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Study Questions Value of Genetic Testing

Fri, 27 Apr 2012 15:33:36 -0500

Whole-genome sequencing will provide little useful information for individual risk assessment, a study of genetics' predictive accuracy for 24 diseases suggested. Based on data from studies of monozygotic twins, the analysis showed that genetic testing would yield negative results for a majority of people in all but one of the diseases. For two-thirds of the diseases, a negative test still left a person with a 50% to 80% risk of developing the condition. Original source: Whole Genome Sequencing

Newborn screening to be expanded in pilot study

Fri, 27 Apr 2012 15:39:29 -0500

More than half of the babies born in the UK will be screened for five rare debilitating disorders as a result of a year-long NHS pilot scheme running from July. Around 430,000 babies will be screened for the disorders using a blood sample which is already taken from newborns.

Points to Consider in the Clinical Application of Genomic Sequencing

American College of Medical Genetics and Genomics (ACMG) — Thu, 26 Apr 2012 21:37:57 -0500

Major advances in DNA sequencing technology have made it possible to do large-scale sequencing, up to and including whole genome sequencing, in an effort to identify a gene mutation that may provide a diagnosis for a patient with an abnormal phenotype. This strategy offers potential advantages over classic approaches in which genes are analyzed individually, often over a long period of time and at substantial expense. As a result, there is considerable interest in offering genomic sequencing-based tests on a clinical basis. This document outlines points to consider in the clinical application of genomic sequencing to the detection of germ-line mutations.

DNA Patent Licensing Under Two Policy Frameworks: Implications for Patient Access to Clinical ...

Lori Pressman — Fri, 27 Apr 2012 15:25:44 -0500

In 2009, the Association for Molecular Pathology and a group of physicians and patients filed a lawsuit against the U.S. Patent and Trademark Office (USPTO) and Myriad Genetics based in part on the premise that certain patents owned by and licensed to Myriad Genetics obstruct patient access to diagnostic tests for the presence of mutations in the BRCA1 and BRCA2 genes, and by implication that patents of that type, so-called ‘‘gene patents,’’ obstruct patient access generally. Stimulated by a combination of theory and case studies, proposals for improving access often include removing or mitigating certain presumed identifiable proprietary positions, i.e. ‘‘gene patents,’’ via nonexclusive licensing, in some cases by compulsory licensing, patent pooling, or by rendering certain subject matter patent ineligible. The Department of Health and Human Services (HHS) Secretary’s Advisory Committee on Genetics Health and Society (SACGHS) identified an opportunity to conduct a natural experiment on the effect of the scope of exclusivity in patent licenses.