A genetic genealogy test is not a medical genetic test

Following the publication of the report of the Senate hearing on legalising genetic genealogy tests, in which the French Federation of Genealogy, DNA PASS and the companies Filae and Geneanet participated, here is the first part of the argument I prepared.

A genetic genealogy test is not a medical genetic test
67 million genealogists in France
French genetic identity
The Right to Origins
Legalise genetic genealogy tests in France

100,000 French people are tested each year in foreign laboratories, the phenomenon having increased in the last two years with the emergence of MyHeritage, a new international player in genetic genealogy.

100,000 a year. This means that at least 1.5 million French people have entrusted their DNA to foreign laboratories, despite the current legislation prohibiting such tests and the risk of a very theoretical, yet to be applied fine of €3,750.

Many French people have taken this test without thinking that it could be illegal. And many of them do not understand why a genealogical origins test is illegal.

French law prohibits two types of tests, medical genetic tests, only accessible to doctors, and paternity tests, only accessible to the judicial authority.

Genetic genealogy tests have been in existence since 2000 and are authorised throughout the European Union, with the exception of two countries, Poland and France.

French legislators can ask themselves whether it is necessary to authorise genealogical genetic tests for citizens who want to discover their origins.

But to explain the different genetic tests that exist, and their fundamental differences, we need to understand what a genetic test is.

Here is a short summary.

DNA Fundamentals

DNA contains all the genetic information, called the genome, that living things need to develop, function and reproduce. Wikipedia

It consists of 4 bases, Adenine, Thymine, Cytosine, Guamine, (symbolised by their initials A-T-C-G) working in pairs. A partners with T forming the AT base and C with G to form the CG base.

We have 46 chromosomes, in addition to the X and Y chromosomes depending on our sex, each chromosome being made up of genes. In each gene, the succession of these 4 AT-CG bases governs all aspects of our being: physical characteristics, medical risks or protection against medical risks, behavioral traits, the functioning of our organism, etc. That is about 20,000 genes.

It is the mutations, or variants, in this sequence of AT-CG base pairs, where A is associated with G when it should not be, for example, that identifies us as unique. These variants, appearing in every 100 or 1,000 base pairs, are found identically in population and family groups, and identifying them allows us to link them together.

The number of coding bases, always expressed in pairs, differentiating humans from other species, represents just over 1% of our entire genome, or 35 million base pairs.

The laboratories are limited to an analysis of about 700,000 base pairs, or 1.4 million letters, which is sufficient for their genetic genealogy purposes.

To draw a comparison, a novel has about 2,000 characters per page. Deciphering this small part of our DNA represents 700 pages entirely blackened by the sequence of letters without dividing spaces.

So when a genetic genealogy lab analyses our DNA from a saliva sample, it collects information about our DNA through this 1.4 million sequenced-letter file called the raw data file.

As you will have understood, in its raw state this data file cannot be used by anyone.

Genetic genealogy tests and medical genetic tests

With genetic genealogy testing, individuals sign a contract with laboratories allowing them to interpret this raw data using a "translator," a computer program with algorithms, to obtain ethnic and family data exclusively.

If the laboratory wants to analyse the medical data, it will have to pass the raw data file through another program, which will perform a medical analysis.

So, we shouldn't talk about medical genetic tests but rather medical or genealogical analysis of genetic tests.

Let's draw a parallel with my professional field. In a bank, the customer entrusts us not only with their money, but with precious confidential information about their income, wealth, and way of life as revealed by their purchases, subscriptions, etc. We have all this personal information at our disposal, but we will not necessarily be able to use it. Regulations, professional ethics and French law require us to respect a contractual framework regarding the confidentiality and use of this data.

In order to ensure that we comply with them, inspections can be organised and substantial fines given.

Just because we have personal data doesn't mean we can use it as we see fit.

Similarly, just because a genetic genealogy lab has this raw data file doesn't mean it can be used for medical studies. It must respect the contract with its client, who only ordered a genealogical analysis of a genetic test.

The misinformation about 23andMe

And yet, 23andMe does. It is even accused of selling DNA data to pharmaceutical laboratories. This false information is detrimental to genetic genealogy testing.

Let's re-establish the truth on the subject.

23andMe sells genealogical genetic tests, medical genetic tests and a pack combining the two. In 2008, I had no choice, only this double test pack was available to me. Since then, 23andMe has changed its commercial policy. So, in France, you can no longer buy a medical genetic analysis. Only a genealogical analysis of a genetic test.

After purchasing a genealogical genetic test, the laboratory will ask us in the account parameters if we agree to participate in their medical research program by answering online questionnaires and giving our DNA. This agreement is revocable at any time.

80% of 23andMe's nearly 10 million users have agreed to participate in this medical research program.

Genetic data is anonymised. No name, birthday or other personal information is associated with the transmitted raw data file, making it impossible to identify who, among the 10 million users, the file belongs to.

This data is used by 23andMe, in cooperation with major American universities, to conduct public-interest scientific research and publish work on all kinds of diseases.

23andMe has twice sold access to these raw anonymised data files, for hundreds of millions of dollars, to pharmaceutical companies for medical research purposes.

23andMe does not sell data files (as wrongly reported in the press) but sells temporary ACCESS to anonymous information from these data files for medical research purposes.

On 29 November 2019, the French Ministry of Health carried out a similar operation with its Health Data Hub. The French state gives access to highly sensitive medical data from our state health insurance, medical and hospital records anonymously to public medical research actors but also to selected private start-ups, in order to develop services which benefit those who are insured or ill. Unfortunately, this Health Data Hub does not yet integrate genetic data, an area in which France lags behind other countries.

The difference is that this access is provided free of charge by the French state, while 23andMe, a commercial company, profits from it, with the agreement of the people it concerns. That is us, the owners of the data, the people tested.

If genetic genealogy tests were authorised in France, there is no doubt that the French would be willing to provide, free of charge, their raw genetic data for French medical research purposes.

A genetic genealogy test is not a medical genetic test.