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In the years following FDA approval of direct-to-consumer, genetic-health-risk/DTCGHR testing, millions of people in the US have sent their DNA to companies to receive personal genome health risk information without physician or other learned medical professional involvement. In Personal Genome Medicine, Michael J. Malinowski examines the ethical, legal, and social implications of this development. Drawing from the past and present of medicine in the US, Malinowski applies law, policy, public and private sector practices, and governing norms to analyze the commercial personal genome sequencing and testing sectors and to assess their impact on the future of US medicine. Written in relatable and accessible language, the book also proposes regulatory reforms for government and medical professionals that will enable technological advancements while maintaining personal and public health standards.
When very young children are brought to a doctor or hospital with signs and symptoms consistent with head injury, it is important to determine the cause. For almost 50 years, the triad of subdural haematoma (SDH), retinal haemorrhage (RH) and encephalopathy has been regarded as an accurate predictor of deliberate shaking and widely used to diagnose shaken baby syndrome (SBS). Statistical analyses by Cardiff University researchers and others claim to show that certain combinations of findings are highly predictive of abuse and as a result of this conclusion, protocols such as mandatory reporting to police are invoked in the name of protecting the child. However, concerns have been raised about the circularity of approach used in the statistical analyses which requires each case to be classified explicitly as either abuse or non-abuse. By producing a causal model of the problem, we show that these findings are actually a poor predictor of SBS, even where there is some evidence of risk factors indicative of abuse.
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