Search Results
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 genes, which … results might mean to you and your family. Because genetic testing tells you information about your DNA, which is shared … implications for blood relatives of the person who had testing. … that have a higher risk of specific inherited diseases. Prenatal testing is offered during pregnancy to help identify …
15 Ways Genomics Influences Our World
Advances in genomics are helping you access information about your genome from your home.
… led to an explosion in at-home, or "direct to consumer" genomic testing. You can even seek genomic information without … testing, such as for cancer [see Cancer Genomics ] and prenatal screening [see NIPT ] in which a healthcare … One popular application of such DTC genomic testing is for revealing family ancestry or genealogy …
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 … or the use of health insurance to cover the cost of testing. MedlinePlus Genetics gives an overview of DTC-GT …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… A study exploring how prenatal blood test results for the baby might also detect … who:  received abnormal or non-reportable non-invasive prenatal testing (NIPT) results. had a follow-up test (an ultrasound … What not to expect when expecting: when prenatal screening suggests cancer December 4, 2024 A new …
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 … within a biological sample, most often to look for genomic variants associated with a hereditary or genetic … with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… The NHGRI Genomic Medicine Working Group is a subcommittee of the … explores and advises on issues related to the adoption of genomic medicine. … The NHGRI Genomic Medicine Working Group arose from genomic medicine implementation efforts outlined by the 2011 … Genomic Medicine Meetings Other Genomic Medicine Meetings and …
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 … Because of the way data have been analyzed, typical genomic tests performed during pregnancy have targeted extra … Bianchi, M.D., senior author of the study and chief of the Prenatal Genomics and Therapy Section at NIH's National Human …
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.
… Test for rare genomic condition measures disease severity and success of … if they would benefit from surgical or experimental genomic therapies that target the liver. The study results … Credit: Ernesto del Aguila III, NHGRI.  MMA is a rare genomic disease that impairs the body’s ability to metabolize …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… 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 …
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.
… To prevent an emerging genomic technology from contributing to health disparities, a … of Health has devised new ways to improve a genetic testing method called a polygenic risk score . Since … recalibrated these genetic tests using ancestrally diverse genomic data. As reported in Nature Medicine , the optimized …