Posted in March 2013

‘No choice for you’ according to the ACMG

‘No choice for you’ according to the ACMG

The American College of Medical Genetics (ACMG) has recently published recommendations for reporting incidental findings (IFs) in clinical exome and genome sequencing. These advocate actively searching for a set of specific IFs unrelated to the condition under study.  For example, a two year old child may have his (and his parents’) exome sequenced to explore … Continue reading

DNA Sequencing – Can You Handle the Truth?

DNA Sequencing – Can You Handle the Truth?

Having your genes studied  is cheap (about $99) and easy (just spit here). And according to 23andMe (one of the commercial companies that do genome sequencing), ‘knowledge is power’! But what happens if a person’s predisposition for an unpreventable, life-threatening condition is detected?  Is knowledge empowering then?  A recent study by researchers in Australia, showed … Continue reading

The Accidental Research Subject

The Accidental Research Subject

I read an article In the San Francisco Chronicle this week that raised a prickly question, namely – should patients know that they are research subjects?’ http://bit.ly/WqXpR7.  The fact is, most people haven’t a clue. A patient’s participation in research is usually mentioned in standard hospital consent forms.  You give a blood sample because your … Continue reading

Mental health links to genetics

Mental health links to genetics

A paper published in the Lancet on 28th Feb showed that there were shared genetic causes behind autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia.  This is an incredibly exciting discovery that begins to unpick the genetic components of these mental health conditions.  The ultimate spin off could be the … Continue reading