Q: Is there any work done on pharmacogenomic screening of the data? Is there a way to get involved?

Once the study begins, we do not anticipate feeding back pharmacogenomic results to participants and their parents. It is possible that researchers may wish to apply to access the National Genomic Research Library (NGRL) in order to undertake research that focuses on pharmacogenomics.

See details of research on Genomics England website.

Q: Is it possible to test the mother for the DNA variant putting babies at risk for gentamicin ototoxicity?

We are only genetically testing newborns, not mothers. Previous research called the PALOH study involved rapid testing of babies after birth to identify those at increased risk of gentamicin ototoxicity, using a different genetic technology that looks for a specific variant with results available within hours.

This has now been recommended by NICE.

Q: If this is implemented nationwide in the future, does that mean that SCID screening will phase out, or do you think they will go hand in hand?

The Newborn Genomes Programme’s study will run alongside established screening programmes. The study will not replace those programmes. The evidence generated by the study will be used by the National Screening Committee to inform their future policies with respect to newborn screening.

Q: Given the amount of pressure that NHS is currently under, including the clinical genetics services, how will the analysis and communication of results of the Newborn WGS screening back to parents be handled and how will that affect the waiting times for other NHS patients who are already waiting for genetic testing results? 

Where genome sequencing indicates that a baby could have a genetic condition, families will be called by a clinician who has knowledge of the study, and the condition that the baby could have. Our team is also working with clinicians to establish a network of clinicians who will take on this role. We will also provide funding for roles to support coordination of results.

We have also set up a clinical assurance group with NHS England, which is reviewing the potential conditions and ensuring there are pathways and resources in place to support every condition that we include in our study.

With respect to waiting times, where participating babies’ results indicate they have a condition, it is likely that they will present with that condition at a later date (i.e., if they were not participating in our study, the condition would still present). If babies with a potential genetic condition are found earlier, our study could mean that the burden of diagnostic odysseys will be mitigated through identifying babies with pathogenic variants in the gene that cause the condition sooner, before phenotypic expression occurs. This will be one of the key things that is assessed when the study is evaluated.

Q: How will they reduce the time to get results from 8-9 months currently to 2-3weeks?

Our study will include a defined list of genes and variants that newborns will be tested for. This is a different process to the current diagnostic approach, which looks for any variants that might be connected to the child’s condition.
Our analysis of babies’ genomes will therefore be able to be streamlined to focus on those genes and variants only, which means that a shorter turnaround time for results can be realised. The exact turnaround time for results will be one of the factors that we evaluate throughout the study.

Q: Are the NHS Genomic Medicine Service (GMS) laboratories going to be analysing and reporting all of the tests and do you think this will delay routine WGS analysis even further?

Throughout the development of our study, we have been cognisant of the need to avoid delays to routine WGS analysis. We are working with NHS England and representatives from the Genomic Laboratory Hubs (GLHs) to understand the best models for delivering our study without impacting routine clinical care.

Q: Why are we focusing on testing Newborns when children with a phenotype with potential diagnoses are waiting over 12 months for diagnostic WGS?

It is our aim that our study will contribute to understanding the optimal approach to diagnosing and treating rare genetic conditions in babies and young children. Depending on our findings, our study might mean that, in the future, diagnostic WGS may face less of a burden – i.e., by identifying babies with a gene or variant sooner, before phenotypic expression occurs.

Q: This is such an important project with implications across the UK and wider, and I just wondered how professionals and parents in areas of the UK, where health is a devolved responsibility, will be involved?
Q: Why are Genomics England and Genomics Wales working separately? What are the benefits of that to our patients and their families

The Newborn Genomes Programme’s study has been funded to be delivered in England. However, the Newborn Genomes Programme team have held discussions with devolved nations to share our approach. Those conversations will continue throughout the duration of our study.

Q: Would you be able to share your decision aid and the scenarios used in it to inform parents?

This is currently a work-in-progress. In the next few months, Genomics England’s Newborn Genomes Programme will work with parents to refine it. Details of our approach to recruitment for the study will be added to the Newborn Genomes Programme’s website once the study begins.