetic variation …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… genome sequencing in addition, or instead of, existing testing programs? Are there additional considerations to … of disease biomarkers. … Newborn Screening, Genetic Testing, Healthcare, Genetic Material, Gene Mutation, Genes … …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… Medicine, Personalized Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing … The Genomic Medicine Working Group explores and …