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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. …
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.
… help identify fetuses that have certain diseases. Newborn screening is used to test babies one or two days after birth … assess responses to treatments. … Genetic Testing, Newborn Screening, Diagnosing A Genetic Condition, Genetic Disease … …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… and genomic markers are increasingly included in cancer screening, and to guide tailored treatment strategies. … It … Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In Genomics, Genomic Technology … Genomic …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… association study of LDL response to statins using high-throughput electronic health records analysis 4113F Elizabeth … – 11:45 a.m.  Session Title: Translating Genetics into Screening Programs Moderator, Teri Manolio Room 401 Colorado …
The Genomics Landscape
In the October 2024 issue of The Genomics Landscape, NHGRI Director Eric Green welcomes James Thomas as the new director for NIH Intramural Sequencing Center (NISC).
… NIH Intramural Sequencing Center (NISC) . NISC provides high-throughput DNA sequencing services to the NIH intramural … medicine Upcoming Webcasts October 10: Population Genomic Screening in Primary Care Pre-Application Webinar October …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… disability and other serious problems. Women who have high levels of phenylalanine during pregnancy are at high risk for having babies born with mental disability, … in 1 in 10,000 to 1 in 15,000 newborn babies. Newborn screening has been used to detect PKU since the 1960's. As a …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
…  Obtain a family history to assist with early screening detection of genetic conditions or health habits …  Identify risk for asymptomatic individuals with high risk for hereditary cancers.  Advocate for … and email subscriptions. GenomeEd : a repository of high-quality genomic resources for interprofessional members …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… Petcharat Leoyklang Cell-based functional assays for screening of drug candidates for Free Sialic Acid Storage …
For Health Professionals
Essential genomics competencies, practice guidelines, and curricular resources for a variety of health professions.
… in a Caucasian male: Jeff with wife Maria Colon cancer screening in a Hispanic male: Luis Familial adenomatous … polyposis testing in an Ashkenazi Jewish male: Gabe Cancer screening incidental findings in an African American male … Puerto Rican female: Peggy  Reproductive Issues: Newborn screening in an older pregnant Asian female: Dai Cystic …
Healthcare Provider Genomics Education Resource
Genomics plays a role in every area of nursing, whether nurses are at the bedside providing one-on-one care, treating entire populations, teaching the next generation of nurses, or making discoveries in the lab.
… and family risk information.  Follow risk-based screening guidelines. Nurse practitioners may also request … if an individual is at risk of developing a condition.  Screening to identify the need for preventive therapy.  … for patient health.  Improving health outcomes (determine screening timing and intervals).  Maintaining and …