Event Review: From Niche to Necessity – Birth of the genomic midwife

Confronting the possibility your child has a genetic condition, or is at risk of one, is profoundly challenging whether the discussion is being had before or after birth. It was this universal truth that underpinned a webinar hosted by the NHS North West Genomic Medicine Service Alliance on 27 September, entitled: From niche to necessity: Birth of the genomic midwife. 

As the science editor of BioNews I have come across the idea of fertility midwives, and doulas specifically for pregnant trans people, yet this was the first time I had come across the concept of a genomic midwife. The idea is not a bad one, after all NHS midwives support pregnant women through screening for aneuploidy and provide them with information around other screening they may have, which could lead to the diagnosis of a genetic condition. Though the concept may be new, we already have midwives providing education to patients on genomics. 

This was well demonstrated when during the webinar, 100 percent of participants answered 'yes' to the poll question, 'Do you think that genomics is relevant to your area of practice?'. It was particularly impressive considering less than two thirds had previous genomic education, with 59 percent of participants citing a lack of time restricting them being able to access more. 

It was patient pathways that were the primary focus of this webinar, which featured an incredibly strong line-up, led by Professor Jacqueline Dunkley-Bent, chief midwifery officer for England and opened by Dr Naomi Chapman, director for the National Nursing and Midwifery Transformation Programme in Genomic Medicine, and Donna Kirwan, genomics midwifery lead at NHS England.

Naz Khan, NHS England clinical lead for the Equality, Ethnicity and Genetics Maternity Transformation Programme kicked off with her talk exploring how gaps in patient pathways, and stigma, can cause particular problems for consanguineous families who are at increased risk of genetic conditions. 

Focusing on the findings of the Born in Bradford study which ran from 2007-2010, she pointed out it had found 37 percent of Pakistani mothers were married to first cousins, but made the point that 90 percent of babies born to these parents are healthy (see BioNew 712). Not pulling any punches she stated 'poor coverage in the media has affected access to services'. She outlined the need for these families to have access to patient pathways that provide preconception genetic counselling, as well as services to diagnose, treat and educate throughout pregnancy, birth and parenthood. Khan told the audience her work had 'led me to consider: is the information better presented as individualised relative risk, rather than an education aimed at getting people to have an understanding of Mendelian inheritance.'

Echoing these sentiments were Denise Barnes, lead midwife and Angela Lightfoot, a midwife from the North East and Yorkshire Genomic Medicine Service Alliance Fetal Genomics Transformation Project who explained how their own work had led them to map the different patient pathways families may experience. They hoped that by mapping the different routes patients might take towards discovering their child has a genetic condition, they could identify earlier opportunities to provide genomic counselling. 

Using a single case study they explained how a couple who were made aware of an abnormality of the bowel at a routine scan, might go on to discover their child had cystic fibrosis, for example. 'You can't underestimate the huge emotional impact, the feelings of guilt or blame, particularly when there is a genetic factor identified,' said Lightfoot.

She then highlighted how the nature of pregnancy itself is time-limited, and this needs to be considered when developing patient pathways to provide access to education, counselling and diagnosis. Barnes then pointed to the fact that genomics has advanced faster than the questions asked at the booking in appointment at eight weeks, and proposed changes could be made there, for example. 

The scope of the webinar was impressive, with all people present clearly understanding the work that needs to be done by different departments and professionals in the NHS to improve outcomes. Whole genome sequencing of newborns was introduced by Amanda Pichini, clinical lead for genetic counselling at Genomics England, tipping the scope of the webinar into paediatrics. It was clear much effort had been made by speakers to understand the scope and implications of recent genomic advances for midwifery, but I couldn't help but wonder how long it will take for the many good ideas voiced to become a reality for patients in an underfunded and understaffed NHS and maternity service. 

My doom and gloom wasn't shared by those hosting the webinar however, and I particularly appreciated how the event made clear much of this work was just the beginning of a potentially promising period for midwives and their patients. 

While this was indeed a 'niche' webinar, I felt that any people working with pregnant women and babies would have come away with a great deal of information that could help them navigate the growing relevance of genomics in this area of medicine.