Genetic Testing: A Brief Review of an Emerging Science and Healthcare Controversy

Genetic Testing – A Personal Story

About two years ago, genetic testing became a fairly charged topic in my family following my cousin’s brush with colon cancer. Shortly after his diagnosis and commencement of treatment, several members of my family went for genetic testing to discover that they too had the colon cancer gene. On several occasions my father asked that I get tested and each time, I declined. Though my answer was not well received, I felt (and continue feel) strongly that my genetic code is only one small piece of the wellness spectrum so rather than putting emphasis on this element, I have decided to focus my attention on fostering wellness through a healthy mind and spirit supported by a vegetarian diet and exercise.

Genetic testing was in my awareness prior to the colon cancer findings in my family, though I never gave it much attention until it became the Romig topic du jour. Since that time, I have had a peripheral curiosity and also concern about the process as I watched family members become engulfed in worry for one another, and even guilt that their lineage may have been responsible for passing along the gene. Over time though, the emotions died down and things have returned to a more cautious level of normal though I often feel like there is a subtle vibe of fear lurking in the corners when health topics come up. On the flip side of the coin, however, I want to recognize that when my other cousin was tested after his older brother was diagnosed, and subsequently learned that he too had the gene, he started to rethink his life. I observed that he looked at the foods on his plate differently and at his lifestyle with new lenses. For me, this is the quandary around genetic testing. Does it generate a new layer of anxiety and fear of wondering when the cancer will strike or does it stimulate change for a healthier way of living? Could there be other implications with having access to this type information?

Though genetic testing may not be considered a nutritional controversy but more generally a healthcare topic, I feel that as it becomes more widely used as a preventative healthcare measure, understanding this tool is essential for nutritionists when treating clients. It is my goal to explore a few relevant topics within genetic testing such as emotional implications for the patient/consumer, social implications, privacy, current legislation, planetary implications and the broader spiritual implications in the hope of offering a well-rounded discussion around a very controversial healthcare topic.


With preventative medicine on the rise in the US, genetic testing has become one of many assessment tools utilized to help individuals understand their potential risk for developing life-threatening and life-altering diseases like colon cancer, breast cancer, Huntington’s Disease and more. (Sweeney & Legg, 2011) Because genetic testing is a relatively new technology within the medical community, understanding results, providing proper counseling and maintaining privacy of the patient are essential to the growth and continued use of this tool. (Bancroft, 2010)

A study looking at trending in cancer genetic testing noted the primary concentration of interest among a few demographic groups including families with high risk, young people and those with immediate family members already diagnosed with cancer (mainly breast, colorectal or cervical). Though studies show that there is generally an interest in genetic testing when polled, the degree to which patients actually follow-through with testing is much lower, potentially due to lack of pre-test counseling and fear of results. (Bancroft, 2010)

With the advent of Direct to Consumer (DTC) genetic testing (testing offered online via a home sample kit), the options are opening up to a much wider audience begging the question of what implications lie in this method of assessing the current and future health of an individual.

Emotional Implications of Genetic Testing

One of the reasons genetic testing has become a topic of debate, not only by healthcare providers but by psychologists, is the potential emotional impact on the individual who is now exposed to a wide range of data on their own genetic code otherwise hidden within our cells. What does unlocking this information really mean to the patient? What are the emotional implications of knowing one has a gene for breast cancer, colon cancer or any number of other terminal diseases?

A number of studies point to the rising concern that, for many, knowing their genetic disease code could create an additional layer of anxiety, depression and worry for themselves and their family members. Not to mention the additional strain placed on healthcare professionals who are increasingly faced with questions from patients about how to deal with positive test results. (Wolff, et al, 2011)

Several studies have been conducted in an attempt to gauge emotional impact before and after receiving results of genetic testing. The findings are varied and often depend on the level of medical and/or psychological counseling before and after the test.  In a 2010 article published by the Journal of Advanced Nursing, 63 studies on the interest in, and effects of, genetic testing were selected and referenced.  A study referenced from Atkan-Collan et al (2000) surveyed 271 participants seeking out genetic testing for cancer to determine the emotional impact of receiving positive or negative test findings. The overall conclusion was that up to one year beyond the test, there were no negative emotional implications, though professional medical counseling was provided for the duration. (Bancroft, 2010)

Another study referenced by the Journal of Advanced Nursing from Bratt et. al (2000) found that men with a high familial risk of cancer had a greater level of anxiety and distress about the disease until they were tested (Bancroft, 2010), suggesting that familial risk in itself creates anxiety and the knowledge post-test could in fact lessen the worry.

Unfortunately, there is a flip-side to this argument for people who have no familial history with certain cancers and test positive, thereby creating a new level of anxiety for individuals. A study conducted with 60 women noted an increase in post-test distress of those who had no history of breast cancer but tested positively. (Bancroft, 2010)

Of all studies focusing on post-test distress and anxiety, the majority reflected an increase in these emotional responses by participants upon learning they were carriers of a cancer gene. While this increase is important to note, some researchers believe that with appropriate post-test counseling, the emotional impact would decrease over time. (Bancroft, 2010)

Social implications

How genetic testing affects the social structure is only recently getting attention as more and more patients/consumers make the choice to have their genetic make-up uncovered. One of the biggest concerns noted in studies revolves around discrimination in the work-place and with insurance companies. (Bancroft, 2010).

Genetic testing used as a tool for preventive medicine originated behind the closed doors of a doctor’s office, offering patients the opportunity to receive counseling and guidance on whether to have the testing completed and how to cope with the results. Though results are discussed behind closed doors, there has been a growing concern of disease discrimination among employers and insurance companies who may find ways to acquire test results. (Prince & Berkman, 2012)

The recent emergence of literally dozens of direct-to-consumer (DTC) genetic tests, are being touted as the answer to privacy concerns, however, this method of testing poses a new spectrum of potential implications including lack of counseling and misinterpretation of results. Despite these concerns, DTC tests are readily available to consumers on the Internet and can be conducted with complete privacy outside of the boundaries of the medical community and insurance companies. (Ducournau, 2013)

Genetic Testing Legislation

In 2008, congress passed the Genetic Information Non-discrimination Act (GINA) to thwart potential discrimination of patients based on their genetic code. Though this act succeeded in protecting patients that received genetic testing but had not contracted the disease, it failed to protect those who may have used genetic testing as part of the diagnostic process. The term ‘manifestation’ has become the sticking point of this legislation lingering in the Act as undefined terminology that provides a substantial hole for insurance agencies and employers to act on genetic information. Though the Patient Protection and Affordable Care Act will negate any long-term effects of GINA’s hole in 2014, the very premise on which the law was written may have future consequences of other laws to be passed concerning genetic testing.  (Prince & Berkman, 2012)

A Discussion of Direct-to-Consumer Testing Implications

Though there are a wider range of studies conducted in the area of medically guided genetic testing, direct-to-consumer (DTC) genetic testing poses a new challenge for the field of medicine as services like 23andMe and others emerge into the marketplace (there were many other services listed in this article, however most of them have since gone out of business). The greatest concern voiced among professionals regarding DTC testing is the lack of medical guidance upon receiving the results leading to potential misinterpretations of somewhat complex information. (Sweeney & Legg, 2011)

Another concern discussed among health professionals is the marketing methods DTC companies are using to attract consumers. In an article published in Health Sociology Review, Pascal Ducournau, et al discuss a concept called healthism which is ‘the preoccupation with personal health as a primary – often the primary – focus for the definition and achievement of well-being; a goal which is to be attained primarily through the modification of life styles, with or without therapeutic help’.  According to Ducournau, this concept contributes to the cultural focus on morbidity, longevity and even the idea of somehow evading death. (Ducournau, et al, 2013) ‘Healthism’ seems to be at the root of DTC marketing messages like 23andMe’s slogan “Living Well Starts with Your DNA.” (23andMe, 08/28/13)

Another potential concern addressed by Ducournau, et al is how disease prevalence and probability are rated, scored and explained to the consumer in their genetic report. For example, someone may receive a report reading a high genetic probability of a disease that has low prevalence of occurrence. (Ducournau, et al, 2013) All of this begs the ethical implications of DTC testing which has been under the watchful eye of the Federal Trade Commission. In response to the rising interest in DTC services, the FTC published a report on their website educating consumers about fraudulent claims, the importance of undergoing professional counseling to review results, and how to find a reputable DTC company. (, 08/28/13)

Planetary Implications

Though the planetary implications are not directly addressed in relevant research, one can draw from the social implications that as genetic testing becomes more wide-spread, and ‘healthism’ views propagate, the global healthcare consciousness and awareness could become literally microscopic, leading to ethical concerns about genetic engineering, infant testing, abortion, etc. which dovetails into the spiritual/ethical implications of genetic testing.

In the fictional satire Oryx and Crake, author Margaret Atwood takes a futuristic look into the topic of genetics from a planetary stand-point. In her book, the growing fixation on genetic imperfections and mutations drives scientists to begin genetically engineering not just food but sentient beings in an effort to find perfection and optimal utility across all species. Initially, these laboratory-born animals and humans are marvels of modern science, but over time, devastation ensues as the perfected genomes start mutating causing wide-spread destruction to humanity and natural life on earth. A few humans that were born naturally without genetic interference make it their mission to restore mankind back to its natural balance.

Though Atwood’s post-apocalyptic tale portrays an exaggerated story around genetics, it offers an opportunity for the reader to take a closer look at how scientific tinkering can go astray and destroy more than it creates.

Spiritual and Ethical Implications

In a world where science is increasingly leading the field of medicine and nutrition, ancient traditions such as Ayurveda and traditional Chinese medicine, which draw on a more holistic view of health, are somewhat at odds. Though the two are not mutually exclusive, at what point does the dependence on science begin to overwrite the deeper levels of intuition, and the bigger picture of healing for the practitioner and the patient? A spiritually aware person can use science as another tool in their toolbox but are we drilling down too deep? Are we becoming so afraid of our own physical suffering and mortality that we will stop at nothing to live as long and as healthy as we can?

When considering the spiritual implications, it is my humble opinion that genetic testing could threaten to take the focus off of the big picture of life. A society that is steeped in emotional suffering (as supported by the thriving anti-depressant market) and shifts their focus to avoiding physical suffering may perhaps be missing the bigger picture of connecting to something greater. Although one can legitimately argue that having genetic testing done means someone is taking responsibility and is being proactive with their health, does medical disease avoidance make us happier? Or does happiness through a connection to community or something greater help us to avoid disease?

To take an even wider view of the spiritual implications, one can argue that we are trying to play God by using science at this level…that we are in effect trying to control our universe by becoming attached or fixated on the state of our impermanent physical bodies rather than using that energy to grow and strengthen our eternal souls.

“It is said that the soul is invisible, inconceivable and immutable. Knowing this, you should not grieve for the body.” Bhagavad Gita, Chapter 2, Text 24 “All created beings are unmanifest in their beginning, manifest in their interim state, and unmanifest again when annihilated. So what need is there for lamentation?” Bhagavad Gita, Chapter 2, Text 28


As an herbalist and budding nutritionist, I anticipate clients coming to me with genetic test results seeking guidance on how to proceed naturally. While I believe that this information could be useful as a practitioner, I have concerns that it could narrow a person’s overall focus for wellness in their life to a molecular level to avoid activation of specific genes with the hopes that their lives will be better and worry-free. It is my goal to use these labs in a way that will help clients to see the bigger picture in life…the connection through the mind, body, spirit component while also helping them to successfully thrive in their lives through nutrition and conscious living.


23andMe Genetic Testing. (accessed 8/28/13).
Atwood, M. Oryx and Crake. (2003) Random House, New York, NY.
Bancroft, K. Genetic testing for cancer predisposition and implications for nursing practice. (2010) Journal of Advanced Nursing, Jan. 16, 2010.
Ducournau, P., Gourraud, P., Rial-Sebbag, E., Cambon-Tomsen, A., Bulle, A. Direct-to-consumer health genetic testing services: What commercial strategies for which socio-ethical issues? (2013) Healthy Sociology Review. (2013) 22(1): 75-87.
Federal Trade Commission. (accessed 8/28/13)
Swami Prabhupada, AC. Bhagavad Gita (as it is). (1983) The Bhaktivedanta Book Trust, Los Angeles, CA.
Sweeney, K. , Legg, A. Predictors of interest in direct-to-consumer genetic testing. (2011) Psychology and Health. Vol. 26, No. 10, October 2011, 1259-1272.
Wolff, K., Nordin, K., Brun, W., Berglund, G., Kvale, G. Affective and cognitive attitudes, uncertainty avoidance and intention to obtain genetic testing. Psychology and Health. Vol. 26, No. 9, September 2011, 1143-1155.

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