MDIS

Management Development Institute of Singapore

Diploma in Biomedical Sciences

Genetics Report, Genetic Testing

S9326006F

Tan Wen Juan Karmaine

Genetic testing is the process of investigating an individual’s DNA to identify specific genotypes. Through identifying changes in chromosomes, genes or proteins, a genetic test can help determine a person’s chances of developing or passing on genetic disorders, and confirm or rule out existing genetic conditions. It is used as a diagnostic tool for medical purposes, as well as for non-medical reasons, such as in forensics, genealogical and parental testing. Genetic testing also serves as a source of deriving information for biological scientific research. The Human Genome Project is an example of genetic testing on a massive scale – an international scientific endeavor, it was an effort to sequence, map and understand all of the genes in the human species, collectively known as the ‘genome’. As the human genome contains roughly 3 billion base pairs of DNA, and each of our 23 chromosomes has hundreds to thousands of genes, this was no small feat. The results of this research provided the basis for huge advancements in isolating specific genes and determining their functions.

Genetic testing can be helpful to individuals with family histories of health issues or conditions that are caused by recessive gene disorders. Pre-symptomatic and carrier screening identifies these genetic predispositions that reveal hereditable risk. Diagnostic testing is done when symptoms arise that may point to a disease caused by underlying genetic alterations. Pre-natal and newborn screening identifies genetic abnormalities in fetuses and infants, and can detect disorders like Down’s syndrome and trisomy 18. With advancements in technology, DNA testing is only becoming increasingly accessible to the public. Now, the commercialization of DNA tests has made the process as simple as spitting into a tube and mailing it off to a lab. A few weeks later, your genetic data is available for you online. Services like 23andMe allows consumers to discover their genetic ancestry and maternal and paternal lineages.

A core ethical issue in genetic testing is the issue of permeating the perception that we are victims of our heredity. Screening tests identify ‘at risk’ individuals of developing a genetic disorder or abnormality. However, these figures are estimations and may or may not prove to be true. For example, many women who are judged as ‘high risk’ give birth to normal, healthy babies, and inversely, some women posited to be ‘low risk’ do end up with infants with genetic disorders.

The accessibility of genetic analysis may have negative consequences on individuals who are not able to handle the psychological burden of knowing the weaknesses in their genetic makeup. Individuals who rely on genetic testing as a means of attempting to forecast their future well-being could easily fall prey to the limiting perception of genetic determinism. Here is a

hypothetical scenario demonstrating the notion of genetic determinism.

A woman undergoes genetic testing, only to discover that she is at high risk for developing breast cancer. Upon this revelation, her fundamental fears of death and illness grow. She believes, indubitably, that cancer will one day come, for it is in her genes. Fearing the worst, she opts to have invasive pre-emptive surgery; a mastectomy, to remove the at-risk regions. This relieves her fear and provides her with a sense of security.

Consider the alternative.

The same woman, at a high genetic risk, does not get genetic testing, and therefore never finds out about the perceived threat of cancer. She continues, unaware, and does not develop cancer.

The question is, who is to say that she will not develop cancer? The conventional argument is this: if we assume that the woman is genetically predisposed to cancer, it would only help her to get genetically tested so that preventive (although sometimes drastic) medical interventions could be taken.

Now this would be true and irrefutable, unless, somehow, the very situation of her not getting tested, and therefore not being consciously aware of her genetic proclivities could somehow affect the outcome of whether or not cancer would form - in other words, if her beliefs about her health actually affected her health.

In fact, recent epigenetic and biological breakthroughs have only shown that we have much more control over our lives than previously imagined. The American Cancer Society recently recognized that over 60 percent of cancer is completely avoidable solely by changing lifestyle and diet. Developments in epigenetics have revealed that perception plays an important role in determining gene expression. In other words, what you believe and how you perceive the environment actually determines how your genes express themselves. Dr. Bruce Lipton, author of “The Biology of Belief”, says in an interview: “The mechanism of epigenetic control is that the behavior of the genes is mediated by our perception of the environment…our response to the environment includes our interpretation of the environment, and that is where the variabilities arise…it is our perceptions that control our biology.”

The very scientific paradigm is shifting – it is no longer so much about nature vs. nurture, about the interplay between nature and nurture – in this case, genetics and environment – and how they shape and influence each other. Indeed, the new frontier of science

has revolutionary implications on mainstream human affairs, health and healing – as we discover the connective relationships between the physical, biological and psychological sciences.

In ‘The Genie in Your Genes: Epigenetic Medicine and the New Biology of Intention”, Dr. Dawson Church demonstrates the link between consciousness and genetic change, showing how beliefs and emotions trigger the expression of certain DNA strands: “By taking control of our consciousness and using it to influence our genetic expression, we can sometimes bypass years of therapy, as well as harmful drugs and invasive surgeries, to, in effect, do continuous genetic engineering on our own bodies. This can produce both immediate relief from long-standing anxieties and neuroses, as well as "miraculous" healing of persistent physical conditions, especially autoimmune diseases.”

A study on meditation showed that the meditation group experienced genetic changes, including reduced levels of inflammatory genes RIPK2 and COX2. Meditation alters genes rapidly and triggers molecular changes, indicating faster recovery from stressful situations. Dr. Richard J. Davidson of the Center for Investigating Healthy Minds concluded, “Our genes are quite dynamic in their expression and these results suggest that the calmness of our mind can actually have a potential influence on their expression.”

In summary, it is crucial to remember that genetic analysis only highlights pre-dispositions and do not reflect destiny. The implications of this scientific research reaches beyond the world of academia and into our daily lives. We are not victims of our genes. While genetic testing may show us our baseline temperaments and predispositions, the conventional view of genetic determinism no longer holds validity. Although we are all born with a specific genetic makeup, it is within our power to change, to essentially reprogram our genetic expression and, quite literally, be the best version of ourselves.

(1155 words)

References:

http://www.soundstrue.com/shop/articles/Breaking_News-Science_Discovers_Intelligent_Life-In_Every_Cell-An_Interview_with_Bruce_H_Lipton_PhD

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The Genie in Your Genes: http://books.google.com.sg/books?hl=en&lr=&id=jynDyHMONo8C&oi=fnd&pg=PA27&dq=related:5buiQN7H1iUJ:scholar.google.com/&ots=sS-m151heA&sig=c_s6tqk6IljAiAx8e7UNSQcfT9U#v=onepage&q&f=false

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