Nascent Transcript Author: Anna Miller A recent decision by the pharmaceutical company Novartis to provide 100 free gene therapy treatments for spinal muscular atrophy (SMA), a debilitating yet rare genetic condition, to patients selected through a lottery program has sparked debate about the ethical implications. SMA is a rare autosomal recessive genetic disorder caused by... Read More
Nascent Transcript Author: Nicole Ferraro Direct-to-consumer (DTC) genetic testing has allowed millions to directly interact with their genetic data and test results. This presents largely uncharted avenues in which our work as geneticists interacts with the public. A recent example involved a genome-wide association study1 that produced a polygenic risk score explaining <1% of variance... Read More
Nascent Transcript Writer: Jeff Calhoun Due to the reduced cost of next-generation sequencing and the demonstrated utility of genetic diagnoses, more and more individuals are having their genes, exomes, and even genomes sequenced in a clinical setting. This testing ranges widely from gene panels to identify cancer subtypes, to array Comparative Genomic Hybridization to identify... Read More
Written by Nascent Transcript writer Allison McCague August 2018 May 21 of this year marked the tenth anniversary of the Genetic Information Nondiscrimination Act (GINA), a landmark piece of legislation that Senator Ted Kennedy—one of the sponsors of the bill—called “the first civil rights bill of the new century of the life sciences.” GINA’s passage was the... Read More
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