Carrier screening in the age of genomic medicine

Abstract

Carrier screening, whether targeted or expanded, allows individuals to consider their range of reproductive options. Ultimately, the goal of genetic screening is to provide individuals with meaningful information that they can use to guide pregnancy planning based on their personal values. Ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for prepregnancy and prenatal carrier screening. Because all of these are acceptable strategies, each obstetrician-gynecologist or other health care provider or practice should establish a standard approach that is consistently offered to and discussed with each patient, ideally before pregnancy. Carrier screening will not identify all individuals who are at risk of the screened conditions. Patients should be counseled regarding the residual risk with any test result. Screening for any condition is optional and, after counseling, a patient may decline any or all carrier screening. If a patient requests a screening strategy other than the one used by the obstetrician-gynecologist or other health care provider, the requested test should be made available to her after counseling on its limitations, benefits, and alternatives. Expanded carrier screening does not replace previous risk-based screening recommendations. The determination of the appropriate screening approach for any individual patient should be based on the patient's family history and personal values after counseling. Referral to an obstetrician-gynecologist or other health care provider with genetics expertise should be considered for risk assessment, evaluation, and consideration of diagnostic testing as indicated for any patient with a family history of a genetic condition or concern for a genetic diagnosis.