For US healthcare professionals only
Home Resources

FAMILY

CASCADE TESTING

Once a patient is diagnosed, cascade testing is recommended to identify other possible cases in their family1,2

Cascade testing is the systematic process of genetically testing at-risk relatives of a newly diagnosed patient with Fabry disease.1,2 Cascade testing leads to the diagnosis of an average of five family members with Fabry disease following the diagnosis of one patient.2

A positive test allows newly diagnosed patients to manage their disease manifestations.
A negative test can release relatives from unnecessary worry.

A website, the Fabry Family Tree, is available to help patients diagnosed with Fabry disease and their family members understand the inheritance of Fabry disease and evaluate their risk of having the disease. Patients can build a family tree online and determine whether a family member may share the disease-causing variant.  

A doctor sitting with a patient in a bright office, discussing findings

Genetic counseling provides essential support to patients and families during genetic testing3,4

Genetic counseling should be recommended to patients when considering genetic testing. Counseling will explain the associated risks and benefits, as well as the characteristics and information provided by the recommended tests.4

Key purposes of genetic counseling3,4

Inform patients about Fabry disease3,4

  • Explain X-linked inheritance
  • Explain differences in the testing algorithm for males and females
  • Discuss available genetic testing options

Support cascade testing3,4

  • Emphasize the importance of genetic testing to identify at-risk family members
  • Use pedigree analysis to identify family members suitable for cascade testing

Provide emotional and psychosocial support3,4

  • Support patients and families in managing emotions associated with genetic testing and genetic conditions
  • Discuss the economic, social, disability, employment, and life insurance impacts of a rare, progressive, genetic disorder

Guide reproductive counseling3,4

  • Offer counseling throughout the reproductive cycle to discuss inheritance risks and screening options (eg, preconception testing, prenatal testing, and newborn screening)
  • Support the patient throughout the reproductive decision-making process, especially with respect to connecting families with support groups and resources

Find a genetic counselor at the National Society of Genetic Counselors or the American Board of Genetic Counseling.

Learn about managing Fabry

References: 1. Effraimidis G, Rasmussen ÅK, Dunoe M, et al. Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience. PLoS One. 2022;17(11):e0277767. 2. Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns. 2008;17(1):79-83. 3. Ortiz A, Germain DP, Desnick RJ, et al. Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab. 2018;123(4):416-427. 4. Laney DA, Bennett RL, Clarke V, et al. Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2013;22(5):555-564.