Sequencing Baby DNA, a Project in Boston

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.

Radar and Speed Camera Apps

20 years ago I worked above a garage in Manchester. The owner was a young man who liked fast cars, but in Britain the roads are monitored with cameras and speed traps making it easy to lose your license through the points deduction system.

My boy racer friend had a solution however, on the rear view mirror he had a radar detection system. These systems were illegal to use, but not to own, so although visible to a passing police officer there was little they could do about it.

20 years on the technology has improved. Now for 6 euros you can download Radardroid, it sits in your smartphone and informs you when you are getting close to a speed camera or radar. This App sends a visual and sonic signal to warn you, so you can slow down and avoid fines and potentially losing your license.

To think it used to be like this!

Modern technology means less places to hide

There are many systems available. Some like Radardroid are openly helping you to avoid abiding by the law, but others market themselves as driver help tools. They let you know when there is a traffic jam ahead, bad weather or a radar by describing them all as ‘risk zones’. These systems have even been endorsed by some European governments and car manufacturing companies are starting to put the technology directly into their cars.

One problem remains however, in some countries the use of this technology is prohibited. Germany and Switzerland enforce bans on such technology, something that was easy with older systems that could be spotted from outside the car. But what about if it sits within your phone. How can a sovereign state stop people driving on their territory with an App in their phone? Will they stop cars that are factory fitted with the technology from crossing their borders?

I doubt that enforcement will be possible, and this highlights just one of the problems of the management of a single market across different sovereign countries. Technology transcends geographic boundaries, as the internet buying of banned products has proved.

And this leads me to my final question, does this mean that people only abide by the law because they think that they might get into trouble if they don’t? What are the ethical implications of the marketing and endorsing of such products? If this process continues many laws will become obsolete as technology finds ways to avoid being caught.

In Italy you have to pay to use the motorways, so you get a ticket when you enter, that you present when you leave and pay. On some motorways they have introduced what they call a tutor. It is old school technology, the ticket has the time you enter stamped on it. When you leave the time is registered again. If you cover more distance than is possible while remaining within the speed limit you get a fine. A simple A to B calculation that has dramatically cut deaths on my local motorway.

If you are interested in reading more about ethics in technological innovation take a look at my work blog.

Sequencing the genome of unborn babies

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?