Ángel Carracedo (1955) is Professor of Legal Medicine and Director of the Institute of Legal Medicine of the University of Santiago de Compostela. He is an internationally renowned expert in forensic genetics and member of regulatory bodies such as the Forensic DNA Regulator in the UK or the International Society for Forensic Genetics (ISFG), where he was president between 1999 and 2005. On the national level, he is also president of the Spanish Society of Pharmacogenetics and Pharmacogenomics (SEFF). His services have been required in famous cases of forensic investigation such as the tsunami in Southeast Asia or the 2004 Madrid jihadist terrorist attacks. As for genomic medicine, he has participated in the identification of genes involved in colon, breast and thyroid cancer. He has also taken part in detecting molecular basis of psychiatric diseases such as schizophrenia and other diseases such as Alzheimer’s or autism.
We had the chance to interview him, on the occasion of Professor Carracedo’s visit to participate in the Del laboratori al tribunal («From the lab to the courtroom») formative conferences, organized by the Institute of Legal Medicine of Valencia last March. One of the topics that aroused most interests among geneticists and magistrates was the one presented by Dr. Carracedo, who did not leave anyone indifferent at a conference on the interpretation of the DNA test where he showed his educational virtues. There, the Professor at the University of Santiago de Compostela tried to explain the real meaning of probability in forensic genetics to the attendees, which is presented as a standard for estimating likelihood. After his talk, a willing Professor Carracedo, who used the same relaxed tone of his lecture, and I spent a few pleasant minutes at the virtually empty facilities of the City of Justice where we discussed about medicine, genetics and the dissemination of science.
Genetics has triggered changes in many areas of Biology.Apart from biological research, to what extent has Genetics affected the law itself? Criminal investigation was always a need as it allows looking for objective evidence for the judges to assess evidence better. But the boom in genomics research means a revolution that is so great in so many fields that we do not fully comprehend it. In forensic medicine we have gone from nothing to being able to solve a very large percentage of cases. In clinical genomics results are impressive, as are the advances in pharmacogenomics. Having knowledge of the genome has even revolutionized the understanding of history, and now we can better understand the migrations of human populations. Actually, we do not realize, but all this has affected our lives in many ways, and even justice of course.
And in the near future, how will all these new tools provided by genetic research keep modifying and conditioning the judicial process?For example, I am referring to tools such as genomic banks, which are now a reality as evidenced in technologically developed countries. What can go beyond that? Firstly, DNA databases are effectively legislated in most technologically developed countries. But they also exist in countries where there are no democratic freedoms. And we must also think very well on all ethical consequences that such things can mean. The balance between security and self-determining information, ultimately freedom, is definitely very delicate. And these are things that we should ponder upon more often. Regarding the forensic field, what interests us most at the moment is the prediction of physical characteristics from a contact sample of any biological vestige: Try to predict eye colour, which we do very well, or other areas in which much still remains to be investigated. There are many things to do in the forensic world and in the medicine world because we are in the early stages of a revolution in understanding the disease.
Do you think that judges need a better preparation in order to understand these new tests which are offered by genetics? Or should scientists get their position closer in order to be understood? The most important thing that has happened in the world of forensics, besides the introduction of DNA, has been our capability to assess the uncertainty of our opinion, that is, to provide a probability. This has been very important. As specialists, we still have many difficulties and hold many discussions about how to calculate the probability of matching profiles in complex situations. It is a very big challenge that we still have to deal with. But actually there is a greater challenge, which is knowing how to communicate it without misleading the judge. Spain is one of the countries where a greater effort is being made to learn how to address this issue. It is vital to introduce an understanding of probability in training programmes for magistrates, prosecutors and judges. It is the only way left to be able to assess correctly what specialists say. We all have to make an effort.
You have collaborated on media cases where tools of genetic identification have been necessary: The Alcasser teenage girls case, the 2004 Madrid jihadist terrorist attacks or the identification of remains at Las Quemadillas in the Breton case. Have you ever felt any pressure either social or media while working in such cases? Yes, and this is why I have progressively moved to the clinical world while leaving it in the hands of forensic experts. I find the media pressure unbearable in many cases. I think that it jeopardizes our legal and expert autonomy, and I am concerned. Finding a balance between that and the right to information is very complex. That is why I have worked more on Clinical Genetics for many years now, although I still have many international responsibilities on the forensic front, and I honestly sleep much better now [laughs].
Issues such as autism in children… Autism is an issue that hugely worries me because it is a disease, disorder or spectrum of different disorders that have a large genetic component because heritability is enormous. We find in many cases which is the underlying genetic cause. This was not known until recently and it represents an important landmark in order to better understand autism, find therapies, stratify the disease… and of course, provides genetic counselling to parents who want to have another child and do not want him or her to be autistic. This has been a great revolution, autism and intellectual disabilities are two areas where progress has been made and we are learning a lot about it.
Do you think that psychiatric illnesses and their genetic component have been neglected from the research standpoint? Yes, those diseases have been traditionally stigmatized and have been given less attention. But not only in research, also in social and health care… For example, if a child breaks a leg, his classmates visit him at the hospital or they sign his plaster. However, and I am not even talking about children with schizophrenia, anorexia is still considered a taboo subject. And they are as biological diseases as any other, but in this case with a significant genetic component.
«Actually, we do not realize, but all this has affected our lives in many ways, and even justice of course»
«It is vital to introduce an understanding of probability in training programmes for magistrates, prosecutors and judges. It is the only way left to be able to assess correctly what specialists say»
«I find the media pressure unbearable in many cases. I think that it jeopardizes our legal and expert autonomy, and I am concerned»
How far or near are we from this genomic or personalised medicine and what will its consequences be? For me it is a matter of extraordinary importance. Genomics has so far had a brutal impact on Mendelian diseases, which are all inherited. But the most important thing that will happen in medicine thanks to genomics, other omics and system biology is a completely different classification of diseases: stratified and not based on signs and symptoms but on molecular basis. We won’t say high blood pressure, arthritis or schizophrenia anymore, which are symptoms after all. Instead, we will end up saying «He has high blood pressure» as if he had just a fever, but what he actually is this or the other and he needs this particular medication. This is becoming a reality now. There are some personalized medications, but it will be a huge revolution in the very near future. It is very important to prepare the health system and society in general for this coming revolution.
What is your opinion regarding the perception of forensic genetics in general? To begin with, I think there is a lot of what I like to call the «CSI effect.» People generally consider that DNA tests are always 100% accurate. It usually has an important value, but sometimes it is not that much important. In general, when we talk about science, education is very important, making it available for children. We understand very little about the world around us, but it is vital to understand what we do know because it is the only way to be more free and have better judgement. That is what freedom means.
In fact, you are very involved in scientific projects and activities for young people. Is it necessary to introduce science in popular culture? It is vital. I travel every week, I attend to international conferences and European consortia. But despite this and how complicated my life is, at least once a week I go to a school or to an educational institution. I give more importance to science communication rather than to an article in «Nature» or «Science». Unfortunately this is not valued curricularly, but as I am already over these things I can make an effort [laughs]. It is crucial, as the existence of magazines like Mètode is.
Do you believe that these new applications such as genomic medicine could be socially rejected to some extent like other disciplines of genetics were?I am referring to, for example, products originating from biotechnology. I don’t think so, but we should explain it very well in order for it to not happen. Although from an ethical point of view, I agree that just like genetically-modified food was considered the «bad guy in the movie» at the time, there are many exaggerations or many ethical blurs, and sometimes there are more difficulties than expected. But I do not expect rejection from citizenship, although it will depend a little on how we explain things, and that is why education and science communication are so vital: to avoid us being manipulated. For example, DNA databases we have… Do we want everybody’s data since birth? What does society think about that? Only a well-informed society could freely make a decision, and that is the same that will happen with personalised medicine. So it is logically necessary to give more importance to science diffusion.
So, do you believe then in this new concept of «Citizen science» or «Participatory science» referring to the citizenship as active commentators on scientific research? I think it is very important that all citizens reflect on the applications of science. But this involves a well-informed science to avoid that people are manipulated. These are completely connected topics. That is why it is so important to educate properly and I think that what we actually need is a change in the educational model, but not as political parties conceive it. They always pull out a new subject or a new University access exam.
Or they get rid of it… Exactly. It is a much deeper issue. It is all about teaching differently. Teach the reality of the world that surrounds you, the one we do not know. Stimulate curiosity and creativity. Here, the only thing that matters is memory and work, which is not bad at all, but there are other qualities that must be exploited. The basics must be understood. Maybe it is not necessary to know that a sea urchin has an Aristotle’s lantern and fifty thousand other names, but it can be useful to see how it behaves in its environment or why it is disappearing. We must understand everything better. As I said, our freedom depends on it.
So you advocate for putting an end to the two cultures as coined by C. P.Snow. Totally.
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