I attended the workshop on Personal Genetic Testing (PGT) that was held at the Department of Anthropology at University College London on Tuesday 27th of June 2017 (Twitter hashtag #uclpgt). The program included a keynote speech by BBC journalist and author Adam Rutherford, three panel discussions, 1) Science of Ancestry, 2) Ethical Issues on PGT and 3) Social Perspectives on PGT; a tutorial on Security and Challenges in Genomics and two short talks, one by David Bentley (Illumina Chief Scientific Officer) and the other by Amy Webster (Personal Genome Project). What follows is my partial coverage of this event mixed with some of my thinking.
Keynote speaker Adam Rutherford transformed my thinking of genealogy. Introducing the case of the Hapsburg family (Figure 1), a family that ruled over Europe during several centuries in the medieval and renaissance period. He showed how one of the family’s most indicative traits (Habsburg lip), is an outward trait of the inbreeding that went on for generations within this family.
Figure 1 (taken from Alvarez et al): The highly inbred pedigree of the Habsburg family, which explains how the dynasty ended with Charles II of Spain, unable to reproduce, and the subsequent Spanish War of succession, ultimately leading to the decline of the Spanish Empire. This is indicative of how genetics has shaped historical events.
The final Habsburg king of Spain, Charles II, was perhaps the result of one of the most unfortunate of these unions. Also known as “El Hechizado” (“The Hexed”), Charles was severely deformed. The Habsburg Lip (a form of mandibular prognathism), was so pronounced in Charles’ case that it was difficult for him to speak (Figure 2).
Figure 2: Picture of Charles II ‘El Hechizado’.
This example of the Habsburg family not only does show genetics have influenced politics, it is also a proof of how genetics has directly influenced world history and identities. For some countries, what constitutes the country’s genetic identity has led to the quest to find what constitutes a national genome. Rutherford reminds us that there is no such a thing as a British genome or a Jew genome. We live in a continuum where specific genetic variations between human races and tribes are mostly arbitrary.
Workshop speaker Ernest Schwartz-Marin added to this debate, providing the example of the Mexican government claiming sovereignty over the ‘Mexican Genome’. The concept of genetic sovereignty was thus put forward by the Mexican government, agreeing that the state and its genomic scientists would be the custodians of the population genomes within the nation, making sure that whatever benefits are reaped from this endeavour benefit also the Mexican nation.
Coming back to the discussion on genealogical analysis, Rutherford made clear that it is not the same as ancestry determination. Genealogy is based on meticulously annotated family trees. Evidence of shared ancestry does not necessarily suggest common genealogy and it is usual that both terms are confounded. To address this confusion, a new profession has emerged: genetic counselling. Genetic counselling is an important component in any genome interpretation effort and has existed for longer than we think. The first historical examples of genetic counselling could be could traced back to Jewish roots, where circumcision was spared to children in families where hemophilia was observed.
Today’s genetic counselling is comprehensive for the human genome and the genetic counsellor makes sure that all possible risks to genetic testers are discussed before taking a test. Despite common thinking, DNA testing may complicate matters rather than helping, for example, when incidental findings (unexpected results) are encountered. When performing DNA testing, the number of tested genetic markers can be millions (if the whole genome is not sequenced) hence it can open the possibility of finding unexpected clinical risks or paternity.
To conclude, as the new era of Personal Genetics Testing dawns, it is important genetics becomes a means to openness, diversity and culture rather than a politically driven technological endeavour. The Human Genome Project established a precedent for humanity on how to make of genetics a common good. As new technologies become more accessible to everyday life, it is ever more important to guide the public into the potential opportunities and pitfalls this new promising field will bring.
La genética y la familia de los Habsburgo
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