Advanced Diagnostic Procedures: The Individual Impact of Genetic Diagnosis

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Table of Contents

Introduction
Genetic testing
Individual impact of genetic diagnosis
Implications for Genetic Counseling
Conclusion
References

Introduction

Over the second half of the 20th century, there have been great scientific breakthroughs and inventions in the medical field. These breakthroughs have resulted in the creation of sophisticated medical equipment and advanced diagnostic procedures. One of the more novel advances has been in the form of genetic testing which is the ability to determine the presence of a genetic marker for a specific disease or condition.

This testing is especially significant in light of research findings which estimate that 1 in every 20 newborns in America are born with a severe disorder that is presumed to be genetic in origin (Pillitteri, 2009). Genetic diagnosis therefore gives people the means with which to forecast the presence of or susceptibility to some diseases.

This knowledge of a genetic mishap in advance gives a person the opportunity to take up preventive measures to counter the disease if it is possible. However, genetic diagnosis has an inescapable effect on the individual and in some cases his family as well.

This paper will set out to detail the impact that genetic diagnosis can have on the individual. The paper will highlight the positive as well as negative effects that genetic testing may result in. The implications that this impacts can have on genetic counseling shall also be considered so as to highlight the significance of counseling in genetic diagnosis.

Genetic testing

The World Health Organization (2005) defines Genetic Testing as “DNA analysis to determine the carrier status of an individual; to diagnose a present disease in the individual; or to determine the individual’s genetic predisposition to developing a particular condition in the future.”

The use of genetic testing for diagnosis purpose is increasing at a high rate as a result of the novel possibilities that genetic testing holds for clinical care. Lerman and Shields (2004, p.225) advance that it is anticipated that genetic testing can eventually allow health care providers to positively identify individuals who will develop certain types of sicknesses and therefore allow them to tailor preventive care based on a person’s genotype.

In addition to this, the number of inherited disorders and risk factors that can be detected through genetic testing increases rapidly as more research on the subject is carried out. The impacts of genetic testing are therefore likely to be felt by an even larger section of the population.

Individual impact of genetic diagnosis

Positive Impacts

Genetic testing may result in reduced anxiety for the individual and provides information necessary to make sound decisions. Decisions such as not to have babies, preventive care or abortions can be made based on test results. Many couples have fears as to whether their children may have some inheritable disease which would render them disabled in some way.

A study by Claes et al. (2004) showed that some of the motives for people wanting predictive genetic testing were so as to clarify the risks for their children. Genetic testing (prenatal testing) can help ease the heart and mind of such people by giving them information as to the likelihood of their baby suffering from any gene disorder (Boskey, 2007).

From the results, the woman can decided to terminate a pregnancy or even not have babies at all. Genetic testing therefore removes the anxiety that the person would feel from not knowing about the health prospects of their baby should they decide to have one.

Genetic diagnosis can provide knowledge of a genetic risk. This information may result in the behavioural change by the individual. The behavioural change is brought about by the revelation of higher susceptibility to the specific condition by the individual.

Heshka et al. (2008, p.24) reveals that following disclosure of genetic test results for hereditary breast and ovarian cancer, mammography screening rates over the next year increased significantly. While the increased screening rates for all tested people, mammography use was higher in carriers than in non-carriers.

Other patients on being made aware of the presence of diseases take up action to manage their conditions. Some individuals go as far as attain technical knowledge on their conditions so as to increase their competence in treating themselves (Petersen 2006, p.37).

Genetic diagnosis may influence the lifestyle choices of the individual. Some diseases may come about as a result of the lifestyle choices of the individual. These diseases such as lung cancer can therefore be avoided through change in lifestyle.

The ability of genetic susceptibility testing to impact positive on behavioural changes in individual are confirmed by Sandeson et al. (2008) research which revealed that smokers were more motivated to quit smoking following genetic testing results which placed them at high risk of having lung cancer.

The reason for this was because the smoker who believed that they were genetically susceptible to a smoking related disease had a stronger motivation to quit smoking. Lifestyle-related genetic susceptibility tests may therefore have a positive impact on the life of an individual since they provide an incentive to lead a healthier lifestyle.

Genetic testing can give explicit information therefore preventing the stress that comes from unconfirmed suspicions. In some instances, the people who elect to undergo genetic diagnosis have some evidence of the disease in question. For these individuals, the distress levels are considerably decreased as a result of obtaining conclusive test results.

This decreased or normal distress level is as a result of a high sense of control over the disease once someone is made aware of its presence. A research by Horowitz et al. 2001, p.191) revealed that most of the people who elected to be tested for HD already had symptoms of the disease even though they may not be aware of their carrier status.

These findings are corroborated by Kasparian et al. (2006) who reveal that at least 33% of the participants in genetic screening research expected to be carriers of a mutated gene. The suspicions that an individual harbors about him being afflicted by a disease produced considerable stress.

Research carried out by Horowitz et al (2001) on the impact of news of genetic risk for Huntington Disease indicated that individuals who leaned that they were carriers exhibited less psychological distress over time compared to the at-risk group who did not get tested.

Individuals who exhibit neurological impairment without knowing that they already have the disease may be prone to depression and an increased risk of harming themselves. Having their condition confirmed through genetic diagnosis makes it possible for clinical staff at genetic counseling and testing centers to offer them the help they need to alleviate this situation.

Negative Effects

As a result of carrier testing which identifies inherited gene mutations, the carrier can be subjected to social stigmatization. Unlike some conditions like HIV/AIDS which have visible symptoms, genetic conditions have few symptoms. Petersen (2006, p.22) notes that genetic conditions are only potentially stigmatizing if people are made aware of their presence through genetic testing.

Lernam et al. (2003) documents that in a quantitative study examining adult’s experience with carrier testing, results indicates that while both carriers and non-carriers did not exhibit any negative self image as a result of the diagnosis, non-carriers developed a negative attitude to the carrier status.

While the carriers initially did not exhibit any negative attitude to their status, stigmatization may have negative implementation. It may result in anxiety and an inferior social status, all of which are unhealthy for the individual’s psychological well being.

This psychological distress is sometimes unnecessary since the presence of markers showing genetic alteration might only indicate susceptibility for a certain disease and not the certainty of the disease.

Testing may result in worry and apprehension therefore diminishing the quality of a person’s life. A major characteristic of the information obtained from genetic testing is that it is highly probabilistic and there exist levels of uncertainty. For example, Predictive genetic testing “offers the opportunity to identify whether an asymptomatic person has inherited a genetic predisposition ” (Claes et al 2004, p.264).

As such, even when one obtains positive test results for the Huntington Disease gene, there is no information on when the disease will occur. For diseases such as cancer and cutaneous malignant melanomagenetic, genetic testing only indicates a hereditary predisposition to the diseases and not whether the disease will in fact occur to the person.

Genetic testing might result in worry by the individual who has positive results. This worry affects a person’s life since they do not know the time when the disease will afflict them.

Paranoia and unnecessary fear may result from genetic test results. This is especially the case when carrier testing is undertaken. Carrier testing is a type of genetic test performed for sex linked disorders so as to identify if a person is a carrier of a gene mutation. A positive result indicates that one has a carrier status which indicates their predisposition to certain conditions.

Positive results can cause worry to the individual and this may translate to paranoia about the disease risk. Research by Kasparian et al. (2006) on the psychological responses to genetic testing for melanoma indicated that some of the participants exhibited an increased sun-safe behaviour. The participants also had a desire to impose the said model sun safe behaviours on their children and relatives as well.

Guilt is another significant effect that genetic diagnosis can have on an individual. This is because unlike other diagnosis, a genetic diagnosis may has implications for an individual’s entire family. Petersen (2006, p.41) notes that the unique challenges on people with genetic conditions arises from the knowledge that they have conditions that they can pass on to others.

The impacts of genetic testing therefore go far beyond the individual who is having the test. A mother who has received positive results for Fibrosis may feel guilty about transmitting the same to her daughters. The same mother may feel guilty about being a career for a genetic disorder which later affects her children.

Unlike other diagnoses which are followed by curative measures, many of the genetic tests that are carried out do not clearly promote treatment and cure of the condition. The results from genetic diagnosis have been known to result in increased anxiety levels as well as suicidal tendencies in some people.

This is because some of the results of genetic testing can indicate the presence of incurable diseases that a person had no idea or beforehand. Genetic diagnosis can therefore result in feelings of hopelessness when the person is diagnosed to be a carrier of some mutated gene (Lernam et al.2003, p.790).

While research does indicate that patients have a higher anxiety and depression levels before genetic testing, this does not discount the presence of a small number of patients who exhibit high levels of stress and disturbance after the results of the genetic testing.

Implications for Genetic Counseling

Claes et al. (2004, 165) states that DNA-tests hold a possibility of adverse psychological effects such as “increased anxiety, feelings of guilt and remaining uncertainty about the future health status”. These adverse effects occur regardless of whether one is diagnosed. As such, the importance of counseling both before and after genetic diagnosis cannot be overstated.

Genetic counseling is defined as “the provision of accurate, full, and unbiased information in a caring, professional relationship that offers guidance, but allows individuals and families to come to their own decisions” (Sharper and Carter 4).

Before the genetic testing, counseling serves the purpose of enabling the individual to make an informed choice based on information about the genetic test and its risks. The individual must be made to look at the positive impacts of genetic screening with the negative impacts in mind.

Another consideration to be made by the counselor is the impact that genetic testing has on others. As has been stated herein, the genetic test results may have significant impact on the individual’s family. For genetic conditions, the patient ceases to be an individual but the whole family and as such, it is important for the individuals experience to be looked at within the family and community context.

Halbert (2004, p.136) asserts that with this in mind, the risks to family members should be emphasized by the counselor during the pre-test sessions. With this in mind, genetic counselor can be structured so as to minimize the negative effects of genetic testing hence letting the individual optimally enjoy the benefits of the test.

Conclusion

The increase in the perceived gains of genetic testing have resulted in it being considered as an essential part of the health care system and future prospects are that it will be a fundamental component in medicine. The adverse effects that may arise from genetic diagnosis are considered to be a risk when one chooses to be tested.

This paper set out to articulate the various impacts that an individual may have as a result of genetic testing. From the discussions presented, it can be seen that there exist significant risks associated with the practice e.g. psychological distress. This negative factors if not well managed may result in a reduction in the quality of life for the individual.

Measures such as pre and post-test counseling which can reduce the negative effects should therefore be employed. From this paper, it can be authoritatively stated that any genetic testing should be preceded and followed by appropriate counseling services for the individual(s) affected.

References

Boskey, E 2007, America Debates Genetic DNA Testing, New York: The Rosen Publishing Group.

Claes, E Denayer, L Evers-Kiebooms, G Boogaerts, A & Legius, E 2004, “Predictive testing for hereditary non-polyposis colorectal cancer: motivation, illness representations and short-term psychological impact”, Patient Education and Counseling 55 (2004) 265–274.

Halbert, CH 2004, “Decisions and outcomes of genetic testing for inherited breast cancer risk”, Annals of Oncology 15 (Supplement 1): i35–i39.

Heshka, JT Palleschi, C Howley, H Wilson, B & Wells, PS 2008, “A systematic review of perceived risks, psychological and behavioural impacts of genetic testing”, Genetics In Medicine, Vol. 10, No. 1.

Horowitz, MJ Field, NP Zanko, A Donnelly, EF Epstein, C & Longo, F 2001, “Psychological Impact of News of Genetic Risk for Huntington Disease”, American Journal of Medical Genetics 103:188±192.

Lernam, C Croyle, RT Tercyak, KP & Hamann, H 2003, “Genetic Testing: Psychological Aspects and Implications”, Journal of Consulting and Clinical Psychology, Vol. 70, No. 3, 784–797.

Lerman, C & Shields, A 2004, “Genetic testing for cancer susceptibility: the promise and the pitfalls”, Nature Reviews, Vol 4.

Kasparian, NA Meiser, B Butow, PN Soamse, RF & Mann, JG 2006, “Better the Devil You Know? High-Risk Individuals’ Anticipated Psychological Responses to Genetic Testing for Melanoma Susceptibility”, Journal of Genetic Counseling, Vol. 15, No. 6, December 2006.

Petersen, A 2006, “The best experts: The narratives of those who have a genetic condition”, Social Science & Medicine 63 (2006) 32–42.

Pillitteri, A. 2009, Maternal and Child Health Nursing: Care of the Childbearing and Childrearing Family, USA: Lippincott Williams & Wilkins.

Sandeson, SC Humphries, ES Hubbart, C Jarvis, JM & Wardle, J 2008, “Psychological and Behavioural Impact of Genetic Testing Smokers for Lung Cancer Risk: A Phase II Exploratory trial” Journal of Health Psychology 2008 13: 481.

Sharpe, NF & Carter, RF 2006, Genetic testing: care, consent, and liability, John Wiley and Sons.

WHO 2005, Genetics, genomics and the patenting of DNA Review of potential implications for health in developing countries <https://www.who.int/genomics/FullReport.pdf>

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