Posted: 21/09/2017
Jeans for Genes Day is the annual fundraising campaign for Genetic Disorders UK, the national charity that supports individuals and families affected by a genetic disorder. The money raised funds a variety of projects and support services.
A genetic disorder is a medical condition caused by one or more alterations to an individual’s genetic make-up. This can be due to changes in a single or a number of genes. Genetic disorders are inherited. They often affect individuals from birth, although may only manifest later in life. Some conditions, including cystic fibrosis, are inherited from both parents, whereas others, such as osteogenesis imperfecta or ‘brittle bone disease’, are inherited from a single parent.
There are currently more than 6000 diagnosed genetic disorders, with new disorders being identified every day. It is estimated that in the UK one in 25 children is born with a genetic disorder and more than half a million children and adults are currently living with a genetic disorder.
The purpose of the genetic test is to identify and diagnose a genetic disorder, and there are various tests which look for changes to the patient’s chromosomes or genes.
Genetic testing can bring important benefits, particularly to couples considering starting a family. They often request genetic testing to determine whether one parent (or both) is a carrier of a genetic condition and to clarify the chance of that condition being passed on to the child. The process allows couples to consider whether to conceive. Genetic testing can also be performed during pregnancy to determine whether a developing baby or embryo has a particular condition, and decide whether to carry on with the pregnancy.
The time to receive results from genetic tests varies but they are often available quickly so that parents can consider the results and make a decision promptly.
Arran Macleod, an associate in the clinical negligence team at Penningtons Manches, comments: “Genetic disorders can put a heavy emotional and financial strain on families due to the extra level of care that the child will require. Some parents, when told that their unborn child is likely to have severe disabilities due to a genetic disorder, may make the very difficult decision to not continue with the pregnancy.
“It is imperative that genetic testing is carried out properly, that the results are correctly interpreted and are available in a timely manner. If, however, a doctor fails to identify a genetic abnormality when they should, or fails to report the results to the parents in time, the parents may lose the opportunity to terminate the pregnancy. In such circumstances, they may have a claim to compensation for the additional costs of providing and caring for their disabled child. This is known as a wrongful birth claim.
“Accurate testing for genetic disorders during pregnancy is therefore of great importance. If you, or a family member, have any concerns about treatment you have received, please get in touch with our specialist team, who may be able to help.”
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