The promising power and ethical considerations of newborn sequencing (inspired by the World Orphan Drug Congress USA)

Recently, our team was honoured to attend the World Orphan Drug Congress USA in Boston. The event brought together key stakeholders, experts, and industry leaders in the field of orphan drugs and rare diseases, and provided a platform for collaboration, knowledge sharing, and innovation in the pursuit of improved treatments for rare diseases. The Sano team enjoyed the insightful keynote presentations, interactive panel discussions, and valuable networking opportunities. 

During our participation in at WODC USA, newborn sequencing emerged as a key topic of discussion. We had an engaging conversation with a representative from Alexion involved in the BeginNGS program, which aims to conduct whole genome sequencing on newborns in the US and internationally. Fascinating talks on data federation, global harmonisation, and access to newborn sequencing prompted us to explore the latest trends and ethical implications surrounding this field. In this blog, we delve into these thought-provoking questions in detail.

What is newborn sequencing?

Newborn sequencing involves the analysis of an infant's genome, which provides a comprehensive snapshot of their genetic blueprint. This process involves reading the DNA code to identify variations, mutations, and potential disease-causing genetic alterations. By examining the genetic information of a newborn, healthcare professionals can gain valuable insights into the baby's genetic predispositions, including the likelihood of developing certain conditions or responding to specific treatments.

In the United Kingdom, a standardised heel prick blood test is conducted on newborns at approximately five days old, screening for nine specific rare health conditions like sickle cell disease, cystic fibrosis, and congenital hyperthyroidism. By comparison, in the United States, all states mandate newborn screenings for a broader range of genetic, metabolic, and developmental disorders, including phenylketonuria, sickle cell disease, critical congenital heart disease, and hearing loss, with the specific disorders tested varying by state. Each year, 5,000 babies in the US are identified as having a genetic condition through this screening. While genomic sequencing presents an expanded and advanced screening option compared to heel prick tests, it is not without its share of ethical and controversial considerations.

Trends in newborn sequencing

The latest trends in newborn sequencing are focused on expanding the scope of genetic information obtained from newborns, enhancing the precision and accuracy of genetic testing, and incorporating advanced technologies for data analysis and interpretation. 

Expanded screening panels: Newborn sequencing is moving towards more comprehensive screening panels, covering a broader range of genetic disorders, metabolic conditions, and developmental abnormalities. This allows for early detection of a wider spectrum of health issues, enabling timely interventions and personalised treatment plans. The Guardian Study in the US, which aims to test 100,000 babies for 250+ genetic conditions, and the Newborn Genome Programme, which will launch in the UK later this year and aims to test 200,000 babies for about 200 genetic conditions, are examples of this trend in action. 

Whole genome sequencing (WGS): Whole genome sequencing is gaining traction as a powerful tool in newborn sequencing. WGS provides a comprehensive analysis of an infant's entire genome, enabling the identification of genetic variants associated with a range of conditions. It offers unparalleled insight into a newborn's genetic makeup, paving the way for precise diagnosis and personalised medicine. Some studies are focused on using WGS to identify and prevent or treat conditions that would arise in the first five years of life.

Non-invasive approaches: Non-invasive prenatal testing (NIPT) techniques are being adapted for newborn sequencing, allowing for the detection of genetic abnormalities from maternal blood samples. These non-invasive approaches offer convenience and reduced risk, while still providing valuable genetic information. NIPT can be done as early as 10 weeks of pregnancy.

Technological advancements: Advancements in sequencing technologies and bioinformatics tools are driving improvements in newborn sequencing. The emergence of high-throughput sequencing platforms, coupled with enhanced data analysis techniques, allows for faster and more accurate processing of genetic information, facilitating more effective diagnoses and clinical decision-making.

Ethical implications

More extensive newborn genetic sequencing, including WGS, raises several ethical questions that need to be carefully considered. On one hand, it offers the potential for early detection of a wide range of genetic disorders, which can be critical to providing appropriate treatment as quickly as possible. It can also provide valuable insights into an individual's genetic predispositions, allowing for proactive healthcare management. However, concerns arise regarding issues such as the unpredictability of how certain gene variations will manifest, informed consent, the potential for genetic discrimination, and privacy.

Unpredictability: Chief critics of more extensive newborn sequencing note that the knowledge of a potential – but not guaranteed – health issue in the future can be detrimental to an individual, particularly if there are no preventative steps to take. A 2018 Hastings Report article noted: “Given the pragmatic challenges associated with determining what sequencing data mean for the health of individuals, the economic costs associated with interpreting and acting on such data, and the psychosocial costs of predicting one’s own or one’s child’s future life plans based on uncertain testing results, we think this enthusiasm [around genetic sequencing for newborns] deserves to be tempered.”

Informed consent: Of course, infants are not able to provide consent, so the decision to sequence an infant's genome is typically made by parents or legal guardians. Parents must understand the potential benefits, limitations, and risks associated with newborn sequencing to make informed decisions regarding their child's genetic privacy and the use of the data generated.

Genetic discrimination: The availability of extensive genetic information at an early stage of life may lead to potential genetic discrimination in areas such as insurance coverage, employment opportunities, or social stigmatisation. While some regulations are in place to prevent this, additional policies and legal protections are necessary to safeguard against genetic discrimination and ensure the responsible use of newborn sequencing data.

Data privacy and security: The storage, handling, and sharing of newborn sequencing data raise concerns about privacy and data security. What many view as current insufficient regulation means sensitive genetic information is vulnerable to unauthorised access or misuse. Strong regulations and policies are required to protect individuals' privacy and maintain data integrity.

Conclusion

Newborn sequencing presents a promising avenue for comprehensive genetic analysis and early disease detection, but as the field continues to evolve, it is crucial to be aware of the ethical implications associated with this technology. The unpredictability of certain gene variations, the need for informed consent from parents or legal guardians, concerns about potential genetic discrimination, and the importance of data privacy and security all require careful consideration. By addressing these ethical issues, we can harness the potential of newborn sequencing while upholding individual rights and ensuring responsible use of genetic information.

Please get in touch below if you’d like to discuss this or other critical topics in genetics with our team.