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Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on newborn babies to detect a …
Fact Sheets
Newborn screening tests use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers.
… Newborn screening tests use a dried blood sample collected during the … or characteristic that is indicative of a disease). … Newborn screening in the United States is a major public health …
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.
… Carrier Screening … Carrier screening is a genetic test performed on people who display … Alleles, Inheritance, Family Health History … Carrier screening involves testing to see if a person “carries” a …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… of experts who attended the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. … in three component projects specifically applicable to newborn screening: Acquisition and analysis of genomic …
Media Advisory
On Monday, June 24, 2019, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program investigators will present genomic research findings on implications for health and care of newborns during a public webinar session from 1:30 - 5:15 p.m Eastern.
… session of the National Human Genome Research Institute’s Newborn Sequencing in Genomic Medicine and Public Health … How can genomic sequencing replicate or augment known newborn screening results? What knowledge could genomic sequencing …
Event
On October 10, 2024, NHGRI hosted a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… Welcome Overview of the Population Genomic Screening Discussion … See the Frequently Asked Questions for … a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021 , … and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a …
Event
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.
… meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD. This meeting discussed the current state of population genomic screening in the U.S., as well as barriers and opportunities for expanded population screening, impact on clinical practice and outcomes, various …
News Release
NHGRI researchers find that specific abnormal chromosomal patterns in prenatal blood tests warrant whole-body MRI cancer screening.
… in prenatal blood tests warrant whole-body MRI cancer screening. … In the fall of 2022, Erica felt like she was on … blood draw, they have quickly become routine in pregnancy screening. Each year, around two million pregnant people in … 107 participants with abnormal or inconclusive prenatal screening results that might indicate the presence of cancer. …
The Genomics Landscape
In the July 2019 edition of The Genomics Landscape, NHGRI Director Eric Green reflects on the milestones of the Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Program as it reaches completion.
… of Child Health and Human Development (NICHD), the Newborn Sequencing in Genomic Medicine and Public Health … the potential benefits of using such information to screen newborn infants for genetic conditions, to further the … genome sequencing has not been used for this screening. The recent advances in DNA sequencing technologies …
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various conditions (variations) … use of genome sequencing in mainstream medicine . But newborn genomic sequencing has significantly more … risks and potential benefits than established prenatal and newborn screening programs. Although the individual and …