13 July 2015
ByAppeared in BioNews 810
In a new position paper, published 20 years after its original 1995 guidance, the ASHG discourages testing children and teenagers for genetic mutations that increase the likelihood of adult-onset disease. It recommends only testing children where a clinical intervention is available in childhood, and says that genetic tests should usually focus on a single gene or small group of genes based on a clinical assessment of the patient.
The new guidance to families, clinicians and researchers recognises how much genetic testing has changed over the past 20 years, with advances made in whole-genome sequencing, chromosomal microarray analysis and pharmacogenetics. 'Direct to the consumer' testing has also expanded, offering people easier access to personal health-related information.
However, it warns that the increasing ease in acquiring genetic information can also have profound consequences, especially for children, as 'information which is largely probabilistic... may trigger stigma or discrimination,' explained Joseph McInerney, executive vice-president of the ASHG. This was identified as a particular ethical issue in relation to 'secondary findings' – findings that are unrelated to the original condition that prompted the genetic test.
'Kids are always considered to be a vulnerable population because they can't make decisions for themselves,' said Professor Jeffrey Botkin of the University of Utah and chair of the working group that produced the report. 'It's important to be respectful of the parents' right to make decisions for them, but at the same time the situation can lead to challenging circumstances.'
Professor Botkin added: 'We all hope for bright futures for our children but a genetic prediction might create a dark cloud that changes how the family and others think about that child.'
The ASHG has also drawn attention to 'the gap between scientists' ability to identify genetic variants and their ability to interpret what they mean' (see also BioNews 804 and 807). In an attempt to narrow this gap, the ASHG has recommended further work linking genetic variations to specific diseases and further evaluation of pharmacogenetic testing in predicting how children respond to drugs.