Genetics and genomics for midwifery practice v2

1. Genetics and genomics - the basics

This module on Genetics and genomics for midwifery practice has been written for i-learn by the National Genetics Education and Development Centre and revised by Dr Simon Hettle, Lecturer in Biomedical Science and Genetic Modification Safety Officer at the University of the West of Scotland. It has been designed to help midwives develop a better understanding of genetics and genomics. 
 

Completion of this module will enable you to:

• understand your role in genetics and genomics
• refresh and/or enhance your knowledge
• consider the skills required to gain appropriate information from the families in your care
• reflect on various situations you might encounter in practice when these skills and knowledge will be required

 

1.1. Learning objectives

By the end of this session you should be able to:

• Demonstrate a knowledge of how genetic conditions occur and how they may be inherited within a family
• Describe your role in identifying those with a higher probability of having a genetic condition and how you would refer to specialist genetic services
• Appreciate how the use of genomic information is likely to impact on maternity care

The session assumes a basic level of knowledge about what genes are, how they work and basic definitions. It may be advisable to refresh your knowledge of the basics. Visit the Health Education England’s Genomics Education Programme website to review:

• Genes and inheritance
• Inheritance of genetic material
• What causes genetic conditions?

You may wish to consult the Genomics glossary.

1.2. Using i-folio to support your learning

i-folio is the RCM’s e-portfolio that members can access from anywhere providing they have Internet access. As you work through this course you can make notes in i-folio for future reference and use the i-folio reflective journal to reflect on your learning. Click the link for more information on using i-folio to support your learning.

2. Why is understanding genetics and genomics important for a midwife?

In your role as a midwife, a knowledge of genetics and inheritance is relevant throughout your practice, for example, when following a specialist care plan during delivery and examining and caring for a newborn. However, undertaking initial assessments in the early antenatal period is when most information gathering, recording and interpretation occur.

It is important to recognise individuals and families who have inherited conditions because their family members may be at an increased chance of developing the condition or of being a carrier. Some conditions are caused by chromosome anomalies and modern techniques can help us to understand their clinical implications. Other conditions are due to a combination of genetic changes which predispose a person to a condition. So, a midwife’s understanding of genetics and inheritance is important for the fetus, the mother and the wider family.

Genomic information is increasingly being used to understand the underlying basis of disease, to refine diagnoses, target treatment and diagnose infections. Midwives may therefore see families where previously unknown genetic disease has been identified, or where the cause of multiple fetal anomalies has been shown to be due to problems with several genes.

 

3. Where will you encounter genetics in your practice?

A significant part of the midwife’s role is recognising potential concerns, including recognition of families with, or with a potential to have, a genetic condition. As a midwife, you form good working relationships with women and their families and have unique opportunities to assist women and help them achieve the best outcome from their pregnancy.

As face-to-face time with women is limited, your skills of questioning and listening, together with a good working knowledge of genetics and genomics, will enable you to accurately assess families and be alerted to the possible presence of a genetic condition.

Once alerted to a potential genetic problem or risk, it is your responsibility to take appropriate action.

You may encounter genetics in your practice when caring for women in the antenatal, delivery or postnatal periods.

Question: When would you suspect that there could be a link to a genetic problem or a need for midwives to have knowledge of genomics? Select ALL of the following options that you believe to be correct.

A pregnant woman who is extremely obese attends your antenatal clinic. At an initial antenatal visit you learn that the pregnant woman and her partner are second cousins. You are caring for a newborn on the postnatal ward and note that a early heel prick test has been ordered for day one by the paediatrician. You work as a community midwife and your new caseload is in a geographical area where the population ancestry is mainly of African origin. Following attending a birth, you note when handling the newborn that there is little muscle tone and the baby is very floppy.