Research Seminar: Harriet Etheredge, Dalia Kasperaviciute & Joanna Ziff

This month the research seminar will focus on the Generation Study, a landmark UK initiative exploring the feasibility, impact, and ethics of using whole-genome sequencing in newborn screening. 

This month's talks from the Predisposition and Screening community are:

Early Results from the Generation Study

• A comprehensive programme overview of the Generation Study
• Uncover the early results of the programme involving over 10,000 participants
• Reflecting on the learnings and challenges during the first year of the study

Dalia Kasperaviciute, Scientific Director for Human Genomics, Genomics England

Evaluating the Generation Study 

• An overview of Genomics England’s approach to developing the evidence base for newborn whole genome sequencing
• “What we are doing, what we are supporting others to do, and where evidence gaps remain”
• Gain an understanding of the approach to evaluation activities to build the evidence base for possible future commissioning

Joanna Ziff, Evaluation & Performance Lead on the Generation Study, Genomics England

The Lifetime Genome: A Whirlwind Tour

• Investigating the risks, benefits and potential uses of reanalysing a person’s genome periodically over their lifetime
• Discussing what the lifetime genome might be, examples of use cases and the main risks to anticipate
• Uncover the initial findings of The Generation Study and a brief insight into next steps

Harriet Etheredge, Ethics Lead - Newborns, Genomics England

About the speakers:

• Dalia Kasperaviciute, Scientific Director for Human Genomics, Genomics England

Dalia joined Genomics England in 2017 and leads a team of scientists focused on translating advances in human genetics into genomic analysis and interpretation strategies. She leads the development and oversight of the genome analysis pipeline for the Generation Study, which aims to screen 100,000 newborns for treatable conditions, and drives efforts to improve diagnostic approaches for patients with rare conditions within the NHS Genomic Medicine Service.

She holds a PhD in human genetics from Vilnius University, where she studied the genomic history of European populations while also working as a medical geneticist at the university hospital. She completed postdoctoral research in neurogenetics at the UCL Institute of Neurology and Duke University, investigating the genetics of rare diseases such as ALS and drug-resistant epilepsies, as well as normal cognition. Before joining Genomics England, she contributed to several high-throughput sequencing projects at Imperial College London.

• Joanna Ziff, Evaluation & Performance Lead on the Generation Study, Genomics England

Dr Joanna Ziff is the evaluation and performance lead on the Generation Study at Genomics England. She has 10 years’ experience working in health care policy and analysis at the Department of Health and Social Care, Cabinet Office and No. 10 and has a PhD in genomics.

• Harriet Etheredge, Ethics Lead - Newborns, Genomics England

Dr Harriet Etheredge (PhD) is a medical bioethicist and health communication specialist based in the United Kingdom. Harriet began her career as a transplant ethicist in South Africa, and experienced first-hand the significant complexity of providing tertiary medical services in contexts with substantial resource constraints. Harriet has been involved in some world-first studies, particularly in liver transplantation and HIV. She has also done substantial transplant policy and advocacy work, foregrounding patient centeredness and transparency as core ethical values. Harriet currently works for Genomics England, a company that provides genomic interpretation and data services to the National Health Service in England. Harriet has also worked across the African continent, on projects in genomics, data governance and organ transplantation. Her global experience extends to Europe, where she works in an advisory capacity. Harriet is a widely published academic author and speaker and her work has been recognized internationally.

About the research seminars:

The Genomics England Research Seminar series is a season of events held to demonstrate the best research from Genomics England and our partners. They started in October 2018, and are monthly, free-to-attend talks presented by Research Network members on the latest research being performed using data from the National Genomic Research Library.

The seminars will be held on the last Tuesday of each month at 2 to 3pm. These will be online sessions open to everyone and free to attend, we hope to have representation from across the Research Network and 100,000 Genomes Project participants as well as anyone else who would be interested in joining.

For updates on the seminars including announcements and speakers please follow the Genomics England twitter page. You can watch all previous Research Seminars on the Genomics England YouTube channel.

If you would like to present your research from the Genomics England Research Environment at one of these events please get in touch with the Research Management team at [email protected] and if you intend to publish on this research please include this so that we can publicise your paper on our Publications page.