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Analysis

It’s in the genes

21 January, 2014

It’s in the genes

Candy Cooley introduces a new online resource to support midwives’ understanding of genetic and genomic information.
Midwives magazine: Issue 1 :: 2014

Candy Cooley introduces a new online resource to support midwives’ understanding of genetic and genomic information.


Genes Shutterstock

Family history is considered a key component of the maternity assessment as it provides information regarding the risk of inherited conditions and adverse pregnancy outcomes. In the UK, midwives routinely perform maternity risk assessments during the first antenatal appointment, one component of which involves asking about both parents’ medical history.

How this information is used has been a cause for concern in some situations. A National Patient Safety Agency rapid response report entitled Keeping newborn babies with a family history of MCADD alive in the first hours and days of life was issued in October 2011 to reduce neonatal death associated with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The report was produced in response to the death of two babies where, in both cases, antenatal assessment had identified a risk of MCADD. However, no action plan was created to ensure they received adequate nutrition in the first few days of life.

There were six similar ‘near-misses’ identified within the report period. Discussions with midwives revealed that they knew MCADD was an inherited condition and that testing was part of the national screening programme carried out at five days, but they did not realise the implications for high-risk babies and the need for intervention before the screening period.
Genetics and screening of the newborn has been considered a key focus within midwifery education for many years (Newton and Farndon, 2013). A competence-based framework for midwives and nurses in genetics was developed in 2003 (Kirk et al, 2003) and the revised 2011 document has underpinned the inclusion of genetics in midwifery curricula. However, evidence gathered at the RCM Annual Conference 2012 indicated that, while students and new graduates attended genetic lectures, this did not necessarily lead to them feeling confident when talking to parents and families.

Experienced midwives indicated that they often didn’t remember having genetic education in their training. They also stated that, while they regularly talked to parents-to-be about inherited conditions, they were not always confident in their knowledge and might simply refer them to a screening midwife.

The conference highlighted a need for continuing professional development in genetics and genomics. As a result, the RCM i-learn team worked with the NHS National Genetics and Genomics Education Centre to develop an online education resource.

The ‘Genetics and genomics for midwifery practice’ tool is designed to support midwives’ understanding of the important role genetic and genomic information can play in their clinical practice. It focuses on the practical, ‘must-know’ knowledge that they can put to immediate use in their day-to-day work.

The premise of this learning programme is that midwives do not need to have an in-depth knowledge of the science behind genetics and genomics but should remember the three As.

The three As:
► Be Alert to family members giving them information, which may suggest that the child has, or is at a higher probability of having, a genetic condition
Ask suitable questions to get relevant information, including appropriate information about the family’s health history
Action this information, which may include reassurance, follow-up or referral.


The first section of the module uses three case studies on beta-thalassaemia, myotonic dystrophy and haemophilia A to explain single gene disorders. The module provides tips for taking a detailed genetic family history, including recording relationships and medical information that may be important in assessing an individual’s risk of developing a genetic condition. It also gives the midwife information on how to identify different modes of genetic inheritance and the clinical clues that might indicate an inherited condition in a family. There is also clinical information about conditions inherited via the same inheritance pattern.

The next section considers some of the chromosomal conditions that may affect the pregnancy or the baby, such as Down’s syndrome. It explores how chromosomal conditions can present as fetal abnormalities, which may be the cause of a history of multiple miscarriages in the family.

The final section covers multifactoral conditions caused by interactions between genes and the environment, and how these may impact on maternal health. It also briefly considers how information from the genome is being used in refining diagnosis, individualising care and predicting a person’s reaction to a drug.

Each section focuses on the actions that a midwife needs to consider to ensure that families have received the most appropriate information, treatment and follow-up. A self-assessment quiz at the end enables midwives to add to their CPD points.

The NHS National Genetics and Genomic Education Centre is developing further online modules, which will focus on specific conditions that may affect the clinical care of the mother and newborn. There will also be a module that considers how genomic information might be used in obstetric practice. This will explore how families might access genomic information, for example through personal ‘over-the-counter’ testing or by private, ‘cell-free fetal DNA’ testing, for single gene disorders. These resources will aim to ensure that health professionals feel confident when talking to individuals about these reports and issues.



Genetics

Genetics and genomics - the basics

What is generic material?
Humans have about 23,000 genes, which are arranged in linear order on chromosomes
► Each chromosome is one long molecule of DNA and contains hundreds of genes
► The bulk of a cell’s DNA is found in its nucleus and, together with the DNA in the mitochondria, this genetic material is the human genome.



Candy Cooley
Head of education, NHS National Genetics and Genomics Education Centre


► To access the ‘Genetics and genomics for midwifery practice’ module, click here.
► A range of other resources can be found here.


References

Newton R, Farndon P. (2013) Genomics in healthcare education: a review of national curricula. NHS NGEDC: Birmingham.

Kirk M, McDonald K, Anstey S, Longley M. (2003) Fit for practice in the genetics era. A competence-based education framework for nurses, midwives and health visitors. See: genomics.research.southwales.ac.uk/media/files/documents/2006-09-29/Final_Report_-_pdf.pdf (accessed 14 January 2014).





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