Many of us are carriers of inherited conditions and simply do not know it. Over 80% of children with inherited conditions are born to parents who aren’t aware they carry the variant. Many inherited conditions, such as Sickle Cell Disease (1) and Cystic Fibrosis (2), may have no family history on either parent's side. This happens because having just one copy of a mutation does not usually cause any symptoms, so many people are "carriers" for inherited conditions without ever knowing it. Almost all of these conditions have what is called "autosomal recessive inheritance" where an affected child has to inherit a copy of a gene with the disease-causing mutation from each parent. Hence, if two people who are carriers for the same condition have children together, each child has a 1 in 4 chance of being born with the condition.
Individually, inherited conditions may be rare. However, collectively, there is at least a 1 in 3 chance that you are a carrier of at least one of the tested conditions. This is much higher than the incidence of Down syndrome. Knowing your risk profile before or early in a pregnancy allows you to consider your options with time to make choice, together with your healthcare provider.
With Circle Family Planning, we help individuals identify their genetic risk for 155+ heritable genetic conditions and provide genetic counselling to help them understand their results and possible next steps with their partner.
(1) Sickle Cell Disease is an inherited blood disorder which affects a major component of red blood cells, hemoglobin, and results in red blood cells having a stiff crescent shape resembling a sickle. The sickled blood cells die prematurely, causing a person to feel weak and tired. These sickled cells can also get stuck in small blood vessels, blocking blood flow and causing serious medical complications such as tissue deterioration.
(2) Cystic Fibrosis is a severe condition that can affect different parts of the body such as lungs, bowel, pancreas etc. This disease is caused by a gene called CFTR. When CFTR does not function well due to genetic mutation, mucus can become thick and sticky clogging passages such as breathing airways and bowel. Healthy mucus is needed for clearing germs and with thick mucus, germs can get trapped. This can cause frequent lung infections and death in childhood or early adulthood.