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?

A Bad Memory Erasing Pill

The February issue of Wired magazine contained an article about an interesting medical breakthrough related to memory. Scientists working on the development of a pill that can erase bad memories have achieved success in laboratory rats.

memory erasing pill

Bad memories, a thing of the past?

It is a long and detailed article, but I will try to summarize it in a few sentences. Memories are stored in different parts of the brian, emotions in one part, visuals in another etc. In order to remember something a sort of chain must be formed that link the separate parts of the memory, a chain formed by protein. If you can block the protein you can block access to the memory.

Scientists have been experimenting for decades to try and find a compound that can do this, and recently seem to have found one that works on rats. The experiment is relatively simple, the rats are exposed to series that they learn to recognize, an example might be a series of musical notes followed by a painful electric shock. As soon as the rats hear the first note in the series they get scared and agitated. Administer the compound and the association is lost, you can play the series and the rats no longer remember the consequences until BANG, the shock arrives.

Cruel but bearing important consequences, if the links in the chain can be broken then the memory is not cancelled but the individual no longer has access to it.

As I said above different parts of the memory are stored in different places, so the hope is that different compounds will be able to delete different aspects of painful memories. One might close access to the memory of the scent of an ex girlfriend who left you for your best mate, or the pain experienced in an accident, or the vision of your dog jumping out of your third floor bedroom window while chasing a ball that you accidentally threw too hard for him to catch, or other such traumas.

Talk is of selected memory loss by pill, but of course this is far in the future if ever at all, but the very prospect raises some interesting ethical dilemmas. We are who we are by experience. I don’t play with knives; I have a scar with 7 stitches in my hand to remind me why, but even without it the memory of a Christmas Eve trip to Wythenshawe Hospital lingers on.

And having seen various governments conduct more than questionable research on their own populations (and others) and I am not just talking about despot regimes but the very birth states of democracy themselves as this apology given by President Obama demonstrates, I sincerely question the ethics behind such a development.

So the question is this, are we seeing a great medical and technological breakthrough, a leap in human advancement, or the creation of another dangerous tool once it gets into the wrong hands?

The State of the Blogosphere

Technocrati.com have recently published their State of the Bolgosphere 2011 report and it raises some interesting questions. The report is based upon a survey of 4114 bloggers around the world, and presents various statistics in easily readable graph format explaining who blogs and their stated reasons why and purposes.
A chalkboard expression of what a blog might be
I am one of the 30% over 44 year olds, with the majority being considerably younger than me and much more experienced. A small percentage treat blogging as their job, make an income from their posts or run a blog for their own business or employer. The vast majority do it as a hobby, in the main to express their expertise or interests. A major sector say that they just blog in order to speak their mind freely.
I am most interested in the professional category, and I in fact find myself somewhere within that group. I am not however paid to promote something, but to provoke discussion about the ethical implications and responsibility issues brought about by technological development, and one of my tools is blogging. My employer is also a non-profit research foundation, so the aim of making money is out of the equation.

Blogging is generally perceived as a pier to pier action, and the report cited above demonstrates that people trust blogs and bloggers, in many cases more that they trust other publishers. But what if we find people publishing reviews about services or products that they have a vested interest in? If I am paid by a company to review or promote their products can I be really honest in my views? And what about the breech of trust implied?

In the US the FTC (Federal Trade Commission) made a ruling in 2009 determining that bloggers have to state if they are paid for posts by an interested third party. If a blogger in the US does not state that they either receive the product to keep or are paid by someone to write the review they risk an 11000 dollar fine. In the UK the Office of Fair Trading also has extensive blogging disclosure rules. All well and good, but the report above states however that only 60% of people that find themselves in this position actually adhere to the rules, and the statistics are very likely to be skewed, as when a person is asked if they have respected the rules that almost always say yes.

How could this problem be addressed? The Technology Bloggers site refuses to publish anything that may be deemed promotion, the author guidelines are clear. But would it be possible for all blogs make this statement and enforce it, and if it were possible would they do it? The implications for trust and the spreading of reliable information are obvious.

Another issue I wish to raise involves advertising. The report offers various statistics about how many blogs have advertisement placings, before going on to analyze the reasons given either for not carrying or carrying advertising, the issue of control over who advertises and the possible financial rewards.

Here again we step into the issue of trust. If a blog has a reputation as offering reliable and quality information this reflects upon the company advertising. The placing is a two way endorsement. If advertising is not offered (as some may feel that it affects independent status or may not reflect the blogger’s ideals), how can a blog not only make money (if that is the aim) or even cover its expenses? Most bloggers sink their own money into setting up and running their blog, and if you add up the time spent in maintenance (and the administrators are undoubtedly experts in their field) each blog should be seen as a real investment in terms of many different forms of capital. You pay $120 an hour for such expertise in other fields!