Genomics Blog

March 2, 2013 1:00 PM
Personalized Medicine for children still in its infancy
Filed Under: GE3LS Stephan Struve

Nowadays, parenting decisions go far beyond social or educational responsibilities - they even extend to the molecular level. More and more parents are eager to test their children at a young age for potentially dangerous genetic mutations in an effort to adjust their lifestyle choices. However, current reports highlight the social and ethical dilemmas of genetic testing of the young ones, such as the lack of pre-test counseling for parents or even the education of practitioners.

To guide parents and clinicians, the American College of Medical Genetics and Genomics (ACMG) and the American Academy of Pediatrics (AAP) issued a joint statement recently regarding genetic testing of children. The announcement is intended to provide guidelines for best practices in the increasingly complex arena of genetic testing. Interestingly enough the existing guidelines were over ten years old and have finally been reviewed due to technological and soci-cultural pressures on health care deliverers, as well as parents.

Foremost, the authorities urge for “better education for healthcare providers about genetic tests and suggest engagement with parents is necessary for children to reap the greatest benefit from genetic tests and newborn screening”. I am certain that most parents vastly overestimate the knowledge or qualification of pediatricians to interpret genetic testing and adjust the care delivery accordingly. Parents should keep in mind that clinicians and practitioners are trained to deliver health care, but barely have the time or sometimes even educational background to stay on top of genetic research, risk genes or how to adjust treatment accordingly. The joint statement thus recommends that trained genetic counselors assist in the testing process to support parents and practitioners, as well as that "education in human genomics and genetic testing should be expanded for medical students, residents, and pediatricians, so that they can provide more knowledgeable counseling to patients”.  

The authors of the statement acknowledge that there is a lack of qualified genetic counselors at the moment, but hope that education of healthcare providers is a step in the right direction.

This being said, testing children for genetic diseases also raises questions around consent and ethics, which is crucial to consider. While the genetic testing technology is becoming more and more accurate, medical intervention is still marginal. For instance: testing for all known risk mutations might be pointless. "Testing a two-week old for BRCA, for the breast cancer gene, is totally unnecessary. Nothing can be done clinically, and you're not going to change anything," said Laine Ross, lead author on the papers, to GenomeWeb Daily News. "And in some ways you really want to wait until that child is old enough to understand, so that they can be part of the decision-making process," so Ross. Nonetheless, certain negative health outcomes can become present in early childhood and genetic testing can guide parents’ decisions, such as the choice of housing and its location.

It is important to remind the public - and parents in particular - that only a few genetic illnesses can be treated efficiently. We have to manage expectations about how genetic tests lead to a better and ultimately perfect healthcare delivery. While the terms of Personalized Medicine and the 'next medical revolution' are being touted ubiquitously, Gina Kolata reported for The New York Times recently that “genetic mutations are only found in about a quarter of all cases [of genetic testing], and the test leads to better treatment plans in only about 3 per cent of cases and improvement in about 1 per cent of cases.” These marginal numbers are sobering but give a much more realistic impression of the current potential of improving healthcare delivery through genetic testing. The New York Times article chronicles for instance the quest of parents to identify the disorder that were plaguing their children until a whole-genome analysis finally revealed an extremely rare mutation. In that particular case, the treatment was adjusted to improve the children’s symptoms.

The video below is from The Time magazine from October 2012 and deals with genetic test for children. While the clip has a tendency to hype and overpromise genetic testing, it eventually tackles some ethical questions. Overall, however, I think it is pieces like this that exaggerate the current potential of improving health care delivery through genetic testing of children.


Nonetheless geneticists warn that very few families get a happy ending through healthcare delivery tailored to genetic tests. Proper training of practitioners and guidance through genetic counselors is crucial to assist parents with these decisions. Meanwhile, the research community and bioethicists still have to tackle the question of informed consent on the part of the parents and the children.

While genetic tests might not necessarily improve treatment at this point, they can help with other things such as access to special resources or services, as well as guiding lifestyle choices.

[Image taken from]