Advantages and disadvantages of carrier screening for autosomal recessive hereditary diseases

Doing carrier screening for autosomal recessive hereditary diseases:

• tells a person whether or not they are a carrier of a variant in a gene associated with a disease targeted by the test;
• reassures a large majority of people who wonder if they are at risk of having a child with a disease targeted by the tests;
• tells a small number of people who are planning a pregnancy if they have a possibility of having a child with a disease targeted by the tests;
• allows people to make free and informed decisions about reproductive options.

• Waiting and receiving the test results can be stressful experiences.
• The result can lead to difficult choices regarding the pregnancy plan or follow-up, especially when both partners carry a variant in the same gene associated with an autosomal recessive hereditary disease. They then have a one in four chance (25% probability) of having a child who has it.
• Doing carrier screening does not guarantee that a person will be safe from all autosomal recessive hereditary diseases. The tests are designed to identify certain diseases only. There is also a very slight chance that a person who receives a "non-carrier" result is still a carrier of another variant in one of the genes associated with an autosomal recessive hereditary disease targeted by the tests.