Testing for genetic disease
Routine antenatal screening for several genetic diseases – including sickle cell disease, Down’s syndrome and thalassaemia – is offered to all pregnant women, usually via blood tests. Newborn babies are also routinely screened for further genetic diseases such as phenylketonuria (PKU).
If you or your partner has a family history of a genetic disease, you will be offered more detailed genetic screening and counselling as part of standard NHS care, usually before pregnancy, to assess the potential risk to your children.
If you do not have a family history of genetic disease, but are concerned about the potential risk to your children, you can opt to pay for private genetic screening tests. These can include:
Pre-conception genetic testing of yourself and your partner to assess whether one or both of you is a carrier of a genetic disease, usually via a blood or saliva test
Pre-implantation genetic testing of the embryo such as during IVF,
Ante-natal tests such as a nuchal translucency scan to assess the risk of Down’s syndrome
Tests for children with suspected genetic diseases
If you already have children who are showing signs of a genetic disease, genetic tests can help establish a diagnosis. If you have healthy children, but are concerned that they may have inherited a genetic disease that may affect them later in life, again it may be possible to pay for private genetic testing. However, for some genetic disorders that are incurable, such as Huntington Disease, genetic testing of a healthy child creates several dilemmas. You may be advised to defer testing until your child is old enough to play a part in the decision-making process. If you are considering testing your healthy child for a genetic disease, genetic counseling may help you to make the right decision.
Some commercial companies offer genetic tests that claim to offer predictions regarding future health by screening for genes that cause diseases with a genetic component such as cancer or heart disease. However, many of these tests have limited accuracy and are not always endorsed by the medical profession in either the NHS or the private medical sector. It is important to seek specialist medical advice if you are considering genetic screening for your child.
Caring for children with genetic diseases
Early screening for genetic diseases can help prepare you for caring for your child when symptoms arise. Cystic Fibrosis (CF) is a genetic disease involving abnormally thick mucus in the lungs, which causes breathing problems and puts children at high risk of infections. CF cannot be cured, but treating infections can help prevent lung damage, and physiotherapy and other private therapies can help with breathing problems.
Another type of genetic disease, Duchenne muscular dystrophy (DMD), is a rare but severe form of muscular dystrophy that leads to rapid muscle degeneration eventually leading to complete paralysis. It generally only affects males, but females can be carriers of the genetic defect. Treatment for DMD is usually based on steroids to increase strength and ward off symptoms, physical therapy, and orthopaedic aids such as leg braces and wheelchairs. Research is ongoing into stem cell and gene therapy for genetic diseases, offering some hope for more effective treatments in the future.