Dear Editor,
Genetic testing has become the standard of care in movement disorder practice, but gaps exist regarding the knowledge, attitudes and perceptions among patients, their caregivers and health care workers (HCWs), thus impacting testing practices [
1]. We therefore conducted a prospective study on a cohort of Indian patients with movement disorders, caregivers and HCWs to determine their knowledge, attitudes and practices with respect to genetic testing.
This study was conducted prospectively at the National Institute of Mental Health and Neuro Sciences (NIMHANS), India, over a duration of 10 months (September 2022 to June 2023). The structured questionnaires were derived from previous studies and modified for the local population wherever suitable [
2-
9]. After approval was obtained from the National Institute of Mental Health and Neurosciences Ethics Committee, these questionnaires were applied in an interview format during genetic counseling of patients and caregivers and as self-recorded electronic responses (Google Forms) from HCWs. Details on the inclusion of participants and the flow of the study are shown in
Supplementary Figures 1 and
2 (in the online-only Data Supplement). Notably, patients and caregivers were subjected to additional cognitive testing and subsequently responded to uniform questions. HCWs were asked to identify their role and frequency of testing in the past 6 months, after which the questionnaire was dichotomized (
Supplementary Figure 2 in the online-only Data Supplement). The questionnaire for patients and caregivers included questions from sections on the basics of genetics, inheritance of disease traits and genetic testing availability and process (
Supplementary Figure 3 in the online-only Data Supplement). The basics of genetics were assessed using the following items: “Gene controls hereditary characteristics” (True), “Gene is visible to the naked eye” (False) and “Genes come in pairs, both from the mother” (False). Similarly, three items from the inheritance section were used: “Parents with genetic disease always have affected children” (False), “Healthy parents can have diseased child” (True) and “Carriers of mutations may appear healthy” (True). Knowledge regarding testing was assessed using the following items: “Genetic test is available on paid basis” (True), “Genetic testing is costly, can only be done by research institutes” (False), “Genetic test can predict risk in asymptomatic family members” (True) and “Genetic test always needs a sample of the affected tissue” (False). Similarly, the questions for HCWs were also categorized to assess the basics of genetics, inheritance of disease traits and genetic testing; the items were suitably amended for persons with health care knowledge (
Supplementary Figure 4 in the online-only Data Supplement).
A total of 30 patients, 33 caregivers and 80 HCWs were recruited (
Table 1 and
Supplementary Table 1 in the online-only Data Supplement). The average total knowledge scores of patients and caregivers were 6.0 and 7.6 out of 10, respectively. A knowledge score of 6 or greater (>50%) was obtained for 77.7% of the patients and caregivers (
Table 1). Our findings were higher than those of previous studies in Caucasian populations in which participants with knowledge scores greater than 50% ranged from 30.3% to 58.3% [
2,
9]. Most questions related to the basics of genetics and genetic basis of the disease (
Supplementary Figure 3 in the online-only Data Supplement) were answered correctly (70.1%); this rate was comparable to those of previous studies [
3,
4,
7,
10]. Questions relating to the costs and procedures involved in genetic testing had the lowest rate of correct answers (55.9%). This could be because next-generation sequencing is a recently developed and less publicized technology; hence, patients and caregivers may be less knowledgeable about this technique.
The knowledge scores of patients and caregivers were positively influenced by earlier age at onset (
U = 226.5,
p = 0.017), higher education (
U = 307,
p = 0.021), higher Montreal Cognitive Assessment (MoCA) scores (
rs = 0.29,
p = 0.02), and physician as a source of information (
U = 335,
p = 0.027) (
Supplementary Table 2 in the online-only Data Supplement). While the former have been previously discussed as potential modifiers of knowledge, our study is the first to consider the role of the source of information and find a significant association [
2,
6].
Over three-fourths of the participants (82.8%) expressed interest in further learning about the genetic basis of the disease, which was positively linked with higher knowledge scores (Spearman correlation,
rs = 0.3,
p = 0.014). A total of 61 patients and caregivers were willing to undergo genetic testing. Prevention of disease in the next generation (
n = 53, 86.9%) was the most frequent reason for willingness for genetic testing. Among those who agreed to genetic testing, subjects who agreed to treatment and research for disease prevention in the future were more likely to have physicians, the internet and/or media as the source of information. Subjects with higher MoCA scores were more likely to agree to genetic testing, hoping for some treatment. The total knowledge score was more likely to be higher for those who agreed that the patients hoped to prevent the disease in their family (
Supplementary Table 2 in the online-only Data Supplement). Several Caucasian studies have also noted similar findings in various phenotypes of movement disorders, including Parkinson’s disease (PD) and tremor [
2,
6,
9-
11].
Approximately 87.9% of HCWs reverted to the electronically mailed questionnaire. The knowledge score of the HCWs was 10.19 out of 11. HCW attitudes were influenced by the frequency with which patients were cared for in the last 6 months (
p = 0.008) and their own perception of their genetic knowledge (
p = 0.018). A commonly cited reason for advising genetic testing was to assist in prognostication and prenatal counseling (98.2%) (
Supplementary Figure 4 in the online-only Data Supplement). The most common theme surrounding negative attitudes toward testing was the perception that the patient may not be able to afford the test, followed by low confidence in the yield of the current testing methods (
Supplementary Figure 4 in the online-only Data Supplement). In fact, in a previous study by Salm et al. [
12], confidence in the testing methodology significantly impacted the frequency of testing. The participants’ professional subgroup and their individual or total knowledge scores did not influence their attitude toward genetic testing. More than 50% of the participants were confident in ordering the genetic test and were able to interpret and convey the results. The majority of HCWs (95%) were interested in enrolling their patients for research-based testing. However, a trend favoring any of the movement disorders could not be identified when they were asked the condition(s) for which they would want research-based testing as a priority (
Supplementary Figure 5 in the online-only Data Supplement).
In conclusion, Indian patients with movement disorders, their caregivers and HCWs are moderately informed regarding the genetic basis of disease and largely have positive attitudes during genetic testing. However, these findings have to be taken cautiously because this was a preliminary study with a limited number of participants over a short duration of time. A bias toward positive attitudes may have occurred as a result of convenience sampling of patients and caregivers at a referral center. A similar bias may exist in the knowledge and attitudes of HCWs. The effect of specific movement disorders on knowledge or attitudes could not be discerned, as a large majority of our cohort included patients with PD.
Notes
-
Ethics Statement
The study was approved by the National Institute of Mental Health and Neurosciences Ethics Committee (NIMH/DO/IEC/(BS&NS DIV)/2022) and the written informed consent from the study subjects was obtained before enrolling for the study.
Supplementary Materials
Supplementary Table 2.
Factors influencing knowledge scores and a positive attitude towards a genetic testing in patients and caregivers combined
jmd-24034-Supplementary-Table-2.pdf
Supplementary Figure 3.
Comparison of correct knowledge responses and reason for a positive attitude in patients and their caregivers on individual responses. A total of 61 subjects (29 patients and 32 caregivers) were willing to get a genetic testing. The reason for not willing for the genetic testing in one patient and his one caregiver was that the patient believed the test may not help in the treatment and wanted to avoid being upset and the guilt whereas the reason in the caregiver for not willing for the genetic testing was that the test may not help in the treatment. The values are in percentages. **p < 0.01.
jmd-24034-Supplementary-Fig-3.pdf
Supplementary Figure 4.
Phenomenology based prioritization for the genetic testing by the health care workers. Ataxia, dystonia or combination of movement disorders (around 20% each) were of the highest priority (Priority-1) when advising genetic testing on research basis as per the respondents. Tremor was least prioritised (Priority-7) movement disorder as per more than 40% of the respondents.
jmd-24034-Supplementary-Fig-4.pdf
Supplementary Figure 5.
Comparison of correct knowledge scores and attitudes of movement disorder (MD) specialists, neurology trainees and nursing specialties. The various reasons for a positive attitude and a negative attitude in ordering a genetic testing are also depicted. Statistical analysis was performed only between the neurology trainee group (n = 64) and the nursing specialties group (n = 12) as the number in movement disorders specialists’ group was small (n = 5). The various reasons for a positive attitude (neurology trainee = 45 and nursing specialties = 7) and a negative attitude (neurology trainee = 19 and nursing specialties = 5) in ordering a genetic testing are also depicted. The values are in percentages. *p < 0.05; **p < 0.01.
jmd-24034-Supplementary-Fig-5.pdf
Notes
-
Conflicts of Interest
The authors have no financial conflicts of interest.
-
Funding Statement
None
-
Author Contributions
Conceptualization: Sneha D. Kamath, Vikram V. Holla, Pramod Kumar Pal. Data curation: Sneha D. Kamath, Vikram V. Holla. Formal analysis: Sneha D. Kamath, Vikram V. Holla. Investigation: Sneha D. Kamath, Vikram V. Holla. Methodology: Sneha D. Kamath, Vikram V. Holla, Pramod Kumar Pal. Project administration: Sneha D. Kamath, Vikram V. Holla. Resources: Sneha D. Kamath, Vikram V. Holla. Supervision: Nitish Kamble, Rohan R. Mahale, Ravi Yadav, Pramod Kumar Pal. Validation: Ravi Yadav, Pramod Kumar Pal. Visualization: Vikram V. Holla, Pramod Kumar Pal. Writing— original draft: Sneha D. Kamath. Writing—review & editing: Vikram V. Holla, Nitish Kamble, Rohan R. Mahale, Ravi Yadav, Pramod Kumar Pal.
Acknowledgments
None
Table 1.Characteristics of patient and caregiver cohort
Variables |
Patients (n = 30) |
Caregivers (n = 33) |
Total (n = 63) |
Age (yr) |
47.2 ± 13.2 |
43.1 ± 12.7 |
45.1 ± 13.1 |
Gender (male:female) |
1.14 |
1.54 |
1.33 |
Educational qualification |
|
|
|
Illiterate |
1 (3.2) |
1 (3.0) |
2 (3.2) |
Upto secondary/high school |
3 (9.7) |
0 |
3 (4.8) |
Completed schooling |
12 (38.7) |
8 (24.2) |
20 (31.7) |
Graduation/post-graduation |
15 (48.4) |
24 (72.7) |
29 (46.0) |
Family history |
15 (48.4) |
15 (45.5) |
30 (47.6) |
Diagnosis-clinical |
|
|
|
Ataxia |
1 (3.3) |
1 (3.0) |
2 (3.2) |
Chorea |
2 (6.7) |
2 (6.1) |
4 (6.3) |
Dystonia |
1 (3.3) |
2 (6.1) |
3 (4.8) |
Parkinson’s disease |
24 (80.0) |
26 (78.8) |
50 (79.4) |
Tremor |
2 (6.7) |
1 (3.0) |
3 (4.8) |
Mixed movement disorder |
1 (3.3) |
1 (3.0) |
2 (3.2) |
Knowledge scores |
|
|
|
Out of 10 |
6.0 ± 2.3 |
7.6 ± 1.7 |
6.9 ± 2.2 |
Score more than 5/10 |
22 (73.3) |
27 (81.8) |
49 (77.7) |
Self-assessed as moderate to highly knowledgeable |
17 (56.7) |
26 (78.8) |
43 (68.3) |
Reported source of information |
|
|
|
Physician |
14 (45.2) |
15 (45.5) |
29 (46.0) |
Internet |
13 (41.9) |
15 (45.5) |
28 (44.4) |
Media |
11 (35.5) |
10 (30.3) |
21 (33.3) |
Relatives |
9 (29.0) |
8 (24.2) |
17 (27.0) |
REFERENCES
- 1. Kamath SD, Holla VV, Kamble N, Yadav R, Pal PK. Genetic literacy and attitude towards genetic testing in patients with Parkinson’s disease and their caregivers: a review of literature. Parkinsonism Relat Disord 2023;117:105853.ArticlePubMed
- 2. Tan EK, Lee J, Hunter C, Shinawi L, Fook-Chong S, Jankovic J. Comparing knowledge and attitudes towards genetic testing in Parkinson’s disease in an American and Asian population. J Neurol Sci 2007;252:113–120.ArticlePubMed
- 3. Falcone DC, Wood EM, Xie SX, Siderowf A, Van Deerlin VM. Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest. J Genet Couns 2011;20:384–395.ArticlePubMedPMC
- 4. Sakanaka K, Waters CH, Levy OA, Louis ED, Chung WK, Marder KS, et al. Knowledge of and interest in genetic results among Parkinson disease patients and caregivers. J Genet Couns 2014;23:114–120.ArticlePubMedPMC
- 5. Scuffham TM, McInerny-Leo A, Ng SK, Mellick G. Knowledge and attitudes towards genetic testing in those affected with Parkinson’s disease. J Community Genet 2014;5:167–177.ArticlePubMedPMCPDF
- 6. Gupte M, Alcalay RN, Mejia-Santana H, Raymond D, Saunders-Pullman R, Roos E, et al. Interest in genetic testing in Ashkenazi Jewish Parkinson’s disease patients and their unaffected relatives. J Genet Couns 2015;24:238–246.ArticlePubMedPMC
- 7. Maloney KA, Alaeddin DS, von Coelln R, Dixon S, Shulman LM, Schrader K, et al. Parkinson’s disease: patients’ knowledge, attitudes, and interest in genetic counseling. J Genet Couns 2018;27:1200–1209.ArticlePubMedPDF
- 8. Alcalay RN, Kehoe C, Shorr E, Battista R, Hall A, Simuni T, et al. Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists. Genet Med 2020;22:574–580.ArticlePubMedPMCPDF
- 9. Fraint A, Ouyang B, Metman LV, Jones C, Hall DA, Marder K, et al. Patient knowledge and attitudes towards genetic testing in Parkinson’s disease subjects with deep brain stimulation. Parkinsons Dis 2019;2019:3494609.ArticlePubMedPMCPDF
- 10. Hackl M, Cook L, Wetherill L, Walsh LE, Delk P, De León R, et al. Readiness for Parkinson’s disease genetic testing and counseling in patients and their relatives in urban settings in the Dominican Republic. NPJ Parkinsons Dis 2023;9:126.ArticlePubMedPMCPDF
- 11. Naranjo KV, Park J, Chen KP, Hernandez N, Clark LN, Ottman R, et al. Genetic testing preferences of individuals in families with essential tremor. Tremor Other Hyperkinet Mov (N Y) 2018;8:545.ArticlePubMedPMC
- 12. Salm M, Abbate K, Appelbaum P, Ottman R, Chung W, Marder K, et al. Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training. J Genet Couns 2014;23:156–163.ArticlePubMedPMC
Citations
Citations to this article as recorded by
