Genetic abnormalities at birth
Genetic abnormalities, where an altered gene leads to the development of a particular condition, affect many of the world’s population. Around 3% of babies are born with a genetic abnormality.
Advances in technology have meant that genetic testing, which leads to the accurate diagnosis of germline genetic mutations and somatic mutations, is one of the world’s fastest-growing industries.
Germline genetic mutation is the term used to describe a change to DNA that is inherited from the egg and sperm during fertilisation.
A somatic mutation occurs any time after fertilisation.
Cancer is an example of a somatic mutation. The prevalence of many types of cancer continues to grow as the population ages, and around 25% of the population will develop cancer at some point during their lifetime.
Having children later in life and genetic abnormalities
There are now 500 million people in the world aged 65 or older. By the time we reach 2050, people within this age bracket could make up around 16% of the global population.
The growing trend of women choosing to have children later in life correlates closely with the global increase in children being born with genetic abnormalities. In Spain, for example, 35% of babies are born to mothers who are 35 and older.
The risk of giving birth to a child with genetic abnormalities increases significantly beyond the age of 35. This is because DNA mutations are more likely to happen as a woman ages. Furthermore, females are born with all their eggs present, so the genetic material in each egg cell may degrade the longer they remain unfertilised.
Why genetic testing?
The global rate of congenital anomalies in live newborns is estimated to be around 3%.
In 2013, around 632,000 deaths were attributable to congenital anomalies – World Health Organisation said the majority of these were as a result of genetic disorders.
Intellectual disabilities, which affect 1-2% of the population, may also occur due to genetic errors that are either inherited or occur during the development of the embryo. Around 2 million new cases per year or an estimated 100 million over the next 50 years of babies will be born with such genetic abnormalities.
The need to diagnose genetic mutations has therefore made accessible genetic testing a necessity.
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