Dr. Abhishek Gupta, BDS, MDS

The unique and incidental findings can vary based on regional health priorities, genetic diversity, and the scope of the screening panels in each country. These findings may prompt additional assessments and interventions to ensure the well-being of the newborns and provide necessary support to their families. Opinions of stakeholders, the general public, and genetics experts will ultimately be crucial in creating a comprehensive disclosure strategy for information derived from clinical sequencing testing.

Newborn screening is a vital healthcare practice, crucial in identifying and treating infant conditions. The cost, reimbursement, accessibility, and laboratory infrastructure associated with newborn screening vary across regions, including Canada and Latin America. Challenges remain while both regions have made significant progress in implementing newborn screening programs.

Spinal muscular atrophy (SMA) is an autosomal recessive condition marked by the irreversible loss of motor neurons, causing increasing muscle weakening and atrophy of the limb, trunk, bulbar, and respiratory muscles, making it difficult to breathe, feed, walk and sit.(Groulx-Boivin et al. 2023; Niri et al. 2023) SMA is one of the leading genetic conditions (1 in 10,000 live-born infants) contributing to infant mortality. (Groulx-Boivin et al. 2023) Severe forms of SMA progress rapidly, early signs are sometimes undiagnostic, and it may take months to diagnose, and treatment may not be entirely possible by then. Before 2016, the main goals of SMA therapy were symptom control and supportive care. Effective disease-modifying treatments (DMTs) have demonstrated significant promise in halting disease development.(Niri et al. 2023) Clinical research has also shown that the medication is most successful when started before the onset of symptoms. Therefore, reducing morbidity and mortality depends on early diagnosis. Early diagnosis is only possible if all infants are screened at birth. With this vision, SMA has been included in many NBS programs. Even the cost-effectiveness analysis has shown that universal NBS for SMA is economically beneficial in regions and nations where disease-modifying treatment is accessible.

Genomic sequencing is now commonly employed in therapeutic applications, and its use in newborn screening has been vigorously promoted. Predictive genetic testing is being progressively adapted in a paediatrician’s clinic. Over time, questions regarding clinical, ethical, economic, moral, legal, psychological, social, geographical and technical issues have been brought up by the expansion of newborn screening(NBS) globally.(Remec ZI 2021) In the 1960s phenylketonuria (PKU) screening programs were pioneered for newborn screening followed by screening for congenital hypothyroidism (CH) in the 1970s.(Remec ZI 2021, Brosco J 2022) With evolution of tandem mass spectrometry and further research such as high-throughput sequencing technologies, have saved both time and cost for massive multiparallel sequencing. Currently, developed countries have only been able to fully use NBS whereas developing countries are still struggling with their unique issues.( Cabello JF 2021)

The use of cosmetic products during the time of women's transition to menopause