Whole genome sequencing: developments and future perspectives


  • Dr Ngozi Edi-Osagie
  • Alice Tuff-Lacey
  • Dr David Bick
  • Dr Ellie Hay
  • Dr Claire Andersen
  • Professor Paul Dimitri
  • Professor Bill Newman

Date of Recording

January 20, 2023

Available Until

January 19, 2024

Webinar summary

Webinar summary

The use of genomic approaches, including whole genome sequencing (WGS), is rapidly evolving. The ever-reducing cost of WGS, as well as the increase in accessibility and availability of testing, has reinforced the widespread increase in genomics use in clinical practice.

Numerous government-led ambitions are in place to continue expanding the use of genomics following the success of the 100,000 Genomics Project, including the provision of the Genomic Medicine Services and the roll-out of the Genomics England-led Newborn Screening Programme.

The presentation from Genomics England highlighted developments and progress in the Newborn Genomes Programme, whilst a panel of senior clinicians provided expert reflections; including education and training, research, the importance of the patient and public voice, and wider issues.

Learning outcomes

Learning Outcomes:

1) Delegates will understand developments in the current national landscape for whole genome sequencing in newborns in England

2) Delegates will be aware of what the plans could mean for you and your teams in future

3) Delegates will actively consider the range of dimensions to whole genome sequencing of newborns, including education and training requirements, the importance of the patient voice, and the impact on research

Post-webinar evaluation form

We would be very grateful for your feedback on this webinar – the survey should take no longer than 3-4 minutes to complete. Thank you.

Questions and Answers

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.

Get involved and contact

Get involved and contact

Our ambition is to support our members, and children and young people and their families, to prepare for the requirement that paediatricians embed genomics into clinical practice. There are plenty of opportunities to get involved with the genomics programme at the College – find out about these opportunities.

For more information, read our frequently asked questions about genomics or contact the Research and Evidence Team at genomics@rcpch.ac.uk

Continued Professional Development (CPD)

We do not issue CPD certificates for webinars or podcasts, as we are unable to verify participation.

However, you are still able to record as a CPD activity as you normally would, detailing what you have learned and how the learning will benefit your practice.

When recording the activity, delegates should focus on the reflection and detail the following:

  • What did you learn?
  • What effect has/will the learning had/have on your current practice?
  • What further learning or action, if any, is needed as a result of the original learning activity?

If you have any questions, please contact the CPD team

If you use the RCPCH CPD Diary, you can click here to visit the diary and record your learning: Log your learning on the RCPCH CPD Diary


  • Dr Ngozi Edi-Osagie

    Officer for Genomics

    Royal College of Paediatrics and Child Health

  • Alice Tuff-Lacey

    Programme Lead

    Newborn Genomes Programme

  • Dr David Bick

    Principal Clinician

    Newborn Genomes Programme

  • Dr Ellie Hay

    Consultant in Clinical Genetics and Genomics

    Great Ormond Street Hospital

  • Dr Claire Andersen

    Scientific Communications Officer


  • Professor Paul Dimitri

    Vice President for Science and Research

    Royal College of Paediatrics and Child Health

  • Professor Bill Newman

    Professor of Translational Genomic Medicine

    University of Manchester

Found an issue? Please get in touch with us:

Email us at rcpchlearning@rcpch.ac.uk