|Year : 2023 | Volume
| Issue : 1 | Page : 34-36
Perception towards newborn screening
Sridhar Amalakanti1, Kesava Venkata Raman Arepalli2, Tarun Kumar Suvvari3, Jyothi Priya Jillella4
1 Department of General Medicine, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh, India
2 Department of General Medicine, Great Eastern Medical School and Hospital, Ragolu, Andhra Pradesh, India
3 Department of General Medicine, Dr. NTR University of Health Sciences, Vijayawada, Andhra Pradesh, India
4 Department of Physiotherapy, Harika College of Physiotherapy, GNM, Harika College of Physiotherapy, Guntur, Andhra Pradesh, India
|Date of Submission||19-Apr-2022|
|Date of Decision||15-Sep-2022|
|Date of Acceptance||25-Feb-2023|
|Date of Web Publication||26-Apr-2023|
Dr. Sridhar Amalakanti
Department of General Medicine, All India Institute of Medical Sciences, Mangalagiri, Andhra Pradesh
Source of Support: None, Conflict of Interest: None
Background: Newborn screening (NBS) to identify various disorders has been running successfully across the world. But the public in many developing countries do not have access to this program. Aims: To assess the awareness of NBS in patients and clinicians. Patients and Methods: We assessed the awareness of NBS by oral questionnaire. Results: We found that, in the community the awareness regarding NBS was low [47.2%] and the knowledge of the availability of the test was less both in the community [65%] and amongst clinicians [11/28]. But all the subjects opined that the tests will have a high rate of acceptance if they are offered free of cost. Conclusions: The awareness regarding NBS is low but has potential for acceptance.
Keywords: Inborn errors of metabolism, neonatal screening, newborn screening
|How to cite this article:|
Amalakanti S, Raman Arepalli KV, Suvvari TK, Jillella JP. Perception towards newborn screening. J Med Evid 2023;4:34-6
| Introduction|| |
Newborn screening (NBS) involves a group of tests that screen inherited disorders in newborn infants. The timeline to conduct NBS varies from country to country, usually done within 24–72 h after birth. For newborn infants, NBS ensures safe screening of specific serious diseases/disorders at birth, which can help doctors to treat at the earliest.
NBS was first performed in USA for identification of a metabolic disorder – phenylketonuria (PKU); later, NBS was adopted by several developed countries across the world. In India, the NBS was initiated by Dr. Lal PathLabs in 2004, followed by the NIMHANS in 2007. The most common disorders detected through NBS are congenital hypothyroidism (CH), glucose-6-phosphate dehydrogenase (G6PD) deficiency and sickle cell disease.
In India, many babies are diagnosed with CH very late, which may have long-lasting sequelae on the growing brain. Another disease that could be easily screened by NBS: G6PD deficiency can cause haemolytic anaemia and may lead to later sequelae such as bilirubin encephalopathy and cerebral palsy.
Awareness of the importance of the programme is the first step to address the problem. There are a very few studies reporting the awareness of physicians and parents towards the NBS., In this study, we aimed to assess the awareness of the clinicians and parents towards newborn screening.
| Methodology|| |
An observational cross-sectional study was conducted among clinicians and public at a medical hospital from January 2022 to March 2022. The study was conducted using pre-tested questionnaires. The questionnaires were initially tested for validity and reliability. Two experts in public health, one paediatrician and an obstetrician assessed and commented on the questionnaire. Modifications were made accordingly. Pre-testing of the questionnaire was done on 20 participants. They answered the questionnaire twice 2 weeks apart. Cronbach's alpha was 0.73, and the intra-class correlation coefficient was 0.96. Random sampling of 132 patients and convenient sample of 28 patients were taken. The questionnaire was provided in English and Telugu. Written informed consent of participation was obtained.
The initial questions focused on sociodemographic details, followed by questions regarding the knowledge and perceptions on NBS [Supplement 1] and [Supplement 2].
Data were entered into MS Excel spreadsheets 2019, and statistical analysis was performed. The data were presented using mean and standard deviation for quantitative variables. The data were presented using frequency and percentage for categorical variables.
| Results|| |
A total of 151 participated in the study; out of which 28 were clinicians. Among the non-clinicians, the mean age was 28.1 years, and 55% were male. Among them, 39.83% were planning to have children, 15.44% had one child and 9.75% had more than one child. 47.2% of participants had never heard about NBS. Moreover, 65% had no idea whether it was being offered in their area. However, significantly 71% were ready to get the test if it was offered free of cost. Almost half of the participants had never heard of NBS, but 71% of participants were willing to get the test done without even knowing about the test if it was free of cost. Without knowing the merits and demerits of an investigation, especially newborn screening, participants were ready to get the test done just because it was free.
Nineteen out of 28 clinician responders were paediatricians, and six were obstetricians. There were two physicians and one pulmonologist responder. 26 out of 28 doctors felt that NBS was needed, and 22 felt that it should be mandatory. Only 11 clinicians knew that NBS was being offered in the area. However, 17 doctors opined that hypothyroidism was being tested in their area. Moreover, more of these doctors were sending patients to (8/12) private laboratories than (3/12) government centres. Most clinicians (12/28) opined that CH was the disease that ought to be tested for as a part of NBS. Other disorders put forward were congenital adrenal hyperplasia by two practitioners and inborn errors of metabolism by two doctors.
The clinicians opined that 60% of their patients 'are too poor to afford medical expenses'. Clinicians also opined that 20%–50% of their patients would be willing to go for NBS, and 90%–100% would be willing if the test was free.
Most physicians opined other issues such as, that parents did not have awareness regarding NBS, that people felt that it was waste of money and that they have concerns about treatment and follow-up.
Given choices, 9/28 doctors reported that mass spectrometry was the best technology for NBS, and 13 responded that they did not know which was the best available.
Furthermore, 10/28 clinicians responded that cost factor was a barrier to address.
| Discussion|| |
Our study found that in the community, the awareness regarding NBS was low (47.2%), and the knowledge of the availability of the test was less both in the community (65%) and among clinicians (11/28). However, all of the participants opined that the tests will have a high rate of acceptance if they are offered free of cost.
In line with the previous studies across India and in many developing nations, the awareness of NBS was low in our participants also. A study published in 2022 from Jordon showed that only 14% of mothers answered questions about NBS correctly. A similar survey from Pakistan reported 20% awareness of NBS in the parents. A study conducted in Saudi Arabia showed a similar low (36%) knowledge of NBS.Clearly, there is a strong case for increasing public awareness programmes.
Our study showed low awareness among clinicians, corresponding to a Hong Kong study which reported that 73% of healthcare professionals were unaware of expanded NBS. Only one online survey study on newborn hearing screening showed more than 90% awareness, but the respondents were mostly from medical colleges and cities. This may explain our different results from this particular study.
Studies show a wide range of availability in different parts of the country from Chandigarh, Kerala and Goa having a running programme in place to a total lack of services in remote areas. Hence, the gap could be narrowed by targeted campaigns at the national level. The success of the programme in similar economies like Brazil should be an adequate precedent.
Considering that over half of the patients of the clinicians in our study 'are too poor to afford medical expenses', it was not surprising that a free of cost test was supported by the participants. Free of cost NBS initiatives have been taken up by various central governments such as Hong Kong and Brazil and Indian state governments such as Kerala, Chandigarh and Goa. As such NBS coverage is very high in these states.
In our study, more number of the tests were being sent to the private sector than the public sector. This suggests that there is an unmet need that can be addressed to increase awareness and accessibility in the public health policy. It also shows that some parents are ready to pay and avail the services.
The NBS in various countries varies. CH is the most common disease screened for across the globe as in our study. In addition, focus is on sickle cell disease in Africa, medium-chain acyl-CoA dehydrogenase deficiency and PKU in the US and cystic fibrosis in addition to the aforementioned, in Europe. Each country may focus on local design patterns and design the required screening panel.
Encouragingly, our data show that the clinicians had an idea about the latest techniques like mass spectrometry that can screen multiple disease at a single step. Hence, this can be used to institute the infrastructure for NBS.
Our study though limited by a small sample size rings out the need for awareness, accessibility and public funding for NBS in small town set-ups.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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