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Guidelines for genetic testing developed by professional societies may be more centered on the concerns of society members than the needs of the individuals and families that may undergo testing. This could be considered appropriate because it will be the healthcare provider who will assess whether to test; when to test; whom to test; and how to provide the right support, interpretation, and follow-up to the individual or family tested. Genetic testing requires guidelines because of the complexity of testing for the individual and his or her family. It also requires flexibility because context matters a great deal in genetics.

The National Institutes of Health announced today that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.

Their study, known as the Autism Genome Project (AGP), was conducted in two stages. The first stage of consisted of a genome-wide association study using genetic data from 1400 families affected by autism; the second stage checked the associations discovered in the first stage using the genetic data from an additional 1301 ASD-affected families and included another new genome-wide association study which combined the study subjects from both stages. When all the analyses were said and done, no SNPs (common genetic variations) were significantly associated with ASD. Furthermore, when some of the SNPs that had been identified in the first study as possibly associated with ASD were tested in the second-stage families, the associations failed to hold up.  This lack of common SNPs associated with ASD is both disappointing and enlightening. Knowledge of what is not true, paradoxically, is knowledge of what is true.  For instance, if I tell you that my pet Tyger is not a dog, you are one step closer to knowing Tyger’s a cat.  Most of science progresses through “not trues” — the failed hypotheses that bring us closer to real understanding. A perfect example of this mode of scientific progress is this recent genetic study.  Their lack of findings was quite a finding.

As of January 2008, Montana screens all newborns with: (1) a metabolic screen (bloodspot test) for the 28 conditions recommended by the American Academy of Pediatrics and the American College of Medical Genetics; and (2) a hearing screen (the 29th screened condition).

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A major pediatricians’ group is issuing new guidelines for physicians diagnosing intellectual and other developmental disabilities. In a clinical report published Monday in the journal Pediatrics, the American Academy of Pediatrics updated its recommendations, which were first released in 2006. Specifically, the new report emphasizes advances in genetic testing in recent years that can aid in providing a more precise diagnosis for children with various delays.