Does the Knowledge an Individual has on the Benefits of Genetic Testing Correlate to their Utilization of Genetic Testing?



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Author: Autumn Randles

Peer Reviewer:

Professional Reviewer: Sarah Mantia, M.S., CGC



The purpose of this study was to determine if the knowledge an individual has on the benefits of genetic testing correlates to their utilization of genetic testing.  Data was collected through a correlation analysis in which a survey study was completed.  Participants included individuals age 13 and above, of various demographics and education backgrounds.  Results demonstrated that increased knowledge about genetic testing correlates to increased utilization of testing (P=0.003).  Level of education shared a strong correlation to knowledge of genetic testing (P=0.00152). Respondents working in the medical profession showed greater knowledge (P=0.0048).  Respondents 20–37 years old had the highest score by age group.  Overall mean knowledge score of 48% demonstrates respondents have little knowledge on the benefits of genetic testing. The conclusion can be made that increased education is needed on the benefits of genetic testing to increase participation in genetic testing.



Every human has approximately 20,000 genes making them a unique individual. These genes code for every part of the human body including eye color and hair color and can contribute to one’s risk for diseases. In recent years scientists have been discovering more about human genes and the multitude of things they are responsible for.  As more is being learned from human genes, genetic tests have become increasingly available and increasingly popular.  There are many different kinds of genetic testing, each with different focuses and purposes.  Medical genetic testing is the most reliable and accurate.  Results from these tests can lead to significant health benefits for people.  These tests may allow patients to find out if they have any genetic predispositions to a specific disease.  However, due to current advertising by genetic companies, many people have the inaccurate perception that genetic testing is sending some saliva off to a company and then receiving interesting information about one’s ancestry and ethnic background.  This type of genetic test is known as direct to consumer genetic tests.   Direct to consumer genetic tests such as 23andMe, only test a small fraction of gene variants that contribute to certain diseases, which often makes medical results of these tests misleading (Artin, 2019). Due to the vast amount of genetic material in a human body, certified medical genetic tests are needed to yield the most accurate results.  There are various types of medical genetic testing each with a different focus, such as newborn screening, diagnostic testing, carrier testing, parental testing, preimplantation testing, pharmacogenomics, predictive and pre-symptomatic testing, and forensic testing (Genetics Home Reference, 2019; NIH, 2020).  Preventative medicine has the potential to decrease suffering and risk of death from chronic diseases (Cskopecce, 2018).  In order to effectively implement preventative medicine, patients need to be informed about their genetic predispositions.  Genetic testing can assist in identifying these disease predispositions. However, medical genetic testing is a relatively new field of study, and there is a significant lack of utilization of genetic testing (Frieden,2018).  This study sought to assess if knowledge of the benefits of genetic testing increased utilization of testing.


Literature Review

Genetic testing allows some people at high risk for common types of cancer, such as colon cancer and breast cancer to take preventative measures to avoid suffering from these diseases (Waltz et al., 2018). Although some people can benefit from preventative medicine, there are not preventative measures that can be taken for all diseases tested by genetic testing. Some diseases that people are informed about through genetic testing, do not have any preventative measures or treatments available, an example of this is Huntington disease; this has caused some individuals to refrain from receiving genetic testing (Anderson et al., 2019).  Alzheimer’s is another common disease that has yet to have preventative treatment options. This brings up an ethical debate that causes some individuals to choose to refrain from genetic testing. 

When preventative medicine is available for a disease, genetic testing can lead to significant health benefits (AMA, 2019).  According to a poll administered by Harvard University on genetic testing, a very small percentage of people actually receive genetic testing. “Only 6 percent of adults say they have undergone genetic testing. Of that group, 35 percent were driven by concerns about their future children’s health problems, 25 percent by a desire to learn more about their heritage or family history, and 18 percent by concerns about their own future health problems” (Begley, 2016).  The lack of participation in genetic testing by the public is greatly due to the expense and lack of availability of genetic tests.  In addition, some refrain from testing due to concern for potential genetic discrimination. (Bélisle-Pipon, 2019) Also, some individuals feel it is not worth taking the risk of being informed about a possible disease they may be prone to because there may not be any preventative medicine or preventative steps available (Begley, 2016). 

Limited research has been done to test the public’s knowledge of the benefits of genetic testing.  In one study patients were surveyed about their knowledge and attitudes of the role of genetic testing in Parkinson’s disease.  It was found that patients had little knowledge about the implications of genetic testing (Fraint et al., 2019).  Also, researchers have compared knowledge and understanding of genetics between males and females. In a cross-sectional survey study, it was concluded that there was a detectable difference of 14% in the overall knowledge of genetics and perceived need for genetic testing between males and females, revealing that females have more knowledge in general on genetics than males (Adejumo & Olaoye, 2018). Although knowledge of genetics has been studied and the correlation between genetic testing and health benefits has been researched, the relationship between one’s knowledge and understanding of the benefits of genetic tests and their participation in receiving genetic testing has not been researched. 


A survey study was conducted to determine if a correlation exists between an individual’s knowledge of the benefits of genetic testing and the individual’s participation in genetic testing.  The researcher sought to assess the knowledge of the benefits of genetic testing and the participation in genetic testing of the average American citizen.  Therefore, participants with varying demographics and ages were tested.  The survey consisted of demographic questions that included age, gender, ethnicity and highest level of education (Table 1). The researcher sought to ensure individuals with various educational backgrounds completed this survey.  Participants were given the option to select “prefer not to say” on all demographic questions.

The researcher used Microsoft forms to gather results using the 17-question anonymous survey.  The survey was sent out electronically through email and social media to people of various ages.  In addition to questions about the demographics, questions about respondent’s participation in genetic testing and a set of ten knowledge-based questions were included in the survey (Table 1). 

Table 1. Survey Questions

1. What is your age?
A. 13-19 years old
B. 20-37 years old
C. 38-52 years old
D. 53 years and older
2. What is your gender?
A. Male
B. Female
C. Prefer not to say
3. What is the highest level of education you have completed?
A. Middle School
B. High School
C. Some College
D. Associates degree
E.Bachelor’s degree
F. Doctorate/ PHD
G. prefer not to say
4. Do you work in the medical field?
A. Yes
B. No
C. Prefer not to say
5. Have you ever received genetic testing?
A. Yes
B. No
C. Prefer not to say
6. If yes to question 5, what type?

A. Direct to consumer genetic test (for example ancestory. com, 23andMe, or any other genetic test purchased without the involvement of a medical professional)
B. Medical genetic test from a medical professional or medical institute
C. Both
D. Neither


Knowledge and Utilization of Genetic Testing 
7. Direct to consumer genetic testing (23andMe,, etc.) provides physicians with information that can be used for medical treatment?
A. True
B. Unsure
C. False*
8. Treatments are available for patients whose genetic test results show they have an inherited condition that causes high cholesterol
A. True* 
B. Unsure 
C. False
9. Genetic testing can be used to determine what medications would be most effective for that person
A. True* 
B. Unsure 
C. False
10. Genetic testing benefits people by manipulating their genetic material
A. True 
B. Unsure 
C. False*
11. Treatments are available for patients in whom a genetic test indicates they have a gene that increases the risk of Alzheimer’s
A. True 
B. Unsure 
C. False*
12. Preventative measures are available for people whose genetic testing indicate they are at risk for colon cancer
A. True* 
B. Unsure 
C. False
13. Preventative measures are available for people whose genetic testing indicate they are at risk for breast cancer?
A. True*
B. Unsure
C. False
14. Newborn genetic screening can prevent life threatening complications in babies
A. True*
B. Unsure
C. False
15. Genetic testing can be done on a patient’s cancer cells to determine the most appropriate cancer treatment
A. True*
B. Unsure
C. False
16. All genetic tests given by physicians can inform an individual about the potential risk involved with all their genes
A. True
B. Unsure
C. False*
17. How much knowledge or education do you feel you have received on genetic testing in school or in another form previous to taking this survey
A. None
B. Little to none
C. Some
D. A good amount 
E. A lot 
* Correct answers


The survey asked the respondents if they have received genetic testing, and if so was it medical genetic testing or direct to consumer genetic testing.  The researcher also included a brief definition of the differences between these types of genetic testing. The ten knowledge-based questions were each statements about possible benefits of genetic testing that were either true or false.  The respondent had the option to select true, false or unsure for each question.  Responses were categorized as correct or incorrect based on the answer the respondent chose.  If the respondent selected “unsure” the researcher categorized this as an incorrect response, because it displays the respondent did not have an understanding of the content being asked.  Each respondent would be given a score of 0 through 10 indicating the number of responses that individual answered correctly.  This score would be representative of that participant’s knowledge and understanding of the benefits of genetic testing. The accuracy of the respondent’s answers on the knowledge-based questions were compared to the individual’s previous participation in genetic testing, to determine if a correlation was present.  The last question on the survey asked respondents to assess the amount of education they felt they had received in school or in another form on the topic of genetic testing

The researcher compared the knowledge score of respondents who reported receiving genetic testing to the knowledge score of those who reported they had not received genetic testing. Statistical analysis was conducted using one tailed T test or ANOVA F test defining statistical significance (?) as P < 0.05. The differences in the average knowledge scores of these two groups were compared in order to identify a correlation between the respondent’s knowledge on the benefits of genetic testing and their participation in receiving genetic testing.  


Table 2.  Demographics of survey respondents 

Demographics of Survey Respondents (total 184)
Age Number of Respondents per age group
13-19 67
20-37 25
38-52 68
? 53 24
Level of Education Number of respondents who have completed level of education
Middle School 40
High School 30
Some College 20
Associate degree 10
Bachelor’s degree 67
Doctorate/ PHD 16
Prefer not to say 1

184 surveys were completed, of those respondents the average knowledge score was 5.763 for those who had received genetic testing, compared to 4.561 for those who had not received genetic testing (P = 0.003) (Figure 1). The overall mean knowledge score was 4.81. The level of education (Figure 3) a respondent had completed impacted the accuracy of their score on the knowledge-based questions (P = 0.001). Respondents 20–37 years old had the highest score by age group. The scores of those who reported working in the healthcare field (Figure 6) were higher than those who do not work in the healthcare field (P = 0.0048).  The difference in knowledge-based scores between males and females (Figure 7) narrowly missed statistical significance (P = 0.052).


Figure 1.
Higher knowledge score correlates to increased utilization of genetic testing.  Respondents reporting “Yes” (n=38), to receiving genetic testing (Q5) had higher mean knowledge scores (mean = 5.763; SD = 2.186) compared to those reporting “No” (n=146; mean = 4.561; SD = 2.432).  P=0.003, one-tailed two sample t-test, ?=0.05.  




Figure 2. Responses to “Have you ever received genetic testing?” Of 184 responses, 38 (21%) responded “Yes” and 146 (79%) responded “No.”

Figure 3. Knowledge score based on level of education. Significant difference among knowledge scores based on education level (p= 0.0015) ANOVA F test; ? = 0.05. Trend of higher knowledge score correlated with higher level of education.


Figure 4. Knowledge score based on age. (p=0.0505) ANOVA F- test; ? = 0.05.


Figure 5. Percent of correct responses to knowledge-based survey questions


Figure 6. Knowledge score of working in the medical field vs. not in medical field. Respondents answering “Yes” (mean 6.133, SD 2.047) to working in the medical field (Q4) had statistically significant higher mean scores (P=0.0048) than those answering “No” (mean 4.552, SD 2.417) Calculated with one-tailed two sample t-test. 


Figure 7. Knowledge score based on gender. Female knowledge scores were slightly higher (mean 4.992; SD 2.293) than male knowledge scores (mean 4.346; SD = 2.707); narrowly missing statistical significance (P=0.052). Calculated with one-tailed two sample t-test. 

Figure 8. Q17 “How much knowledge or education do you feel you have received on genetic testing in school or in another form previous to taking this survey?” The majority (95; 51.6%) of survey participants responded “little to none” to this question.


The results of this survey study supported the researcher’s hypothesis that a greater knowledge on the benefits of genetic testing correlated to increased utilization of genetic testing (P = 0.003). Everyone who had received genetic testing revealed at least some knowledge about the benefits of genetic testing as evidenced by no respondents that had received genetic testing scored a zero on the knowledge test. The mean knowledge score for participants who had received genetic testing was 5.763 this was statistically significant when compared to 4.561for participants not receiving testing. 

The average score respondents scored was shown to be affected by age and the highest level of education they had received. In general, the average knowledge score increased with higher level of education.  As displayed in figure 6, the researcher also asked participants if they worked in the medical field.  The survey results did show a statistical significance between the knowledge scores of medical professionals and non-medical professionals (P = 0.0048). However, the mean score on the knowledge test was only 63% for medical professionals. A possible explanation for this could be because medical genetics is a newer field, and it has not made its way into every area of health care yet.  The results from this survey highlight the need not only to educate the community about the benefits of genetic testing, but to better educate health professionals as well.  In an interview with Medical News, Reed Tuckson, M.D., the managing director of Tuckson Health Connections, states, “Training in medical school, even up until very recently, does not really prepare the modern physician to make use of (genetic) clinical information” (Frieden, 2018).

The researcher’s findings show that on average females showed a slightly greater knowledge than males on medical genetics although it narrowly missed statistical significance.  Many women receive prenatal screening during their pregnancy process.  Prenatal screening is a form of genetic testing, this could correlate to females in general being slightly more knowledgeable in the topic of the benefits of medical genetic testing (Mayo Clinic, 2018).  

As displayed in Figure 5, the researcher found that Question 7 and Question 11 had the lowest correct response rate (Table 1), both with less than 30% of the respondents answering the question correctly.  Question 7 stated, if “direct to consumer genetic testing (23andMe,, etc.) provides physicians with information that can be used for medical treatment.”  This is an incorrect statement because the information provided by direct to consumer genetic testing should be confirmed by a clinical diagnostic laboratory prior to medical treatment. This is due to the limited number of gene variants tested and the risk for false negatives and false positives with direct to consumer testing. (Artin et al., 2019; Tandy-Conner, 2018).  Approximately 65% of the respondents answered incorrectly by answering the question as true or unsure when the correct answer was false.  This demonstrates the participants have a lack of understanding of the differences in types of genetic testing.  Question 6 reveals that 31 of the 184 respondents had received direct to consumer testing, while only 10 had received medical genetic testing. Of the 31 respondents that had received direct to consumer genetic testing, 23 answered question 7 incorrectly.  

Question 11 also had a very low correct response rate; it asked if treatments are available for patients in whom a genetic test indicates they have a gene that increases the risk of Alzheimer’s.  This statement is false.  Currently there are no FDA-approved medical treatments proven to help prevent, delay, or lessen the symptoms of Alzheimer disease for patients who discover they may be susceptible to Alzheimer’s disease (Waltz et al., 2018). Less than 20% of respondents answered this question correctly. This reveals that the average person is not aware of the potential consequences that could be involved with receiving genetic information. In receiving genetic information, one runs the risk of finding they have a genetic predisposition to a disease for which there are no treatments or preventative measures available.  In some cases, finding out about an incurable terminal illness can lead to problems such as anxiety or depression (Egglestone et al., 2013). 

A limitation that should be taken into consideration in the analysis of these results is people who have received genetic testing may have more knowledge on the benefits because they have been through the process of receiving genetic testing.  Another researcher could further study this by giving a knowledge test to patients before and after they received genetic testing to see if there was a change in the extent of their knowledge.  Another limitation of this study was sample size, only 184 people responded to this survey. Additionally, the researcher was unable to monitor the respondents as they answered the knowledge-based questions.  Therefore, it is possible that some respondents received help in answering the questions or used the internet to aid them.  This could cause some knowledge scores to not be an accurate representation of the respondent’s knowledge.


Overall, the results of the researcher’s survey revealed that the general public has an overall limited understanding of the benefits of genetic testing and a limited participation in receiving genetic testing among all age groups.  The results showed the knowledge one has on genetic testing does correlate to utilization of genetic testing, revealing those who have a greater understanding of the benefits of genetic testing are more likely to have completed genetic testing.  This research reveals that change needs to be implemented in order to increase the public’s knowledge on the benefits of genetic testing which could lead to increased utilization of genetic testing and potentially improve health benefits.  Future research could be conducted on pilot education programs to determine what the most effective method is to educate the public on benefits of genetic testing.