Spinal Muscular Atrophy Carrier Screening Program: Awareness and Attitude of Healthcare Professionals in Turkey

doi:10.21203/rs.3.rs-4716412/v1

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Spinal Muscular Atrophy Carrier Screening Program: Awareness and Attitude of Healthcare Professionals in Turkey

https://doi.org/10.21203/rs.3.rs-4716412/v1

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Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by mutations in the SMN1 gene, leading to progressive muscle weakness. The global incidence of SMA is approximately 1–3 per 10,000 live births, and the carrier frequency of SMN1 gene mutations is estimated to be about 1 in 50 individuals. In response to increasing carrier rates, especially due to consanguineous marriages, Turkey launched the SMA Carrier Screening Program in 2021. Considering that recent SMA cases have emerged among healthcare workers, we aimed to evaluate their awareness of this program. After receiving ethics approval, 1,322 healthcare professionals completed a 15-item survey based on the SMA Carrier Screening Guidelines. Of these, 5.8% were unaware of SMA, and 26% lacked information about the national screening program. Awareness of the screening program was significantly lower among secondary and tertiary healthcare professionals compared to primary healthcare professionals (p < 0.0001), and among non-physician healthcare professionals compared to physician (p < 0.0001). Additionally, a serious lack of information was observed concerning the parts of the screening covering the pregnancy period. Although there is generally high awareness of the SMA Carrier Screening Program among healthcare professionals, significant knowledge gaps exist. These findings highlight the need for increased efforts to more effectively deliver screening programs and continue the education of healthcare professionals. Education and awareness campaigns can enhance program awareness and effectiveness, reach wider audiences, and contribute to preventive measures for the health of future generations.

SMA

national carrier screening program

Spinal muscular atrophy (SMA, MIM#253300) is an autosomal recessive genetic disease characterized by muscle weakness and atrophy resulting from the progressive degeneration and irreversible loss of anterior horn cells in the spinal cord. It is a rare disease, occurring in approximately one in 6,000 to 10,000 births (Muralidharan et al., 2011).

SMA is caused by mutations in the SMN1 gene, located in the chromosome region 5q13 (Ogino et al., 2002). Homozygous deletions in the SMN1 gene account for 95% of the disease cases (Arnold et al., 2015; Prior et al., 2020). The homologous pseudogene of SMN1, called SMN2, is found in the chromosome region 5q11-q13. Although there is only a five-nucleotide difference between SMN1 and SMN2, this difference does not lead to any amino acid changes (Prior, 2008). The severity of SMA is inversely related to the number of SMN2 gene copies in the patient (Muralidharan et al., 2011).

SMA is divided into four types, depending on the age of onset of the disease and the degree of motor function in affected individuals. Type I is the most common and most severe form of SMA, characterized by widespread muscle weakness. Patients with this type can never sit without support, and over time, they experience increasing difficulties with swallowing, feeding, and breathing. Their life expectancy is typically around 2 years. The onset of symptoms in Type II SMA occurs slightly later than in Type I. Children with Type II SMA can usually sit without support and, although some can stand, they can never walk independently. Patients with Type III SMA have less severe symptoms and can walk; however, as the disease progresses, they gradually lose this ability. Type IV SMA includes patients with a milder form of the disease, diagnosed in early adulthood (≥ 18 years) (Lin et al., 2015; Arnold et al., 2015).

SMA is one of the fatal genetic disorders with a high carrier rate (1/40 to 1/60) (D'Amico ae al., 2011). In a study conducted in Turkey, the frequency of SMA carrier status was reported as 1/28 (Özdemir et al., 2022). In a thesis study conducted at our center, the SMA carrier frequency was found to be 1/21, which is higher than that reported in many other countries (Öztürk, 2020).

Due to the devastating nature of rare diseases such as SMA, they have significant negative economic, social, and psychological impacts on patients, families, and societies, as well as challenging and costly diagnostic and treatment processes (Angelis et al., 2015; Benito-Lozano et al., 2023; Fidan et al., 2022). Rare diseases are a public health problem and affect 8% of the population (Forman et al., 2012). The primary way to alleviate the burden of rare diseases on society and the state is to prevent the occurrence of these diseases, if possible. A comprehensive rare disease control program has two basic components: the first is primary prevention with carrier screening, and the second is secondary prevention with early detection screening (Fidan et al., 2022). The ACMG (American College of Medical Genetics and Genomics) recommended population-wide SMA carrier screening in 2008 (Prior et al., 2008). The main goal of carrier screening is to identify asymptomatic carrier couples who have no family history and are at risk of having a child with a specific genetic disease. SMA carrier screening in Turkey was initiated across 81 provinces in December 2021. In Turkey, the SMA carrier screening test is performed by family physicians at family health centers and is conducted before marriage, for married couples planning a pregnancy, and in the first trimester of pregnancy. Among couples who apply before marriage, the male individual is tested first; if the result is negative, the screening is terminated. If a male individual is detected as a carrier, his partner is also recommended to undergo a screening test. Acording to the national SMA carrier screening program, for patients applying in the first three months of pregnancy, a screening test is recommended for both partners simultaneously; if carrier status is detected in both, they are referred to the nearest genetic specialist. The screening method used is Real-Time PCR, which can detect changes in the copy number in exon 7 of SMN1 with at least 95% sensitivity and specificity.

This study was conducted to measure healthcare professionals' awareness of the national SMA carrier screening program that has been carried out in Turkey since 2021, to increase their awareness by bringing it to the forefront of healthcare discussions, and to contribute to the literature.

Study Design and Participants

The study was designed by the Department of Medical Genetics at our institution and conducted between August 2023 and April 2024. A 15-question survey form (Supplemental material) was created using Google Forms and shared with participants. These participants included physicians, dentists, nurses, pharmacists, physiotherapists, dietitians, psychologists, technicians, laboratory personnel, and support staff working as healthcare professionals in various centers across Turkey. The survey link was distributed to a total of 1,335 participants through social networks, professional networks, email, and physical work environments.

Questionnaire Design

In the introduction part of the survey, participants were informed about the purpose of the study, the confidentiality of personal information, and the contact information of the investigators. The first question (Q1) asked whether participants agreed to participate in the study and confirmed they were over 18 years of age. Only those who gave consent were included in the study. Between the second and seventh questions (Q2-7), participants were asked descriptive questions about their age, gender, city of residence, occupation, the branch they work in, the level of healthcare institution they work at, and the number of years they have been in their profession. After the eighth and ninth questions (Q8-9), which asked whether participants were aware of SMA disease and the National SMA Carrier Program in yes/no format, questions ten to fifteen (Q10-15) measured the awareness levels of those who indicated they were aware of the national SMA carrier screening program, using multiple-choice questions.

Statistical Analysis

Statistical analyses were performed to investigate the association between various factors and the outcomes of interest, odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. The significance of the associations was assessed using Chi-square tests, and p-values were calculated to determine the statistical significance of the findings. A p-value of less than 0.05 was considered statistically significant.

In our study, we included 1,322 people who agreed to participate, while the responses of 13 people who did not agree were excluded. Table 1 summarizes the sociodemographic characteristics of the participants (Table 1). Regarding the age distribution, 11.7% (n = 155) were aged 20–30 years, 33.5% (n = 443) were 31–40 years old, 28.9% (n = 383) were 41–50 years old, 22% (n = 292) were 51–60 years old, and 3.4% (n = 45) were over 60 years old. Four participants did not specify their age. Of the participants, 65.8% (n = 870) were female, and 34% (n = 446) were male, with six not specifying their gender. The provinces with the highest participation rates were Çanakkale at 24% (n = 309), İzmir at 13.4% (n = 164), and Istanbul at 11.1% (n = 135). Among the participants, 80.4% (n = 1067) were physicians, and 18.72% (n = 246) were non-physician health workers. Of the physicians, 26.7% (n = 285) were family physicians, 22% (n = 233) were general practitioners, 4.4% (n = 47) were specialists in gynecology and obstetrics, 4.3% (n = 46) were pediatricians, and 3.1% (n = 34) were medical genetics specialists. The remaining branches, grouped under 'other specialty branches', comprised 39.3% (n = 420) of the physician participants. Nine participants did not specify their branch or position. Regarding their workplace, 48.26% (n = 638) were employed in a primary healthcare institution, 18.3% (n = 243) in a secondary healthcare institution, and 30.8% (n = 408) in a tertiary healthcare institution, with 33 not answering this question. Regarding experience, 28% (n = 371) of the participants had 0–10 years in their profession, 29.1% (n = 386) had 11–20 years, 27.3% (n = 361) had 21–30 years, and 14.6% had over 30 years. Nine participants did not answer this question.

Table 1

Sociodemographic Characteristics of Participants.
Variables	n	%
Age 20–30 31–40 41–50 51–60 >60 Not Specified	155 443 383 292 45 4	%11.7 %33.5 %29 %22 %3.4 %0.3
Gender Female Male Not Specified	870 446 6	%65.8 %33.7 %0.45
Province Çanakkale İzmir İstanbul Ankara Other Not Specified	309 164 135 114 593 7	%23.3 %12.4 %10.2 %8.6 %44.8 %0.52
Branch/position Physician Family Physician General Practitioner Pediatrics Medical Genetics Gynecology and Obstetrics Other Non-physician health workers Nurse Midwife Dentist Pharmacist Medical Secretary Other Not Specified	1067 285 235 46 34 47 420 246 72 36 31 21 14 72 9	%80.4 %26.7 %22 %4.3 %3.1 %4.4 %39.3 %18.6 %29.2 %14.6 %12.6 %8.5 %5.7 %2.8 %0.6
Level of healthcare institution Primary Secondary Tertiary Not Specified	638 243 408 33	%48.2 %18.3 %30.8 %2.4
Year of profession 0–10 11–20 21–30 >30 Not Specified	371 386 361 194 9	%28 %29.1 %27.3 %14.6 %0.6

The rate of participants who answered 'yes' to Q8 “Are you knowledgeable about spinal muscular atrophy (SMA)?” was 93.6% (n = 1,238), and the rate of those who answered 'no' was 5.8% (n = 77). Seven participants did not answer this question. Among non-physician healthcare professionals, 14.2% (n = 35) had no knowledge of SMA, compared to 4.5% (n = 36) of non-family physicians and 1.7% (n = 5) of family physicians. The odds ratio was found to be 4.15 (p < 0.0001) when comparing physicians with non-physician healthcare professionals (Table 2). Additionally, 4.5% (n = 29) of primary healthcare workers, 7.8% (n = 19) of secondary healthcare workers, and 6.1% (n = 25) of tertiary healthcare workers had no knowledge of SMA. The odds ratio was found to be 1.5 (p = 0.08) when comparing primary care workers with secondary and tertiary healthcare workers (Table 2).

Table 2

Knowledge of primary, secondary and tertiary healthcare professionals about SMA and SMA carrier screening program (%), and knowledge of physicians and non-physician healthcare professionals about SMA and SMA screening program (%)
	Primary healthcare professionals n = 638	Secondary and Tertiary healthcare professionals n = 651	Total n = 1289	Odd’s Ratio	P value
I am knowledgeable about SMA	95,5	93,2	94,3	1,5	0,08
I am knowledgeable about SMA screening program	86,3	62,3	74,1	3,7	< 0.0001
	Physicians n = 1067	Non-physician n = 246	Total n = 1313	Odd’s Ratio	P value
I am knowledgeable about SMA	96,1	85,8	94,2	4,15	< 0.0001
I am knowledgeable about SMA screening program	77,4	59%	73,9	2,39	< 0.0001

The rate of participants who answered 'yes' to Q9 “Are you knowledgeable about the national SMA carrier screening program?”, was 72.8% (n = 963), and the rate of those who answered 'no' was 26% (n = 345). Fourteen participants did not answer this question. The rate of those without knowledge of the screening program was 41% (n = 101) among non-physician healthcare professionals, 29.5% (n = 232) among non-family physicians, and 3.1% (n = 9) among family physicians. An odds ratio of 2.39 (p < 0.0001) was observed when comparing physicians with non-physician healthcare professionals (Table 2). Additionally, 13.7% (n = 88) of primary healthcare workers, 48% (n = 117) of secondary healthcare workers, and 31.3% (n = 128) of tertiary healthcare workers were unaware of the screening program. The odds ratio was 3.7, with a p-value of less than 0.0001, when comparing primary care workers with secondary and tertiary healthcare workers (Table 2).

The responses from 963 participants who had information about the national SMA screening program to Q10 “Who does the national SMA carrier screening program cover?”, are summarized in Table 3 (Table 3).

Table 3

Responses to Q10 from respondents knowledgeable about the national SMA carrier screening program.
Variables	n	%
Couples applying before marriage	283	%29.3
Couples applying before marriage, and individuals under the age of 18	1	%0.10
Couples applying before marriage, and those applying before pregnancy	253	%26.2
Couples applying before marriage, and those applying before pregnancy, and individuals under the age of 18	5	%0.51
Couples applying before marriage, and those applying before pregnancy, and individuals under the age of 18, and those applying within the first 12 weeks of pregnancy	34	%3.53
Couples applying before marriage, and those applying within the first 12 weeks of pregnancy	330	%34.2
Couples applying before marriage, and those applying before pregnancy, and those applying within the first 12 weeks of pregnancy	34	%3.53
Those applying before pregnancy	13	%1.34
Those applying before pregnancy, and individuals under the age of 18	1	%0.10
Those applying before pregnancy, and those applying within the first 12 weeks of pregnancy	4	%0.41
Those applying within the first 12 weeks of pregnancy	5	%0.51

In response to Q11 “Where should one apply to obtain national SMA carrier screening?”, 88.8% (n = 856) of the 963 participants who were informed about the national SMA carrier screening program answered 'family medicine'. Additionally, 9.8% (n = 95) said 'medical genetics outpatient clinic', and 1.2% (n = 12) responded gynecology and obstetrics outpatient clinic'. The responses of participants who were knowledgeable about the national SMA carrier screening program to Q12 “Select the correct ones from the following statements about the national SMA carrier screening program.”, are summarized in Table 4 (Table 4).

Table 4

Responses to Q12 from respondents with knowledge of the national SMA carrier screening program.
Variables	n		%
Both couples who apply before marriage are screened at the same time	128		%13.2
Both couples who apply before marriage are screened at the same time, and During pregnancy, both husband and wife are screened.	66		%6.85
Among couples who apply before marriage, the male individual is screened first.	419		%43.5
Among couples who apply before marriage, the male individual is screened first, and Both couples who apply before marriage are screened at the same time.	8		%0.83
Among couples who apply before marriage, the male individual is screened first, and Both couples who apply before marriage are screened at the same time, and During pregnancy, both husband and wife are screened.	7		%0.72
Among couples who apply before marriage, the male individual is screened first, and Among couples who apply before marriage, the female individual is screened first, and Both couples who apply before marriage are screened at the same time.	1		%0.1
Among couples who apply before marriage, the male individual is screened first, and Among couples applying before marriage, the female individual is screened first, and Both couples who apply before marriage are screened at the same time, and During pregnancy, both husband and wife are screened.	1		%0.1
Among couples who apply before marriage, the male individual is screened first, and During pregnancy, both husband and wife are screened.	286		%29.6
Among couples applying before marriage, the female individual is screened first.	25	%2.59
Among couples applying before marriage, the female individual is screened first, and During pregnancy, both husband and wife are screened.	3	%0.31
During pregnancy, both husband and wife are screened.	14	%1.45
Blank	5	%0.51

In response to Q13 “To which of the following units are patients referred if their SMA carrier screening result is "Suspicious"?”, 95.11% (n = 916) of the participants indicated 'medical genetics outpatient clinic,' 3.42% (n = 33) said 'gynecology and obstetrics outpatient clinic', 0.83% (n = 8) chose 'neurology outpatient clinic', and 0.2% (n = 2) chose 'internal medicine outpatient clinic', while four participants did not answer the question. Regarding Q14 “Where should patients who are carriers of SMA after the 14th week of pregnancy apply?”, 65% (n = 626) of the participants answered 'medical genetics outpatient clinic', 33.3% (n = 321) answered 'gynecology and obstetrics outpatient clinic', 1.14% (n = 11) said 'neurology outpatient clinic', and five participants did not answer the question. To Q15 “Where should individuals with a family history of SMA carriage apply?”, 95.7% (n = 922) responded 'medical genetics outpatient clinic', 2.28% (n = 22) chose 'gynecology and obstetrics outpatient clinic', 1.45% (n = 14) selected 'neurology outpatient clinic', and four participants did not respond to this question.

SMA is an autosomal recessive disorder characterized by the degeneration of motor neurons in the spinal cord, atrophy of skeletal muscles, and general weakness. It is also the leading monogenic cause of infant mortality (Lunn & Wang, 2008).

According to the Turkish Demographic and Health Survey (TDHS) 2018 data, 24% of women reported that they were related to their spouses (Koç, 2022). In our country, where consanguineous marriages are common, the importance of knowledge and awareness about autosomal recessive genetic diseases with high carrier rates, such as SMA, is even greater. It is crucial that planned screening methods are effectively implemented and made accessible to the target population.

Literature reviews conducted to gauge the level of awareness about SMA among both the public and non-geneticist clinicians have revealed limited information on the subject (Moultrie et al., 2016). Studies carried out in Turkey on screening programs other than SMA have shown that healthcare professionals' awareness is inadequate (Kaya et al., 2017; Akpınar et al., 2011). In this context, we believe that our study will make a valuable contribution to the literature. Moreover, the fact that the healthcare professionals who participated in our study come from various demographic backgrounds and specialties will add further data to the literature.

Our study is the first to evaluate the level of knowledge among healthcare workers regarding the SMA carrier screening program in Turkey. We found that while the majority of participants were knowledgeable about SMA as a disease, they lacked information about the screening program.

The rate of participants who lacked knowledge about spinal muscular atrophy (SMA) was 5.8%. Knowledge about SMA among non-physician healthcare professionals was lower than that among physicians, which may be attributed to less exposure to information about genetic diseases and screening programs during their education. A similar study on a different topic showed that although non-physician healthcare workers initially had less knowledge than physicians, their understanding post-education was comparable (Berenson et al., 2015). Another study with midwifery and child development students found a marked difference in knowledge of SMA and awareness of the SMA screening program between those who had taken genetics courses and those who had not (Aydemir & Ayata, 2022). These findings highlight the significance of including genetic education in both the pre-graduate and post-graduate curricula for non-physician healthcare professionals.

The leading entity in the screening program is the primary healthcare institution. Therefore, it is imperative that all primary healthcare workers, especially physicians, possess sufficient knowledge about SMA and its associated screening program. Although there was no significant change in the awareness rates for SMA disease (p = 0.08), awareness of the screening program significantly decreased at the secondary and tertiary levels compared to the primary level (p < 0.0001). This may be due to the fact that primary healthcare workers have received various trainings and announcements about the program and have participated in its implementation. Studies have demonstrated that the effectiveness of programs diminishes when the motivation of health personnel, a critical factor in the success of screening programs, is lacking (Musa et al., 2017; Kalyoncu et al., 2003; Öz et al., 2019). These results imply that the knowledge deficit identified in our study could reduce the success of screening programs. Additionally, a study on the perspectives of parents and healthcare professionals regarding neonatal SMA screening revealed that pre-screening information significantly influenced patients' reactions to screening outcomes (Kariyawasam et al., 2021). We believe that this detected information gap will impact not only the success of the screening program but also patients' responses to the results.

When the responses of participants who stated they were knowledgeable about the national SMA carrier screening program were evaluated regarding whom the program covers, 34.2% (n = 330) correctly identified the scope. However, 57.7% (n: 556) omitted that pregnant women should be screened before 12 weeks. Similarly, only 29.68% (n = 286) of the respondents correctly selected all options in Question 12 about the screening program, and 43.5% (n = 419) chose the option that men should be screened first. The necessity of including both spouses in the screening program during pregnancy was missed by 60% (n: 586). When asked where patients should apply for the SMA carrier screening after the 14th week of pregnancy, 35% of the participants provided answers other than the medical genetics outpatient clinic. These results indicate a significant information gap concerning the aspects of screening that cover the pregnancy period. The SMA carrier screening guidelines include information on screening during pregnancy, and the ACOG has concluded that 'SMA screening should be recommended for all women planning to become pregnant or who are already pregnant' (American College of Obstetricians and Gynecologists. 2017). Likewise, the ACMG has recommended carrier screening for SMA both during and before pregnancy (Laccourreye & Maisonneuve, 2019). Closing this gap is crucial for several reasons. It is important that patients are accurately guided during this period, especially in terms of including couples married before the start of this program in the screening and ensuring tests are performed during the limited window of pregnancy to obtain rapid results.

In public health practices, it is widely accepted that knowledge, awareness, and attitudes about a problem are crucial precursors to all types of behavioral actions (Fishbein & Ajzen, 2009). We recognize that increasing the knowledge and awareness of healthcare workers is essential for the effective implementation of screening programs. Educational materials are necessary to enhance awareness, knowledge, and supportive attitudes towards SMA and its screening program. Service providers face an abundance of new clinical information and recommendations for both common and rare disorders. Therefore, undergraduate and in-service training should be supplemented with materials that are simple, understandable, and memorable. Internet-based training programs can also be supportive in this process (Choma & McKeever, 2015).

In conclusion, this study revealed important findings by evaluating the level of knowledge and awareness of healthcare professionals regarding SMA disease and the carrier screening program. These findings emphasize the need to review vocational training programs, publicize screening programs more effectively, and increase efforts for the continuing education of healthcare personnel. We believe that our study will support future studies focused on building the scientific infrastructure necessary to develop and implement universal carrier screening programs. This effort is critical to addressing inequalities in both local and global contexts, as health is a fundamental human right that should be ensured from birth.

Acknowledgments

Kubra Muge CELIK and Canan CEYLAN KOSE are equal contributors to this work and designed co-first authors. This research did not receive any specific grant from funding agencies in the public, commercial or not-for-profit sectors. The authors thank all healthcare professionals who participated in the survey.

Ethics Approval

This study was approved by the Non-Interventional Clinical Research Ethics Committee of our institution on June 21, 2023, with approval number 2023/09-25.

Declaration of Conflicting Interests

The authors declare no conflict of interest (financial, personal, or professional).

Funding Declaration

There is no funding for this study.

Author Contribution

Kubra Muge CELIK and Canan CEYLAN KOSE are equal contributors to this work and designed co-first authors.

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No competing interests reported.

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Editorial decision: Revision requested
08 Aug, 2024
Reviews received at journal
07 Aug, 2024
Reviews received at journal
31 Jul, 2024
Reviewers agreed at journal
19 Jul, 2024
Reviewers agreed at journal
18 Jul, 2024
Reviewers invited by journal
18 Jul, 2024
Editor assigned by journal
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First submitted to journal
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Spinal Muscular Atrophy Carrier Screening Program: Awareness and Attitude of Healthcare Professionals in Turkey

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Version 1

Abstract

Introductıon

Methods

Study Design and Participants

Questionnaire Design

Statistical Analysis

Results

Discussion

Declarations

Author Contribution

References

Additional Declarations

Status:

Version 1