February 29, 2024

Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini

43 minutes

ONCE UPON A GENE - EPISODE 219

Amanda Pichini is a genetic counselor from Genomics England, here to share their initiatives and mission.

EPISODE HIGHLIGHTS

What is your role at Genomics England and how did your career develop?

I work at Genomics England as the Director of Clinical Implementation and I'm responsible for the strategic clinical leadership for our products and services, ensuring research, diagnostics and clinical programs we support are in line with the latest healthcare standards and research. Prior to joining Genomics England, I worked as a genetic counselor, a profession I was interested in for a long time. When I started studying biology, I was keen to do something that allowed me to communicate and speak to people, but still be immersed in science. While my role isn't patient-facing now, I bring my genetic counselor skills to understand the complexities of genetics in healthcare and how we communicate to various audiences to design and deliver our programs.

What are the current initiatives at Genomics England?

Since the 100,000 Genomes Project, we are focused on working with the NHS to provide genome sequencing as a standard clinical test. We've worked hard to ensure healthcare professionals understand how to help families through the process, manage their expectations and potential results of genome sequencing. We're also focused on looking at different types of sequencing technology we can use to enhance the testing and care for cancer patients, and also a newborn genomes program which is part of a large-scale national research study called the Generation Study. This study will sequence the genomes of 100,000 newborn babies with a goal of understanding if sequencing in the newborn period can help identify rare conditions earlier in life, with the ideal goal of improving the quality of life and outcomes for the babies identified as having a rare condition.

Can you talk more about the newborn screening?

Like in the US, we do a heel prick when a baby is about 5 days old at the parent's discretion. We recommend it as public health and to look for rare conditions that could be treated if found early. We currently test for 9 conditions, but the Generation Study is an optional screening in addition to standard newborn screening. It will be available to parents at different hospital sites, a baby doesn't already need to be ill and parents don't have to have a known history to participate. At birth, a small amount of cord blood will be taken and that sample used to carry out genome sequencing and to look for around 200 rare conditions that we feel would have an early intervention option if found through screening. We will follow up on every test, with much closer monitoring and follow-up where a condition may be positive.

LINKS AND RESOURCES MENTIONED

Genomics England

https://www.genomicsengland.co.uk/

Genetic Alliance UK

https://geneticalliance.org.uk/

Genetic Alliance US

https://geneticalliance.org/

CONNECT WITH EFFIE PARKS

Website

https://effieparks.com/

Twitter

https://twitter.com/OnceUponAGene