Carrier ScreeningAlgorithm Carrier screening is most effective for

Carrier Screening-Algorithm • • Carrier screening is most effective for reproductive decision-making when offered in a pre-conception setting. The conditions screened have an autosomal recessive or X-linked inheritance pattern. Carrier Screening* Offer to All *Limitations: • Carrier screening is not an all-inclusive test. • It looks for certain mutations in specific genes associated with specific conditions. • There is a residual risk to be a carrier for the conditions screened if the test returns with a low risk result. Ethnicity specific (via ACMG, ACOG guidelines) (via ACOG, ACMG guidelines) Fragile X syndrome Cystic Fibrosis Spinal Muscular Atrophy If the following is present: Family history of intellectual disability inherited through female relatives (X-linked pattern of inheritance) Personal or family history of premature ovarian failure (<40 yrs) Family history of later onset tremor/ataxia Caucasian/ African/African American Asian/Indian Mixed European/ Biracial Ashkenazi Jewish (Begin testing with Jewish partner) French Canadian / Cajun If patient desires expanded carrier screen OR Family history of a genetic condition Mediterranean Middle Eastern Hb electrophoresis for hemoglobinopathies (fragile X associated tremor and ataxia) If Testing is Positive: Refer to genetic counseling for explanation of risk and potential testing of partner. Cystic fibrosis AND Spinal muscular atrophy Ashkenazi Jewish specific carrier panel Main 4: Tay-Sachs, Canavan disease, Familial dysautonomia/, Cystic fibrosis Optional: Bloom syndrome, Familial hyperinsulinism, Fanconi anemia, Gaucher disease, Glycogen storage disease type I, Joubert syndrome, Maple syrup urine disease, Mucolipidosis type IV, Niemann–Pick disease, Usher syndrome If Testing is Low Risk: Discuss the residual risk for being a carrier of the conditions tested. Tay-Sachs disease Refer to genetic counseling for explanation and coordination of testing