genome - Tag Archive

Sequencing Baby DNA, a Project in Boston

1 Reply Jonny Hankins

Last week the Science in Mind blog on my local Boston.com website ran an interesting story that is definitely worthy of reflection. It involves 2 local hospitals that are carrying out a project funded by the National Institute of Health (USA). The projects involve sequencing the DNA of newly born babies over the next 5 years. Read all about it here.

Babies to have their DNA sequenced

Babies to have their DNA sequenced

Now sequencing the DNA of babies carries with it several risks and ethical concerns, as well as well argued benefits. If we take the benefits first, doctors may gain information about a baby, such as high risk for a certain disease, genetic mutations that may require changes of lifestyle etc. They might also find explanations for problems that might otherwise go undetected.

There are though as I say risks and concerns. How will parents react if they discover that their baby has a high risk of an incurable disease? How will the knowledge gained through the test effect the way the parents view and behave towards their children? Are we giving families information that will change their understanding of parenting to such a degree that it might destroy the very fabric of their social relationships?

This is not to mention the social implications of giving out such information regarding extended family. If for example I am told that my baby has a genetic mutation carried by the parents that might have a serious effect on its life, should I tell my brothers and cousins so that they can screen their prospective wives, make decisions about having children or even worse a pregnancy already in course? And not to mention the obvious problem of discovering that the father is not the man stood in the room with the mother.

These problems are in fact the issues that the researchers running the project are hoping to look into. The question is if the clinical benefits outweigh the risks of such an approach.

I have written a lot about this subject in recent years if you would like more to read:

In June of last year I wrote a post here on Technology Bloggers called Sequencing the Genome of Unborn Babies. I also raised a lot of similar ethical concerns in May of the same year in Home Genetic Testing, Pros and Cons.

On the Bassetti Foundation we find DNA Privacy Issues from January of this year, a series called Architectures for Life from 2012 and a review of a book called Go Ask Your Father, just for starters.

My own personal view is that much of the promise peddled to us surrounding medicine and the sequencing of the human genome has yet to be delivered. One problem is money. Personalized medicine sounds like a great idea. I get my genome sequenced, we can see which drugs might work the best, the type of treatment I need etc. But drug companies cannot make, test and market a drug especially for me even with all of this information, it is just not cost effective. They want big sellers, generic medicines that work to some extent on everybody, not something that is fantastic for me with my particular gene pool.

There are clinical benefits, I am not arguing otherwise, but we must wait to see how great.

Sequencing the genome of unborn babies

2 Replies Jonny Hankins

As a follow on from my post about genetic testing last month, I would just like to point community members towards a story that is just breaking here in the US.

The New York Times carried a story on its front page on 7th June in which it reported that an unborn baby’s DNA was sequenced with 98% accuracy using just the mother’s blood and father’s saliva. The testing was done when the fetus was 18.5 weeks old. The accuracy was tested after the baby was born with a full sequence conducted on blood taken from its cord. A second experiment involving blood taken from a mother much earlier in the pregnancy (8 weeks) showed similar results although slightly less accurate.

non-invasive testing of a fetus now possible

In purely practical terms the authors point out that this system of testing for genetic disease is completely non-invasive, and this will save the lives of many unborn children. Presently amniocentesis or chorionic villus sampling are the preferred means for conducting tests for genetic disorders, but these techniques lead to the loss of the baby in about 1% of all cases as they both require the insertion of a needle.

The ethical implications of such a breakthrough are being widely discussed however. Much of the debate revolves around the idea that parents may choose to abort a fetus because it may not carry the traits they desire, and not only in terms of possible genetic diseases. We all know about the problem of female fetus abortion, and here we are introducing an entire matrix of more or less desirable features. There is also a serious problem of false positives, as some mutations were missed in the experiment and other positives given that at birth were found not to be present.

An argument that recurs involves the identification of diseases that may affect the individual in late life such as dementia. What kinds of decisions are parents of unborn children likely to make if they are told that it carries a mutation in a gene that raises its chance of getting cancer, or dementia or any other typically later life problems?

In this world of information however I imagine that there will soon be a market for such tests in the style of 23andMe, and as the price comes down many people will want to see the probable health future for their unborn children, as well as whether they will be tall or short, blond or brown or have blue eyes. This will have practical consequences for society.

If the model follows the existing 23andme path of offering statistical analysis of the chance of developing diseases in life the problem becomes even more complex. What might the effect be of telling the parents of an unborn child that it has a 40% increased possibility in developing for example Alzheimer’s disease? How can these statistics be analyzed and how will they be interpreted?

And what might the consequences be for an otherwise healthy fetus that finds herself caught up in statistical gambling?