DNA as Destiny

Development in personalized medicine could greatly influence the current standards of diagnosis, prognosis and treatment. The Human Genome Project guaranteed a revolution in the individualized treatment concept. Just as a person’s characteristics are unique to their genomic information, the origin to a disease could be correlated with the genomic sequences unique to that person. An advantage of such a therapeutic approach is diagnosing the possible susceptibility to a disease and preventing this outcome by providing drug therapies much before its outbreak.

There are no two individuals that are completely alike, people vary by hair color, height, skin tone, gender and other endless possibilities. The reason for these variations can be traced back to our genetic make-up. A person as 23 pairs of chromosomes and each of these chromosomes carry one molecule of DNA. DNA itself is made up of adenine, thymine, guanine, and cytosine, then, these chemical compounds wrap around each other to form a double helix. These chromosomes contain around 20,500 genes and even with such a large number our variations are caused by less than 1% of our genes according to the Human Genomes Project in 2003. These variations also come from genotypes and phenotypes. A genotype is the complete set of genes that make a person’s hereditary, whereas, a phenotype are psychological, behavioral, and psychological features that result from the interaction between genes and the environment.

Sometimes, this can be a difference of just one base pair. These differences are called polymorphisms and are the key to DNA typing.(3)

When analyzing DNA, the analysts create a DNA profile for each evidentiary piece of DNA. The DNA profile is based on 13 markers, or locations, within the genome. These 13 markers are chosen because they show a high variability between individuals. By using these 13 markers, the probability of 2 individuals having the exact same 13 markers is infinitesimal. But DNA profiles as they are now are made for identification purposes only. The profiles are not meant to contain personal genetic information (Matheson, 2016). But through the work of Susan Walsh, together with colleagues in the Netherlands, they have been able to create models for eye colour and hair colour. For the model on eye colour, they have a 95% accurate predictability rate, but only for brown and blue eyes. They have not done as extensive of work on the other colours of eyes. For the model on hair colour, they have a 90%

Our incessant curiosity for knowledge and answers has prompted the intricate research institutions we know today. Among the volumes of research, scientists have searched for innovations to better understand the human body and edge closer to more individualized medicine. In 1990, breakthroughs in genetic technology allowed for researchers to begin a quest to map and understand all the genes of human beings. A mere 13 years later and just shy of $3 billion invested the Human Genome Project successfully mapped the billions of base pairs involved. With the ability to diagnose specific abnormalities, researchers and medical professionals have saved hundreds of ill children to which their survival was indefinite. However, with scientists continuing

The Human Genome Project, also known as HGP has helped our society crack the code in the small differences between human DNA that make up our health and can already pinpoint future illnesses. HPG was an international joint research preparation with the goal of mapping and trying to understand all the human genes sequences through generations. Researchers have been able to decode our genomes and understand them in three different ways. First off they have been able to see that our genome’s DNA has a certain order, and that order helps make up who we are; Secondly they are able to map where certain genes are and where they are located on the chromosomes. And third, being able to produce “linkage maps” that can help track inherited traits

23andMe make a constant claim that their growing understanding of genetics is reshaping medicine. Their product uses token pieces of information from the most basic level of the human genetic sequence – which still includes a three-billion letter string of A’s, T’s, G’s and C’s (the code of DNA) that is very similar in most everyone. However, there’s an estimated 10 million different places in the genome where a single letter in the sequence can be different from one person to the next. Those particular letter variations are known as SNPs, or single nucleotide polymorphisms, and they form the basis for the genotyping that 23andMe offers and analyzes due to the fact that there are thousands of SNPs are scattered across 23 pairs of chromosomes. The technology that 23andMe is referred to as a BeadChip, which is not a microprocessor, but a miniaturized genetics lab, according to their description on their website for “Genotyping Technology”. The BeadChip is a small glass slide with millions on tiny beads on it’s surface, where each bead has probes with complementary DNA for sites in your own personal genome where SNPs of interest are located. After a person’s DNA is chopped into pieces and washed over the chip, different fragment sticks await their complementary cells. Though a little complicated, scientifically, 23andMe claims it is a very simple and reliable method in practice! The technology that is used is Illumina HumanOmniExpress-24 format chip, which then

The DNA Mystique looks into the power of the gene in today’s society. Dorothy Nelkin and Susan Lindee (1995) describe the evolution of the gene as a cultural icon. Society puts a huge emphasis on understanding everyday behavior and the “secret of life” through genetic essentialism. According to Nelkin and Lindee genetic essentialism “reduces the self to a molecular entity, equating human beings, in all their social, historical, and moral complexity, with their genes” (p. 337). DNA is used as a way to define the individual’s true self and understand the evolution of a person’s identity. Nelkin and Lindee discuss the intersection of science and popular culture to shape the cultural meaning of the gene (p. 338). They lay out a timeline of genetic mapping and the use of genome research to determine future outcomes.

As we know, everyone one has a unique gene sequence. Personalized medicine is helping us to understand disease characteristics at the gene level and create better treatments programs by studying our genetic profile. A web writer at the American Society for Clinical Pathology John Sarver (2013) says: “The

Since the invasion of the western culture on the rest of the world, a new standard of science has emerged. This new breed of scientist digs for answers wherever he/she thinks that they may be found, with no compassion for the environment around them or the outcome of those actions. The modern day scientist seems to have a problem with accepting nature for the way it is and instead, is trying to constantly rearrange it for the proclaimed reason of, the good of man. DNA research began over twenty years ago because, mankind has always had a lust for how we work and operate. DNA, it was found, seemed to be the blueprint for how the human genetic structure worked and operated. This was where science obviously needed to be headed as it was after all, the possible key to all of mankind’s questions of itself. Some years after, the massive project began known as the Human Genome Project. The project began with the promise of, in the end, being able to figure out the cause of almost every human malfunction and the cure for it (Thomas, p 51).

Since its discovery in the 1980’s, the application of DNA has been utilized in many ways. When Deoxyribonucleic Acid, or DNA is examined, a precise decoding of genetic information is revealed. With the exception of identical twins, every person’s genetic code (commonly referred to as a Genetic Fingerprint) is inherited and unique. From Maury advising men everyday on TV “You ARE the Father!” or “You are NOT the Father!” to learning the descendents of former slaves are related to President Thomas Jefferson, we have come to rely upon and expect the accuracy of DNA.

In 2010, Francis S. Collins penned The Language of Life: DNA and the Revolution in Personalized Medicine. At that time, he was the director of the Human Genome Project and now currently serves as the head of the National Institutes of Health. Collins is an American geneticist who was influential in discovering the genes responsible for cystic fibrosis and type II diabetes. The Language of Life: DNA and the Revolution in Personalized Medicine begins with a rough overview of genetic principles that will be used in further chapters. The book delves into dominant and recessive genes, single nucleotide polymorphisms (SNPs) and other genetic mutations, as well as, various conditions that arise from the previous genetic circumstances.

A study was conducted that questioned the role of the organization of copy number variants and wondered what type of duplications they are. It was known that that copy number variation plays a big role in many human diseases but at the time large scale studies of these duplications had not been done. They decided to sequence 130 breakpoints from 112 individuals that contained 119 known CNVs by doing whole genome sequencing as well as next generation sequencing. They found that tandem duplications comprised 83% of the CNVs while 8.4% were triplications, 4.2% were adjacent duplications, 2.5% were insertional translocations, and 1.7% were other complex rearrangements (Newman et al., 2015). The copy number variants were predominantly tandem duplications which made it the most common type of copy number variant in the human genome according to the results of the study on this

What is DNA? Is it these winding strands that look like ladders or is it what gives a person blonde hair and blue eyes? Actually, DNA is both of these things. DNA is a person’s genetic makeup–their hereditary blueprint passed on by their parents. It is a part of almost every cell in the human body. In each cell, a person’s DNA is the same; it stays the same throughout their lifetime. DNA is found in skin tissue, sweat, bone, the root and shaft of hair, earwax, mucus, urine, semen, and vaginal or rectal cells. The DNA found in a person’s saliva is the same as the DNA found in their blood. Parts of the DNA determine our physical characteristics, such as eye and hair color, height, and bone structure, but the

However, the same SNPs may be found among several populations and is limited by the diversity of the SNP database, thus potentially producing false positives ("Admixture Analyses").