Patients
Screening testing
Do I need to have carrier screening more than once?
In principle, screening testing only needs to be done once in your lifetime for you and your partner. However, if you were identified as a carrier and have a new partner, carrier testing is recommended for her/him. We also recommend new testing if the previous one with a negative result was performed over 5 years before.
What is a variant/mutation?
Genes are the parts of our DNA (or genetic material) that contain the instructions that the body uses to grow and develop from a single fertilized egg into a child and eventually an adult. Most genes come in pairs; we inherit one copy from each parent. Sometimes, there can be a change in the sequence of a gene, much like a spelling mistake. These genetic changes are called variants. Many variants do not cause any harm. However, some variants can cause the gene to no longer work as it should which can result in health problems.
A carrier refers to a person who has a disease-causing variant in one of two copies of a specific gene. The other copy of the gene does not have a disease-causing variant. This person is healthy and would not otherwise know they were a carrier.
What if I don’t have a family history of a genetic disease?
Proactive screening has become increasingly popular due to a growing realization that a significant number of people will have actionable results.
Scientific studies have shown that among healthy people, without a known family history, up to 15% had a finding that raised their risks for a treatable or preventable disease. Therefore, many healthy individuals may be at risk for carrying a disease-causing genetic variant without knowing it.
How will this type of genetic testing help me with my current and future healthcare?
The Blueprint Genetics Proactive Panels are for individuals who are interested in knowing whether they have an increased chance to have a genetic condition that makes them more likely to have cancer or heart disease where early diagnosis can improve the chances to live a long and healthy life (also known as medically actionable). Medically actionable means that specific interventions, preventative measures, or surveillance can be put in place which can improve the disease outcome.