The serious concerns about the ethical consequences of genetic research are exaggerated and sometimes even scientifically unjustified. In fact, half criticism is directed at the wrong target
Genetic research has diverse ethical implications, which tend to raise concerns in the hearts of many. This week it was announced that two national committees will soon submit their reports on studies in this field, with an emphasis on those centered on the collection of DNA samples. The committees were established due to the legal and social implications of the research, and due to the need to draft regulations regarding the use of genetic material of human populations. Undoubtedly, there is a clear justification for holding a discussion on the subject, even if it is possible that a single committee would have done the job no less efficiently. But it seems that some of the concerns raised by the committees and the people who testified before them are exaggerated and sometimes even lack scientific justification.
A short parable may clarify some of the matter. Researchers in the field of anthropology in Brazil have been doing research on the structure of the human palm for decades. They photographed different palms, compared their length and the relative thickness of the fingers, the hairiness of the back of the hand and the changes that apply to the appearance and size of the hand from birth to old age. Only a few were interested in the findings, until the Manu-Select company was established, which aimed to make profits from these scientific results. The company's scientists decided to create a database of tens of thousands of computerized photographs of hands and to create hardware and software that would identify people according to the structure of the hand.
The company built a sophisticated device that scans the palm of the hand and identifies its owner without question. The demand for the computerized device is high and it has been installed in factories, airports and border crossings, including in Israel. The company made handsome profits, employed hundreds of workers, paid taxes as required and contributed to the development of the economy. Then, all of a sudden, doubts arose among the authorities concerned. The main claim was that the hands are organs of the human body. Every person has a right to the palms of their hands, and it is unthinkable that a commercial company would use palm data for its own private benefit and without state supervision. Concerns were also expressed that the concentration of information about people's organs in private hands would provide them with confidential information that could be used against them. For example, it has been proven that there is a correlation between the thickness of the fingers and ethnic origin, a very sensitive issue in Brazil.
Furthermore, in the committee appointed to investigate the matter, it was claimed that when the research involved dozens or hundreds of palms, as was customary in the old days, it was legitimate. But when you gather information on tens of thousands of palms, it is a matter of using a resource that belongs to the entire nation. The committee recommended establishing a national database for computerized images of hands and developing means to use the data at the national level, so that the entire nation could benefit from the research. The money for the national fund was not found due to the difficult economic situation, and on the other hand, the government began to restrict the steps of the Manu-Select company, and the end of the one that had to transfer its activities to the United States. There she could continue to thrive and invent new and sophisticated systems based on quantitative measures of human organs, such as fingerprints and retinal models.
And now for example. In the real world, a biometric device of the type described was indeed developed and there was no objection to it. But when it comes to other "organs" in the human body - the chromosomes - the recommendations of the Israeli committees, as published in the press, are surprisingly similar to those in the Brazilian example. In the chromosomes, these "volumes" in the hereditary encyclopedia, there is precise information on the construction of the body's organs and systems. And just as each palm is different from its neighbor, so too in chromosomes there is enormous individual variation, and there are many sites in them where each person has a unique DNA sequence. For some reason, the froth came out precisely about studies dealing with this diversity.
As long as it was about parameters common to all human beings, DNA research did not arouse much opposition. Such studies have been done for many decades. It was discovered in them that the total sequence of DNA in each cell contains about three gigabytes of information. Each "value" in it is a gene that codes for a protein, and the tens of thousands of proteins build the cells that make up every living being. Genes were discovered that supervise the structure of the brain, the immune system, the balance of electrolytes and the level of cholesterol.
The new field of genome research has greatly helped to expand the boundaries of medicine. In many medical studies, samples of blood, urine, skin, cancerous tumors and more were collected from patients, and databases containing hundreds of thousands of samples were created. Research of the components of the human samples, while using the knowledge acquired about DNA, helped and continues to help develop new drugs and improve the use of sustainability. The ministries of health, science and industry in Israel supported hundreds of studies of this type, many of them in collaboration with the biotechnology industry, and no one objected.
For reasons worth trying to understand, enormous social and ethical sensitivity arose when the genome project took another step. In the new phase, it is about taking advantage of the fact that the entire genomic sequence has been decoded, it is possible to do, with relatively cheap means, comparative genomic research between different people, without "re-sequencing" entire genomes.
At the center of this new development is the technical term SNP, which means a point difference in the DNA sequence between different people. So, for example, at a given place in the sequence, the genetic letter A may be found in half of all humans, while the letter C will exist in the other half. There are several million sites like these, so it is a sort of giant toto form in which every individual on the planet has a different combination.
The breakthrough is in the technologies that focus on the various sites, and these provide valuable information. But the way in which any combination of branches determines human characteristics is still very far from deciphering. At this stage, the scientists are trying to "scratch the surface" by characterizing the role of several hundred sites - less than XNUMX percent of the total variation. A combination of statistical insight and experimental sophistication has resulted in the last three years in a new and interesting approach, called association studies. Today it is possible to find out what the "subform" is responsible for a certain disease of the so-called multigenic type. That is, it is possible to study a disease resulting from a defined combination of SNP variants at five or ten different sites in the combination. These diseases are the most common and include, for example, heart attacks, blood pressure, osteoporosis (leakage of calcium) and mental illnesses such as schizophrenia. There is a clear difference here compared to monogenic diseases, for example cystic fibrosis, where a change in a single gene causes the disease. Most of the concerns about sectarian stigma are derived from the latter type, where there are clear cases of a much greater prevalence in a certain sect, for example Tay-Sachs disease in Ashkenazi Jews.
In the world of multigenic diseases there is almost no trace of this kind of asymmetry. The branch combinations show only small deviations in comparison between ethnic groups. Why, then, are association studies conducted among certain ethnic groups? Why did the Jerusalem ID Gene company choose to focus on Ashkenazim, while the Dikod Genetics company on Icelanders?
The full answer is in the field of mathematical-statistical genetics, and the sheet will be shortened to detail here. But the principle is simple: it is much easier to identify which SNP sites contribute to a disease, for example asthma, if you work in a human group that has undergone a genetic "bottleneck" in the last thousand years. Indeed, due to the riots suffered by European Jews in the Middle Ages, there was a time when only a few thousand Ashkenazim survived, and from them, in intra-denominational marriages, all the millions that exist today were born. The population in Iceland, about 400 thousand people, was created by about 2,000 Vikings who came from Norway in 1000 AD. A surprising and relevant phenomenon for this matter is that the multigenic diseases are not more common in the special populations, they can only be studied there more easily. The work in large groups of subjects is also dictated by the statistical needs only, and there is no ill-intentioned attempt to control the data of an entire population. Therefore, the claim of sectarian stigma is not valid here.
Furthermore: in those cases where a certain community does have "bad genes", it is almost always not genetics, but classic epidemiological medicine that points to this. For example, it is known that multiple sclerosis is much more common in northern peoples, and this without us having the slightest idea what the DNA sequences are responsible for. An absurd situation is thus created, in which half of the criticism is directed at the wrong target. It is worth emphasizing that even if in one way or another any community is caused grief, it is only temporary. The long-term result of such studies is diagnosis, treatment and cure, which are studied with the help of one ethnic group but benefit patients of all ethnicities.
It therefore seems that there is an overreaction here. The association's research, in which the committees were actually appointed, is currently being done all over the world, and there is great hope in developing drugs and treatments. In countries endowed with suitable populations, such as Iceland, research becomes an economic lever that promotes biotechnology as a whole. In these studies, a simple question is asked: Is there a difference between a group of patients and a group of healthy people in this or that genetic marker? The researcher does not have any knowledge about the patient beyond the mere existence of his disease, knowledge found in any medical research whatsoever and not only in genetic research. It does not seem, therefore, that there is any more violation of privacy here than in any other research done on patients. The committees must make sure that genetic research, like any medical research, is done with absolute confidentiality and under the supervision of a local or national ethics committee, that is, with the help of well-oiled legislative mechanisms that have been in place for a long time. Like any excessive financial intervention from above, the establishment of unique mechanisms specifically for special types of genetic research may do more harm than good.
The author is the head of the Genome Center at the Weizmann Institute of Science and a consultant to the biotechnology company IDGene.
