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… ​Genetic Screening … Genetic screening is the process of testing a population for a …
FAQ
On November 8-9, 2023, NHGRI sponsored its 15th Genomic Medicine meeting, Genomic Medicine XV: Genomics and Population Screening, in Bethesda MD.  The following questions were answered during the meeting.
… the panel address the social structural ramifications of screening based on race and/or genetic ancestry? Recognizing … screening come before our ability to discern clinically high-risk people? Or address the disparities on the back-end … the history of the harms that have been incurred by high-risk populations who bear the burden of disease in this …
Educational Resources
Non-directiveness refers to the nature of the genetic counseling process.
… to the nature of the genetic counseling process. … Carrier Screening, Birth Defect, Genetic Screening, Genetic Testing, Family Health History, Newborn Screening, Genetic Counseling …   … Non-directiveness refers …
Staff
Abdel Elkahloun is an associate investigator in NHGRI's Office of Scientific Core Facilities.
… At the NHGRI, Dr. Elkahloun started applying large scale screening methods to identify genes associated with … Patel N, Elkahloun A, Lee MJ, Trepel J, Ferrer M, Pacak K. High-throughput screening for the identification of new …
Educational Resources
Fraternal twins are also dizygotic twins.
… twins. … Genes, Twins, Family Health History, Newborn Screening … Fraternal twins (also called dizygotic twins) …
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 … …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal Screening … Down syndrome (also called Trisomy 21) is a …
Educational Resources
Congenital conditions are those present from birth.
… from birth. … Birth Defects, Genetic Mutation, Newborn Screening, Genetics, Pregnancy … Congenital refers to a …
Staff
Joy Boyer was a program director in NHGRI's Division of Genomics and Society.
… initiatives focused on newborn and prenatal genetic screening. Currently, Joy focuses on ELSI Research Program … policy, ethical legal and social implications, newborn screening … Joy Boyer was a program director in NHGRI's …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health History … Genomic variation refers …