North Bristol NHS Trust (NBT) is taking part the Generation Study, a national research study that will sequence the genomes of 100,000 newborn babies to test for more than 200 rare and treatable genetic conditions.
Identifying these conditions shortly after a baby is born, rather than when symptoms might appear later in childhood, means families can receive support, monitoring, and treatment much earlier.
Early, effective intervention can help to prevent longer term health problems associated with certain conditions, keeping children out of hospital, and helping them live healthier lives.
The Generation Study, led by Genomics England in partnership with NHS England, will see parents offered whole genome sequencing using blood samples taken from the umbilical cord shortly after birth.
In Bristol, Southmead Hospital (North Bristol NHS Trust) and St Michael’s Hospital (University Hospitals Bristol and Weston NHS Foundation Trust) are among more than 20 hospitals nationally taking part in the study, with more being added.
Women planning to give birth at home may also take part in the study.
Expectant parents will be informed about the Generation study during pregnancy, and if interested, a research midwife will have a detailed conversation with them to decide if they want to take part. Taking part is voluntary and free.
Soon after birth, an NHS doctor, nurse, or midwife will check with parents that they are still happy for their baby to be tested, and a blood sample will be taken and sent to a laboratory for whole genome sequencing.
Results are then reviewed by NHS genomic scientists. The aim is to share results with parents within 28 days if a condition is suspected, or within a few months if no conditions are suspected.
If a newborn baby is identified as having a treatable childhood condition through the genome sequencing, families and carers will be provided with further NHS testing to confirm a diagnosis and will receive ongoing support and treatment from the NHS.
Mary Alvarez from the Maternity Research Team at North Bristol NHS Trust says:
We are thrilled to be able to offer this study to parents expecting to have their baby at home and in birthing locations within the NBT area. Study information will be available throughout pregnancy from all areas of the maternity department at Southmead hospital, downloadable from the maternity notes, and from community staff to help parents decide if the study is right for them. The research team will be available Monday to Friday by phone or online to answer queries and help parents to take part if they wish to.
The study will also gather genomic data for wider research purposes, allowing a better understanding of rare genetic conditions. It will also potentially pave the way for new diagnostic tools and treatments and improvements in existing therapies.
In addition, the Generation Study will explore the risks and benefits of storing an individual’s genome over their lifetime. This could allow it to be reanalysed later in life if needed, enabling access to new developments in genomics.
For further information, visit the Generation Study website.