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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.
… screening for hereditary breast and ovarian cancer, non-invasive prenatal screening, reliability of electronic health records, …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… are working. What are we not trying to do? We are not testing any new medication or procedure to treat or cure MMA. … resonance spectroscopy (MRS) of the brain. This is non-invasive but some patients may require sedation. To enroll in …
News Release
The Genomics and Society: Expanding the ELSI Universe conference focused on issues arising from the ethical, legal and social implications of genomic research.
… Communications and Public Liaison Branch … From prenatal genetic screening to the genetic testing of women with family histories of breast cancer, … on topics ranging from the implications of genetic testing in the criminal justice system to the uses and …
File
… as being at risk of genetic diseases based on results of non-invasive prenatal screening (NIPS). We continue to monitor the …
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… 12:00 - 12:30 p.m. Working Lunch 12:30 - 12:55 p.m. Non-healthcare employer offering genetic testing Jane Gilbert (Teachers' Retirement System of … projects to deploy genetic tests and a genetics-based testing program within employer populations and measure and …
File
… •In Preparation: • ACMG’s Revised Position Statement on Non -Invasive Prenatal Screening ( NIPS) , which is expected to be publis …
For Health Professionals
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) aims to improve genomic literacy of healthcare providers and enhance the effective practice of clinical genomic medicine by facilitating interactions among the key stakeholders in genomics education.
… Education Exercises Clinical Decision-Making in the Prenatal Setting  Direct-to-Consumer Genetic Testing FAQ for Healthcare Professionals Nursing Genomics … for Health Insurers and Payers: Understanding Genetic Testing Fourteen webinars produced by volunteer experts in …
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 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 …
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… program.  Direct-to-Consumer Pharmacogenomic Testing Author: Roseann S. Donnelly (Gammal), PharmD, BCPS … and limitations of direct-to-consumer pharmacogenomic testing, when to pursue confirmatory clinical testing, and how to interpret pharmacogenomic test results …