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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 genomics-informed healthcare 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 …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a person’s genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
… personalized medicine). … What is pharmacogenomic testing? Studies indicate that more than 98% of people may … to commonly prescribed medications. Pharmacogenomic testing can determine whether a patient has specific genomic … and may, therefore, be less effective for patients with non-European ancestries. Including persons of diverse genetic …
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 …
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 …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… Investigators have implanted fetal tissue in rodents and non-human primates to better understand how to restore or … 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 …
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 …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner … during an ultrasound test. This can be confirmed by prenatal testing - chorionic villous sampling or amniocentesis - to …
File
… Making Disability in Prenatal Genetic Testing - Meghna Mukherjee (Oct. 2022) …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… events in brain development have crossed from the prenatal to the postnatal period. These developmental events …