What is cascade testing and why essential?

What is cascade testing and why essential?

• A. Testing for incidental findings
• B. Testing at-risk relatives after a pathogenic variant is identified; enables early detection and risk-reducing strategies
• C. Testing for proband only
• D. Testing newborns only

Answer: (B)

Cascade testing is the process of offering genetic testing to relatives of a person who carries a pathogenic variant. This approach is essential because it identifies other carriers who can benefit from targeted surveillance or risk-reducing interventions before cancer develops, enabling earlier detection and prevention. Relatives who do not carry the variant can avoid unnecessary testing and surveillance, while carriers can tailor strategies such as intensified screening, preventive surgeries, or chemoprevention. It also clarifies familial risk and informs reproductive planning and the testing needs of other family members. In short, cascade testing extends the impact of a single pathogenic finding by directing preventive care to the at-risk relatives.

Cascade testing is the process of offering genetic testing to relatives of a person who carries a pathogenic variant. This approach is essential because it identifies other carriers who can benefit from targeted surveillance or risk-reducing interventions before cancer develops, enabling earlier detection and prevention. Relatives who do not carry the variant can avoid unnecessary testing and surveillance, while carriers can tailor strategies such as intensified screening, preventive surgeries, or chemoprevention. It also clarifies familial risk and informs reproductive planning and the testing needs of other family members. In short, cascade testing extends the impact of a single pathogenic finding by directing preventive care to the at-risk relatives.