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Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… participating in genetics research or undergoing genetic testing will lead to being discriminated against based on … individuals or their family members to undergo genetic testing or to provide genetic information. As defined in the … programs. The ADA has been used to challenge genetic testing practices by an employer. In 2001, EEOC filed a suit …
News Release
A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
… More work will be needed to produce an inexpensive, noninvasive test for canine bladder cancer. But if such a …
News Release
A new study by researchers at the National Human Genome Research Institute (NHGRI) is challenging traditional practices for validating DNA sequencing results.
… that the 17 variants that were incorrect in the Sanger testing would have been discarded. Dr. Biesecker said the … these data show that variants identified by NGS genetic testing are accurate and reliable, but like all other medical tests, genetic testing is not perfect. He suggested clinicians use their …
The Genomics Landscape
In the December 2, 2021 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the re-opening of the Genome: Unlocking Life’s Code exhibition at the Smithsonian’s National Museum of Natural History (NMNH) in Washington, D.C.
… for hereditary breast and ovarian cancer, non-invasive prenatal screening, reliability of electronic health records, … online tool to help individuals make informed COVID-19 testing decisions In-person school during COVID-19 must …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… generation to generation. Clinical trials of drugs: Drug testing includes classes of drugs that control symptoms, slow … decisions about testing. Prospective parents consider prenatal testing when one parent has been diagnosed with … Huntington's disease or has been found to carry the gene. Prenatal testing can show whether the child will inherit the …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… as diabetes and high cholesterol, as well as for genetic testing. Participants get the results of all their testingtesting.   EKG, Echocardiogram and CT Scan: These are noninvasive tests that look at how your heart is working, … testing.   EKG, Echocardiogram and CT Scan: These are noninvasive tests that look at how your heart is working, …
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.
… there are many cost-effective, minimal-risk options for prenatal genetic screening and diagnosis for various … risks and potential benefits than established prenatal and newborn screening programs.  Although the … A Historical Discussion on Eugenics and Genetic Testing/Screening  Panelists: Rebecca Mueller (University of …
File
… NAM: Report on Evidence Framework for Genetic Testing Wendy Chung, MD PhD Committee On The Evidence Base … risk of disease, identifying carriers and establishing prenatal and clinical diagnosis or prognosis.” Includes:  Prenatal, newborn and carrier screening  Testing in high …
Staff
Dr. Clesson Turner is the director of the Reverse Phenotyping Core and a staff clinician in the Center for Precision Health Research of the National Human Genome Research Institute.
… patient interview, physical exam, non-invasive diagnostic testing and biospecimen sample collection conducted at no …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to …