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Genetics

In this section you will learn about genetics.

Genes are inherited from both parents and are required for growth and development.  But they can also increase the risk of having certain medical conditions.  Sometimes these cannot be predicted. 

Genetics is a complex subject to understand but basically: 

  • Inherited genetic disorders may be inherited if: 
    • Both parents are carriers of a condition eg sickle cell anaemia or thalassemia, cystic fibrosis 
    • Where one parent carries a genetic mutation eg tuberous sclerosis or Huntingdon’s disease 
    • Where the mutation is specifically on the X chromosome eg Duchenne muscular dystrophy or haemophilia 
  • Non inherited conditions include chromosome disorders when there are too many or too few chromosomes.  eg Down’s syndrome, Edwards’ syndrome 
  • And there are many spontaneous genetic mutations which are unpredictable. 

It is recommended that couples are referred for counselling about genetic testing if either partner’s family has an inherited health condition or for couples in a consanguineous relationship. 

If either partner is a known carrier of a genetic disorder or high risk of being a carrier it is advisable to be tested so that an understanding of the risk of passing on a blood disorder to a child may be.  Further information Screening for Sickle Cell and Thalassaemia

Ways to support women and their partners in their decision making are available on the Pregnancy planning tool Conception and your baby’s genes.

OPTIONAL

Are you aware of any population groups where you work who are at higher risk for genetic problems? 

  • Are you aware of any population groups where you work who are at higher risk for genetic problems? 
  • Have you had any training on genetics or is there some that would be helpful to access?
  • Have you had any discussions on genetic risks with patients and reflected on how complex the discussions may be? 
OPTIONAL