23andMe - Tag Archive

The FDA Shuts Down Home Genetic Testing Company 23andMe

8 Replies Jonny Hankins

On Monday the US Government FDA forced the main home testing company 23andMe to stop selling its saliva genetics home testing kit. As this is their only product this means that they effectively shut down their operation.

Looking at Genes

Looking at Genes

The problem seems to be that the company is offering testing for gene mutations that may lead to rises in probability of contracting diseases. This is considered a medical test by the FDA, and so they require trials and results in order to see how well the tests work before they license them. 23AndMe have been unable or unwilling to provide such results, so cannot market their device unless they take away all of the medical arguments.

This is the technical reason, but there are serious ethical issues surrounding home genetic testing. The following are just a few of my own ideas:

Without serious research doubt must remain about the quality of the results. The samples are not second tested, and the quality of testing cannot be of the same level as other medical hight cost exams. There have been problems reported due to the small number of people involved in the test groups, as statistics require masses of data that are not yet available.

Are customers qualified to interpret the results? What does a statistical rise in probability actually mean to a person that has never studied statistics or probability? And the results are delivered without any counseling, so if there is bad news the customer is left to process the information alone.

Here just a few examples might demonstrate the difficulty. If I have a 1% chance of contracting problem A, but I have a gene variant that means that I am 70% more likely to contract it, I might be distraught. The reality is that I now have a 1.7% chance, very little difference, but I might try to change my lifestyle, treat my kids differently, get paranoid, have preemptive surgery, who knows how an individual will react without medical advice?

If on the other hand I am negative for a mutation for something I might adopt an equally problematic stance. I don’t have the gene mutation that leads to skin cancer so I can stop worrying and have another hour on the sun bed. Social factors are really the big ones in many cases.

And what about testing your children? How will parents react knowing that their child might be susceptible to certain problems later in life?

Oh and if I discover that I have something hideous, should I tell my brothers? They might carry it and pass it on to their children. How personal is this type of medicine? It is familial, not individual.

The 23andMe problem is a prime example of money ruling. They have operated for 6 years, without regulation and blatantly challenging the FDA and medical profession that they see as holding up progress. As far as I can see this is about as far away from the responsible innovation that I have spent my recent life trying to promote as I would like to see anyone go. I would add though that it is a systemic problem here in the USA, not a personal divisive choice, and it is very different to the European approach underscored by the precautionary principal (with all its critics).

For further reading you will find several of my articles linked through this post on the same subject from last year.

The National Post has a good article too that includes both sides of the argument.

The end of Anonymity?

1 Reply Jonny Hankins

Over recent years many people have had their DNA analysed and results posted online. The results have been anonymised, but the vast spread of information on the web calls into doubt the possibility of really making information untraceable.

Last week the Boston Globe ran a story reporting an article published in the journal Science, in which researchers demonstrate how they correctly identified individual identities of the owners of some of this DNA.

DNA

DNA, a personal business

Scientists at the Whitehead Institute for Biomedical Research wanted to identify the owners of anonymous DNA samples that are available for research purposes online. They did not have any high technology, using ancestor tracing websites and freely available public documents.

We are not talking about hackers or expensive programs, we are talking about people with every-day computers and the same understanding of how they work as you or I.

It took a single researcher with an Internet connection about three to seven hours per person, and all in all the identities of more than 50 participants were discovered.

This raises several issues. What about all of those people who gave materials for research who find themselves posted and traceable on the Internet? What obligations do commercial companies such as 23andMe have towards their customers, operating in a more or less unregulated environment? (see here for posts about their organization). Can there be real guarantees of anonymity in modern life? Given the obvious advantages of data gathering how can it better be shared in order to protect individual owners?

The very scientists who conducted the research argue that the privacy problem needs to be completely re-analysed, with some scientists dubious that privacy to any extent can be guaranteed.

Problems related to this are both practical and philosophical. In the US the GINA legislation was set up to protect individuals from the effects of their DNA codes (and analysis of it) falling into the ‘wrong hands’. The wrong hands in this case are those of health insurance companies, that might not want to insure a person (or may want to charge more) because they have one particular gene mutation or another.

There are shortcomings however, the GINA legislation does not allow health insurance companies to discriminate on the basis of DNA testing, but other insurance companies are not legislated against. Life insurance and long term care insurance is not covered under the document, so in theory they would be free to decline cover on the basis of DNA analysis. This is particularly important as long term care is extremely expensive and is not covered through health insurance.

Given that anyone who has given their DNA for research purposes risks being identified, they may also risk discrimination.

Home genetic testing, pros and cons

7 Replies Jonny Hankins

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?