Promotion of New Born Screening for Genetic Disorders

This research aims to promote awareness about new born screening (NBS) for the detection of genetic disorders in new born babies. It explores the prevalence of genetic disorders in Arab nations, the impact of consanguineous marriage relationships, and the lack of awareness about genetic testing and counselling. The research also focuses on the importance of prenatal screening (PNS) and genetic counselling in preventing and managing genetic disorders. The study will involve conducting semi-structured interviews with pregnant mothers in a healthcare setting.

Running head: HEALTHCARE ASSIGNMENT
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1HEALTHCARE ASSIGNMENT
Research Topic:
“Promotion of new born screening (NBS) for the detection of genetic disorders in new born
babies”
Background:
According to a report published by the Centre for Arab Genomic Studies (2019), it
has been mentioned that the prevalence of genetic disorders is the highest among the Arab
nations that specifically include Dubai, Saudi Arabia and Abu Dhabi. In addition to this, it
has further been reported that a total number of 906 genetic disorders are endemic to the Arab
nations (Centre for Arab Genomic Studies, 2019). The most common genetic disorders
include thalassemia, Wilson’s disease, Down’s syndrome, Charcot-Marie Tooth disease and
Charcot-Marie-Tooth Disease. In addition to this, as mentioned by Therrell et al. (2015), the
prevalence of consanguineous marriage relationships within Saudi Arabia and other Arabian
nations increase the probability of developing mutations and autosomal recessive disorders.
Further, a report published by the Emro.who.int (2019), indicated that genetic disorders
contributed to 30% of the paediatric hospital admissions. Also, the childhood mortality rate
on account of congenital anomalies and genetic disorders was estimated to be 50%. As stated
by Alfadhel et al. (2017), awareness about new born screening and genetic counselling is not
prevalent within the Eastern Mediterranean region. This could be majorly because of lack of
awareness about the pattern of genetic inheritance of diseases and a greater influence of
orthodox cultural beliefs. Research studies typically suggest that genetic disorders contribute
to 16% of life long disability among infants and at the same time also leads to increased
medical expenditure pertaining to disease treatment and management options.
Research Rationale:
On the basis of the background information, it can be mentioned that disseminating
education and awareness about genetic testing among expecting couples can drastically help
in improving health outcomes. New born screening can be defined as the procedure of
clinically testing the infant for a number of genetic disorders that might be potentially present
in the baby but are not detectable at birth. In addition to this, the research would also intend
to promote awareness about genetic counselling and Pre natal screening or (PNS) among the
expecting mothers. Pre natal screening (PNS), can be defined as the screening procedure
during the pregnancy period so as to critically assess the risk factors that could potentially
cause a genetic disorder among the baby. On the other hand, the process of genetic
counselling, essentially is carried out by a genetic counsellor who takes down the family
history of both the families of the expecting couple and predicts the probability of the baby to
be affected by a genetic disorder. The genetic counsellor estimates the probability and also
offers options to the couple which could help in preventing an eventful pregnancy. In case
where there is a high risk, the counsellor discussed treatment and management options which
could improve the quality of life of both the parents as well as the new born.
Research Outline:
The research intends to promote awareness about NBS, PNS and genetic counselling
by conducting semi-structured interviews with pregnant mothers admitted to the maternity
ward within a healthcare setting.

2HEALTHCARE ASSIGNMENT
References:
Centre for Arab Genomic Studies (2019). Center for Arab Genomic Studies - A Division of
Sheikh Hamdan Award for Medical Sciences. [online] Cags.org.ae. Available at:
http://www.cags.org.ae/ [Accessed 22 Mar. 2019].
Emro.who.int (2019). WHO EMRO | Genetic disorders and congenital abnormalities:
strategies for reducing the burden in the Region | Volume 3, issue 1 | EMHJ volume
3, 1997. [online] Emro.who.int. Available at: http://www.emro.who.int/emhj-volume-
3-1997/volume-3-issue-1/article18.html [Accessed 22 Mar. 2019].
Therrell, B. L., Padilla, C. D., Loeber, J. G., Kneisser, I., Saadallah, A., Borrajo, G. J., &
Adams, J. (2015, April). Current status of newborn screening worldwide: 2015.
In Seminars in Perinatology (Vol. 39, No. 3, pp. 171-187). WB Saunders.
Alfadhel, M., Al Othaim, A., Al Saif, S., Al Mutairi, F., Alsayed, M., Rahbeeni, Z., ... &
Aljohery, S. (2017). Expanded newborn screening program in Saudi Arabia:
incidence of screened disorders. Journal of paediatrics and child health, 53(6), 585-
591.