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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 … the ethical, legal, and social implications of receiving genomic information about newborns is an integral component … program is to determine how clinicians and families use genomic sequence information in decision-making. Several of …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… know that we are increasingly able to detect cancers by testing just a blood sample? Or that we are moving toward … therapy. Such trials are aided by patients who share their genomic data with researchers or even openly with other … cancer than other people. As we learn more about the genomic changes predisposing a person to cancer, we have been …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their … are generating the evidence base, and designing and testing the implementation of genome sequencing as part of an …
Fact Sheet
Genomic research has been central to understanding and combating the SARS-CoV-2 (COVID-19) pandemic.
… Key Points: Genomic research has been central to understanding and … in the sample to be detected. … How does COVID-19 PCR testing work? COVID-19 testing uses a modified version of PCR … reduced the cost and increased the speed of genetic and genomic sequencing, enabling the rapid pivot towards COVID-19 …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … infants. … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… of the central challenges in biology is understanding how genomic variation affects genome function to influence … multiple funding opportunities to establish the Impact of Genomic Variation on Function (IGVF) Consortium , the … but are not limited to, selecting variants for systematic testing; applying genomic perturbation methods and assaying …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… cells lining the airways of lungs. Researchers are now testing aerosol delivery using nebulizers. But finding the … to conceive or whether to have a fetus tested for CF. Prenatal testing for CF can be done around the 11th week of … Since CF cannot be treated before birth, the purpose of prenatal testing is to prepare parents to care for a baby …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… Genomicists and clinicians are beginning to offer patients genomic testing for a list of treatable diseases apart from the … also asked him if he would want to know if they found any genomic variants that could affect him or his family. Bryant …