Application of Genome Sequencing Technology in Newborn Screening

Newborn screening is a successful public health initiative that prevents diseases and reduces mortality through early diagnosis and disease management. In the era of precision medicine, the expansion of genome sequencing capabilities is driving the clinical practice of this technology in newborn screening. However, it is also important to recognize the many challenges such as clinical annotation, ethical issues, and cost-effectiveness.

Genome Sequencing Technology Enhances the Accuracy of Diagnosing Genetic Diseases

Genetic diseases and birth defects are the leading causes of infant mortality. Research shows that more than one-third of critically ill newborns and over 40% of deceased newborns are caused by genetic diseases and birth defects. The hospitalization costs for genetic diseases account for about 10% of the total hospitalization expenses. On the other hand, with the development of gene editing technology, there is hope for curing genetic diseases. Therefore, early definitive diagnosis can guide clinical decision-making, promptly adjust treatment plans, reduce complications, and improve subsequent pregnancy outcomes. Through the improvement of genome sequencing technology and the continuous implementation of relevant expert consensus and guidelines domestically and internationally, the accuracy, reporting speed, and standardization of Genome Sequencing technology in diagnosing genetic diseases have further improved.

Attitudes of Clinicians and Families towards Newborn Genome Sequencing Screening Are Changing

In the clinical exploration of applying Genome Sequencing technology to newborn screening, studies have found that this technology has not been rejected by clinicians and families. Surveys of the 493 parents and 144 clinicians of participating infants showed that most parents (71%) and nearly half of the clinicians (51%) acknowledged the benefits of genome sequencing. Clinicians were more concerned than parents about privacy and discrimination issues related to genomic information. Additionally, some studies have shown that although parents of newborns who will be included in Genome Sequencing exhibit some anxiety, they generally hold a positive belief in the technology and consider the benefits to outweigh the risks. Overall, clinicians and families are optimistic about the potential benefits and limited harms that newborn genomic screening may bring, but family concerns about privacy and test results should not be overlooked.

On the other hand, there is a varying level of genetic knowledge among clinicians domestically and internationally, and the general public's awareness of genetic testing needs to be improved. Therefore, although clinicians are optimistic about newborn genetic screening, inappropriate interpretation of reports may cause distress to the patients and their families. Before implementing newborn genetic screening, it is essential to set necessary qualification requirements for medical units interpreting the reports and to provide standardized training for clinicians who will interpret the reports. Meanwhile, efforts are needed to increase public awareness of genome sequencing technology domestically.