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Questions 2012 1. Question 1: It is reported that it will soon be possible to sequence a person's genome for under 1000 Euros. Would you want to have your genome sequenced? What would be the potential advantages and disadvantages , particularly as related to your health? What would you like to know about your health risks and those of your family and what would you rather not know? How might this information lead you to modify your life style or life choices?

DNA is composed by bases linked to hydrogen bridges. These bases bind in certain ways, the Adenine always connects itself with Thymine, as well as the Cytosine binds to the Guanine. The sequencing of the human genome is the same as to know the sequence of letters corresponding to the bases (A, G, C, and T) which we have in our own DNA. A chromosome can have from 50 to 250 million bases, and multiplying it by 46 chromosomes, it will be too much to decode. From the 3 billion letters that exist in our DNA, only a few letters are different, because 99% of our DNA is equal to the DNA of the person sitting next to us. It is this 1% that makes us unique, what makes us who we are. This sequencing is the starting point for the task of identifying approximately 30,000 genes, and to see how they encode and how the regulation occurs among them, and it allows us to know

the

cause

of

many

diseases,

allowing

their

diagnosis

and

their

cure.

It is amazing how our idea of "conception" has changed in just 10 years. We are in 2022. Today I’m finally going to choose my son. I'm still uncertain about the eye colour. The mother wants them blue, but I think brown would be better. As far as the rest is concerned, I have no doubts. I want him to be as healthy as possible. He won’t be aggressive, but competitive, and live as long as possible. However, there is something that worries me. My future son. If I were likely to have a heart attack, he could also have ... I still remember when the sequencing genome, was, finally accessible to all. For less than 40 € I could sequence my own genome, something I have always wanted to do since I knew it was possible. I knew there was a high probability of having a heart attack when I was 30 years of age, causing my possible death. I was a bit shocked, and I thought how my life would be thereafter. The only thing I could do, was to change the previous years of "bad food behaviour" and to exercise more. Today I'm 37 years old and I’m still here. In the past, when babies were born, the "Guthrie test" was immediately done to diagnose the presence of certain diseases. Since the sequencing genome of the newborn was introduced, the "Guthrie test" has become obsolete. Today parents know, the pre-implantation genetic diagnosis that your child is potentially healthy, and, at birth, by the new born genetic diagnosis, the general characteristics, physical and psychological, of your child, including his future lifelong expectation. Of course, genome sequencing led to more than the test at birth. We spent the Darwinian natural selection to the artificial selection that biotechnology and biological engineering peddled. From then to the genetic selection was an apex. The processes


that previously were applied to plants and animals, are now applied to humans. Almost nobody wants to have a child by "mating". "In vitro" reproduction, although not obligatory, is the preferred choice. First, one proceeds to the selection of gametes with the greatest potential gene, then one follows the usual procedures: the pre-implantation genetic diagnosis to select the most viable embryo and with the desired genetic characteristics; the application of assisted reproductive techniques, and if there are no other problems, after nine months of controlled pregnancy, a healthy baby and "genetically correct" will be born by caesarean section on schedule. I also want the best for our son. I want him to inherit the best genes from me and my wife. Today, in the clinic, I will choose my son, or even better, the most suitable embryo. Now, since everything is settled, we will transfer the embryo into my wife’s womb. Only the unpredictable will be in nature’s hands. Along the way the car radio is giving the news: "Recent polls show a huge increase in average life expectancy of the country’s inhabitants. Obesity, as well as, crimes in recent years reduced to figures close to zero. "But how much has our world changed?

Mário João Seixas Soares, nº18, 12ºA 2011/212


Question1 - DNA day 2012 Mário Soares