This issue can be partially tackled by storing genomic data securely in trusted research environments (TREs). TREs allow approved researchers from authorised organisations a safe way to access, store, and analyse sensitive data remotely. Federated databases,which facilitate secure data access from multiple sources without the need for data movement- where data could be vulnerable to interception, have also emerged as a promising solution for safely sharing anonymised genomic data.

Federated technology can advance these efforts and securely connect genomic data across distributed sites. An example is the MatchMaker Exchange (MME) tool. MME provides researchers with a systematic approach to discovering rare disease-causing genes by developing a federated network of connected databases. This allows them to search across previously siloed databases, and securely access data about the potential genetic underpinnings of undiagnosed rare diseases.

It is key that genomic data is standardised to ensure interoperability. This is especially important when data has come from disparate sources; data must be harmonised before the datasets can be combined and used in further analysis. ETL (Extraction, Transfer, Loading) pipelines can automatically standardise the ingested data to a common format.

ELSI research questions should be fully integrated into initial studies to help researchers fully understand the potential impact of screening for a new condition on newborns and families, and contribute to key policy decisions. Here, The role of genetic counsellors is important in helping support affected families understand diagnoses. Initiatives should also involve patients and the public in a meaningful and effective way to ensure the methodology and research is focused on public benefit. The advantages of this are two-fold: firstly by explaining the benefits of genomic screening and secondly, mitigating the potential negative medical or social implications of screening whilst hearing parents’ concerns.

Genomic screening is more expensive than some routine diagnostic screens; however, the potential benefits of the approach massively outweigh those compared to routine diagnostics. Furthermore, ELSI research questions making it an increasingly viable option for population-level screening programmes.

There are existing criteria for deciding which diseases to include in national newborn screening initiatives. Experts in ethics, law, clinical genetics should continue to be consulted on this matter and this is a topic for ongoing debate. However, to ensure this decision is made robustly and transparently, Genomics England, as an example, has used a public consultation as part of this process.

Computational tools can help here, for example, machine-learning techniques to integrate such annotations into pathogenicity scores. Another example is Seqr, a web-based tool that enables different filters to be applied to genomic sequencing data in seq to aid variant calling and disease diagnosis. These types of computational tools are guided by a set of guidelines produced by the American College of Medical Genetics and Genomics (ACMG) , developed to aid the interpretation of disease-causing sequence variants.

Carefully managed and meaningful patient and public involvement and engagement (PPIE) should be done to ensure hard-to-reach groups are not excluded from screening efforts. If newborn genomic screening is universally available, for free, then it should, in theory, help increase diversity and minimise disparities in healthcare. Beyond PPIE, substantial funding is also required to support these efforts. This was highlighted recently by the World Health organisation which has stressed the need to expand access to genomic sequencing and the associated technologies world wide to low- and middle-income countries (LMICs).