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?

Injections Without Needles

If there is one thing I don’t like it is getting an injection. I have never had a flu shot (but never had the Flu) and part of the reason is the needle effect.

This may all be coming to an end though as scientists here at MIT have devised a way to inject medicine without a needle. See this article for a description.

Needle free injection

The new MIT developed needle-less system

This is not the first time that such a development has been publicized, but a technological and practical leap forward has been made. The MIT system is new in that it can deliver medicine at different depths. This means that medicines can now be inserted into muscle or fatty tissue at will and with ease.

The system uses magnets to achieve delivery, and this is the breakthrough that makes the system so interesting. Needle-less systems have been available for some years now, but they tend to rely on compressed air and are not flexible in terms of pressure. They medicine enters the body but the depth is not variable.

The MIT device works electrically and the pressure is absolutely flexible, allowing the operator to change the pressure of entry but then also lower it to enable distribution to the surrounding tissue. In other words lower pressure can be used to pass through the skin of a child, a process that does not require the same force as passing through an adult’s skin. The pressure can then be lowered to enable the distribution of the medicine to the surrounding cells once already in the body.

This breakthrough means that medication can be passed through other parts of the body too, for example through the eye tissue and directly into the retina or through the ear drum.

As you can see the importance is not really in my dislike of needles but in the loss of the needle.

Needle injuries are common for health workers, and with this system they are removed from the equation once and for all. No more accidental cross infections!

There are also obvious advantages for people that have to inject themselves daily for example in the case of diabetes.

Several major drugs companies have expressed an interest in developing and marketing the product so it looks like the days of the needle might be numbered.

I don’t know if it still hurts a bit though.

Home genetic testing, pros and cons

Recently I have been getting interested in home genetic testing. I have written a few articles about this matter, including a 3 part post on the Bassetti Foundation website about a conference that I attended a couple of weeks ago at Harvard University.

The speaker at the conference was Anne Wojcicki, CEO of the world’s largest commercial genetic company called 23andMe. They offer a kit that you spit into and send back, then they analyze 4 million variables and you check out the results online.

Recent technological advancements have brought the price down beyond belief. What cost $100 000 a few years ago and took months cost $1000 last year and now $300  and can be done while you wait.

What they call Next Generation Genetic Testing has meant that the analysis has become incredibly more intricate, where as a few years ago they analyzed a few thousand proteins, they can now do millions, so if you already had your genome sequenced a few years ago you might want to re-do it to gain ever more information.
A strand of genomeAs I said I went to this conference with the CEO from 23and Me. They are a relatively new company but have the majority of the market share in DNA genetic analysis. The CEO very much presented her organization in business terms, but continuously highlighted the research they conduct in looking for cures for new diseases. They have amassed an enormous database and can conduct statistical analysis on Gene mutations in a few hours that only a few years ago (or without them they argue) would take years.
So what do they actually provide you with for the money?

Results are viewed online, and consist in various types of analysis presented as bar charts, pie charts and statistics. So one line of interest is where your Genes come from, for example how much of you is from Africa, Asia, Europe or elsewhere. How much of you is Neanderthal.

Then we get into the interesting stuff about how your genes relate to your parents, who are you most like.

Carriers and sufferers of diseases learn about their mutations, so if you have or are carrying a genetic disorder this information is also presented.

Then we move onto risks for the future. What percentage rise in risk do you have in your genes for developing certain diseases? Maybe you have a 20% rise in risk of developing Alzheimer’s or getting breast cancer. Here we are moving out of the present and world of scientific analysis and into the world of risk.

A world of interesting information and probably very useful in many cases and just a bit of fun in others, but I would like to raise some issues about the above.

No doctors are involved in giving this information, an individual reads their results online, so one of my reservations is about interpretation. What does a 20% rise in risk of breast cancer mean? How does an individual react to such news? What can or will they do? Also in terms of a negative result what are the effects? I have reduced risk of contracting breast cancer so I skip my mammogram for a few years, after all I am at low risk.

And what if I discover that I have some kind of genetic disorder? Well should I tell my brothers? Maybe they have it too. Do I have the right to tell them? Or am I obliged to tell them? Do they have the right to know or indeed the right not to know?

And ancestry, what if I discover that my father is not the man my mother is married to?

Then as a concerned scientist I start thinking about the data, and discover in the contract I signed (without reading because it is 10 pages long) on the internet gives the company the rights to distribute my genetic information to other research organizations. OK all in a good cause but are they going to make the information non traceable? Is that even possible when such an amount of intricate information is involved? Probably not say the scientists at Harvard.

I am not saying that 23andMe are doing anything wrong at all, their database must be a great resource for science and particularly medicine, possible benefits should not be underestimated and I am sure that their hopes and aims are all pursued in good faith, but I wonder if such a database should not be independently regulated. At present these types of operations are practically unregulated in the US, and maybe this should not be the case. Technology is moving ahead at an incredible rate in this field and nobody can say what this material will reveal, to whom and for which purposes. I note on the video that Christopher linked on his post about Google that they are one of the company’s biggest investors, and as they are a corporation specialized in data collection that does not really surprise me.

Legislation has been passed in the US called GENA, whose aim is to protect individuals from unfair treatment from certain sectors on the grounds of genetic testing. It is not however definitive and as I say only covers specific areas of commerce such as health insurance and employment, but I am dubious about the power of the state to enact laws as quickly as needed. Lawmaking is a slow process in a fast moving world as the genetic testing debate has proved. Equally however we don’t want to slow down the pace of research due to regulation, as that too has serious consequences for individuals who might be looking for breakthroughs in certain treatments.

I fear though that if you pay for such a test and the results show a tendency towards getting a cancer of some sort, a health insurance company might accuse you of hiding or having access to information you should have disclosed, and make life difficult when it comes to paying for the health care you need or for your funeral (I don’t think life insurance is presently covered under the legislation).

Or that one day they might ask you to lick a stick when you go in to the broker to buy your holiday insurance or apply for a job. What do you think?