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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 …
File
… •In Preparation: • ACMG’s Revised Position Statement on Non -Invasive Prenatal Screening ( NIPS) , which is expected to be publis …
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 …
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 …
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 …