A cross-sectional survey to assess the knowledge, attitude and practices regarding genetic disorders and testing among non-genetic clinicians of Armed Forces, India

doi:10.21203/rs.3.rs-4009149/v1

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A cross-sectional survey to assess the knowledge, attitude and practices regarding genetic disorders and testing among non-genetic clinicians of Armed Forces, India

https://doi.org/10.21203/rs.3.rs-4009149/v1

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Field of genetics is undergoing rapid advances, with availability of multiple genetic tests in clinical practice. Patients with genetic disorders are mostly attended by non-genetic clinicians. Sufficient knowledge about genetics amongst non-genetic clinicians is required for good clinical practice. The objective of this study was to assess the knowledge, attitude and practices regarding genetic disorders and testing among non genetic clinicians of Armed Forces, India. An online survey of non genetic clinicians of Indian Armed Forces was conducted followed by statistical analysis. Total 262 non-genetic clinicians took part in this survey. Most respondents are well aware of genetic disorders, need for genetic testing and counseling. However, non-geneticist clinicians find it difficult to choose appropriate genetic tests. Moreover, most of the respondents are not versed with advances in the field viz. next generation sequencing technologies etc. Similar to other regions worldwide, there exist a gap in knowledge of genetic disorders and testing amongst non genetic clinicians. The gap further hampers the best clinical practices.

Genetic Survey

Genetic disorders

Genetic testing

Genetic counseling

Non-geneticist clinicians

The field of genetics cuts across all medical sub-specialties. Cumulative prevalence of genetic disorders is sizeable in India because of large population size, ethnic diversity, high consanguinity & birth rate. Last few years have seen exponential transformation in the field of genetics and genetic testing. With addition of newer tests in the armamentarium like next generation sequencing (exome and genome sequencing) genetic testing has become a commonplace in medical practice (Adams et al. 2019) Medical geneticist have played key role in managing patients with genetic disorders. India is the second most populated country in the world. For a population of 1.4 billion, currently there are less than 100 trained geneticist and genetic counselors in India. There is dearth of clinical geneticist and genetic counselors. Indian Armed forces is further unique due to its panethnic population representing the country. First genetic centre in Indian Armed forces is being established and the subspeciality of medical genetics is in infantile stage. Similar to other places, in Indian armed forces also,most of the time patients with genetic disorders are seen by non geneticist. They play important role in deciding the type of genetic test, interpreting the results and referring patients to genetic centers, and communicating with patients about genetic issues. Their knowledge of genetics becomes an important part of good clinical practice. Sufficient knowledge about genetics and genetic tests amongst non-geneticist clinicians is essential as they are primary care providers and first contact.

We conducted a study among the non genetic clinicians to assess the genetic knowledge and awareness with other variables on comprehension and perception of genetic disorders and their diagnosis. In this report, we present data collected during the online survey characterizing participants' on the basis of genetic knowledge, attitudes and practices.

Study design

A cross sectional survey was conducted from 1st October to 15th October 2020. A self-administered questionnaire of 29 items was developed. Preliminary discussion with non-genetic clinicians helped in understanding the gaps in knowledge and practices, which came handy in formulation of questionnaire. Institutional ethical committee approved the study. The data were collected through Google forms by sharing the link electronically. Initial 6 questions were related to the personal details of the participants including their name, designation, affiliation, email address, mobile no., time & consent of participation. Twenty three questions were formulated to assess participant’s basic knowledge, attitude and practices towards genetic disorder & testing. These were in the form of multiple choice and image identification. Participant’s feedbacks were requested in the last question (Table 1).

Table 1

Survey questionnaire distributed to the non-genetic clinicians
No.	Questions	Question category
1	Name	Personal Details
2	Email Address	Personal Details
3	Hospital / Institutional Name	Personal Details
4	Designation	Personal Details
5	Mobile No.	Personal Details
6	Are you aware of genetic disorder and genetic testing?	Knowledge
7	Do you think pre and post test genetic counselling is necessary?	Knowledge
8	Rare Diseases are no rarer.	Knowledge
9	Are you aware of which genetic test to opt for and when?	Knowledge
10	Check the Genetic tests you are aware of	Knowledge
11	You being Clinicians, can you list common genetic conditions or disease you come across while treating your patients.	Knowledge
12	Do you think referring your patients to geneticist or genetic counsellor will help them to have better understanding?	Attitude
13	Would you like to learn more about genetic disorders and testing?	Attitude
14	Do you think Cumulative Prevalence of Genetic disorders is sizable in our country?	Attitude
15	Do you see Patients with Genetic disorders?	Knowledge
16	Do you think Patients with Genetic disorders are best managed by experts in this field i.e. Clinical/Medical Geneticist?	Attitude
17	How Often do you refer the patients with suspected genetic disorders to Clinical Geneticist/Genetic Counsellor?	Practices
18	Do you think that it’s important to get definite diagnosis in every patient?	Attitude
19	Not an indication of Karyotype	Knowledge
20	Chromosomal Microarray is the test of choice for?	Knowledge
21	Are you aware of first generation and next generation sequencing?	Knowledge
22	Do you find it difficult to consult a Clinical Geneticist/Genetic counsellor?	Practices
23	Identify the image	Knowledge
24	Identify the image	Knowledge
25	Identify the image	Knowledge
26	Identify the image	Knowledge
27	Do you think this survey will help to spread the awareness	Attitude
28	Do you think genetic awareness programme to be conducted at regular intervals of time to spread awareness?	Attitude
29	Please share our valuable feedback and comments for this survey.	Feedback

Statistical Analysis

Descriptive statistics was used to analyze the data using statistical software R (v 4.0.3) (Ihaka et al. 1996). A panel of one medical geneticist and genetic counselor was formed to determine the optimal answers for the questionnaire of published literature or consensus.

Participants

Total 262 non genetic clinicians from the hospitals/institutes located in different regions of India covering 64% (#18) of the states and 50% (#4) of the union territories took part in this survey. 27% (# 70) of the participants were from Delhi-National Capital Region (NCR) followed by 21% (#55) from Maharashtra and 11% (#30) from Uttar Pradesh. Rest of the participants i.e. 41% (#107) are sparsely distributed across different states and union territories of India (Fig. 1).

Descriptive statistics showing knowledge, attitude and practices of non-genetic clinicians on genetic disorders and testing

Survey revealed that more than 95% of the participants are aware of genetic disorders and testing (Fig. 2A). Likewise 95% of the respondents realize the importance of genetic counseling (Fig. 2B) and referring the patients to the genetic counselor/geneticist for better understanding of the disease (Fig. 2D). Around 75% of the participants are interacting with the patients having genetic defects on a regular basis (Fig. 2F). Survey has also explored that participants have a fair idea on prevalence of rare diseases (Fig. 3A), good theoretical knowledge on various genetic tests like fluorescence in situ hybridization (FISH), karyotyping, microarray techniques, multiplex ligation-dependent probe amplification (MLPA), PCR assays and various sequencing technologies including Sanger, NGS etc (Fig. 3B). Also, more than 60% participants have adequate understanding on karyotyping indications (Fig. 3E), chromosomal microarray (Fig. 3F) like molecular cytogenetic diagnostic methods. Moreover, participants have ample experience of cases (patients) on various genetic conditions/disorders (Fig. 4A) and it is also reflected from their (more than 75% of the participants) correct answers while identifying genetic diseases from the images (Fig. 4B). Majority of the participants (~ 75%) expressed their inability in choosing appropriate genetic test (Fig. 2C). More than half of the respondents showed lack of practical knowledge on the first generation and next generation sequencing (NGS) technologies which has become routine process of any genomic study presently (Fig. 2I).

Survey showed that sixty percent participants find difficulty in consulting genetic counselors (Fig. 2J). Also, it is very difficult to conclude from their responses whether they are keen to refer patients with genetic diseases to genetic counselors/clinical geneticist (Fig. 3D).

More than 70% of the participants are well aware of the genetic disease prevalence in our country (Fig. 2E), importance of experts in the field of clinical/medical genetics (Fig. 2G), and necessity of proper diagnosis in every patient (Fig. 2H). Majority of them (~ 70%) are willing to learn more on the genetic disorders and testing (Fig. 3C). Eventually, most of the participants (more than 75%) have found this survey very useful in spreading awareness (Fig. 2K) and also expressed their willingness to participate in similar kinds of genetics related surveys in future (Fig. 2L) which is also reflected in their positive feedback on this present genetic survey (Fig. 5).

This study was conducted to assess the knowledge, attitude and practices towards genetic disorders and testing among non geneticist clinicians of Indian armed forces. As geography can influence the genetic differences and disease prevalence (Prohaska et al. 2019), conducting an unbiased meaningful survey on human health requires presence of significant geographical diversity in the data. In this survey also, participants were from diverse geographical regions of India.

Similar to other countries, in India also general practitioners/physicians are primary contact for patients and act as gatekeepers to specialist care (Boerma et al. 1997). Adequate knowledge and awareness amongst them is required to identify and manage patients with genetic disorder. Literature is replete with studies which have looked into physician’s knowledge and practices towards genetic disorders and genetic tests. Limited studies which have been conducted in this field have found deficient knowledge (Watson et al. 1999; Escher et al. 2000; Schroy et al. 2002). Consistent with our findings, study conducted by Hunter et al. (Hunter et al. 1998) on Canadian physicians showed that their theoretical knowledge about genetic disorders was good but only minority of physicians were confident in providing genetic counseling for simple scenarios. Hofman et al. (Hofman et al. 1993) concluded that physicians are not able to keep pace with the rapid advances in the field of genetics. In Indian Armed forces, field of medical genetics is in nascent stage. There is only one trained clinical geneticist at present. Patients with genetic disorders are primarily attended by non geneticist specialist and sub specialist. Most of the time genetic tests are ordered by general pediatricians, pediatric neurologists, oncologists. This survey revealed that participants lack confidence in understanding advanced genetic tests like next generation sequencing. Marieke et al. (Baars et al. 2005) conducted a survey to assess knowledge of genetics and awareness of genetic tests in random samples of general practitioners, gynecologists and pediatricians in The Netherlands. Their study showed lack of genetic knowledge amongst non genetic clinicians. Further in their study, it was observed that knowledge scores were influenced by type of specialty, exposure to patients, year of graduation and short term training in genetics. Similarly, we also found that specialist like general pediatrican, pediatric neurologist who are exposed to patients with genetic disorders, have better knowledge than others. Commensurate with our findings, studies have shown that primary care physicians are willing to learn and incorporate genetics in their practice in the future, but there is felt need for more education in genetics and genetic counseling (Fetters et al. 1999; Emery et al. 1999; Suchard et al. 1999).

Strength of study

Strength of the study is in participation of non genetic clinicians of various specialties and subspecialties.

Limitations of study

One of the limitations of this study is small sample size, which may not be representative of the total cohort. Another limitation is survey bias and non-response error. Clinicians with interest in or previous experience in managing genetic disorders were more likely to respond to this survey.

Recommendation

Based on the survey findings, it is recommended that Continuing Medical Education (Offline and online) should be provided to all the non-geneticist clinicians for better understanding of clinical genetics and bridge the gap. The role of geneticist & genetic counselors is to guide the clinicians on the interpretation and diagnosis of genetic disorders. The availability of geneticist & genetic counselors in healthcare system should to be encouraged in India and Indian Armed forces.

In conclusion, this study demonstrates that non-geneticist clinicians have fair theoretical knowledge on genetic disorders and genetic testing while there are clear deficiencies in practical aspects including selecting and interpreting genetic tests, providing genetic counseling for simple scenarios. Respondents found this survey useful and have expressed their willingness to learn more about the advances in the field of genetics.

Acknowledgments We are very much thankful to the participants for their valuable time.

Authors’s contribution AD conceptualized and conducted the survey, drafted manuscript. LC conducted the survey and drafted manuscript. GD and PK analysed the results and drafted manuscript. AK drafted manuscript.

Competing interests The authors declare no competing interests.

Conflict of Interest Authors Gourab Das, Pramod Kumar, Lakshita Chauhan, Amit Kumar & Aradhana Dwivedideclare that they have no conflicts of interest.

Consent to participate Informed consent was obtained from all individual participants.

No non-human animal studies were performed by the authors for this paper.

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No competing interests reported.

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A cross-sectional survey to assess the knowledge, attitude and practices regarding genetic disorders and testing among non-genetic clinicians of Armed Forces, India

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Introduction

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