Genetics in Medicine

Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics.

Publisher
NPG

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ACMG releases statement on noninvasive prenatal screening

The American College of Medical Genetics and Genomics (ACMG) has just released an important new Policy Statement on "Noninvasive Prenatal Screening for Fetal Aneuploidy." The Statement can be found in the Publications section ...

Other created Apr 08, 2013 | popularity not rated yet | comments 0

ACMG releases report on incidental findings in clinical exome and genome sequencing

The American College of Medical Genetics and Genomics (ACMG) released the widely-anticipated "ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing" report at its 2013 Annual Clinical ...

Genetics created Mar 21, 2013 | popularity 4 / 5 (1) | comments 0

Genomic screening for improved public health

In ten years time, routine preventive health care for adults may include genetic testing alongside the now familiar tests for cholesterol levels, mammography and colonoscopy. As genomic testing prepares to enter the realm ...

Genetics created Mar 07, 2013 | popularity not rated yet | comments 0

Genomic screening to detect preventable rare diseases in healthy people

Experts from the UNC School of Medicine and the UNC Gillings School of Global Public Health propose that screening healthy adults for preventable diseases such as colorectal cancer, breast cancer, and several catastrophic ...

Genetics created Mar 06, 2013 | popularity not rated yet | comments 0 | with audio podcast

About 15 percent of patients with Wolfram syndrome do not meet current diagnostic criteria

Researchers at IDIBELL and CIBERER Virginia Nunes and Miguel López de Heredia have collected data from 400 patients with Wolfram syndrome published worldwide in the last fifteen years to better understand the natural history ...

Genetics created Feb 28, 2013 | popularity not rated yet | comments 0

Anti-cancer drug fights immune reaction in some infants with Pompe disease

Adding a third anti-cancer agent to a current drug cocktail appears to have contributed to dramatic improvement in three infants with the most severe form of Pompe disease—a rare, often-fatal genetic disorder ...

Genetics created Oct 11, 2012 | popularity 3.5 / 5 (2) | comments 0

New study documents women's experiences with chromosome abnormalities found in new prenatal test

(Medical Xpress)—We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers ...

Genetics created Sep 21, 2012 | popularity not rated yet | comments 0 | with audio podcast

Informatics approach helps doctors, patients make sense of genome data

The cost of sequencing the entire human genome, or exome – the regions of the genome that are translated into proteins that affect cell behavior – has decreased significantly, to the point where the cost of looking at ...

Genetics created Sep 20, 2012 | popularity not rated yet | comments 0 | with audio podcast