Search Results
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… year to repeat your evaluation. … 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 …
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 … broad themes: prenatal genomics with the goal of advancing noninvasive prenatal DNA screening and diagnosis and … of fetal cell microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA …
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 … considering future pregnancy, they may consider seeing a prenatal genetic counselor or other genetics professional to … status and inheritance of the variant. Preconception or prenatal testing can be considered if the patient is pregnant …
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 … with a hereditary or genetic disorder. For example, prenatal cell-free DNA testing is a non-invasive method used …
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.
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 … of Health has devised new ways to improve a genetic testing method called a polygenic risk score. … To prevent an … of Health has devised new ways to improve a genetic testing method called a polygenic risk score. … News …
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 …