title: What do patients prefer: informed consent models for genetic carrier testing.
abstract: The recent increased number of conditions for which patients can undergo genetic carrier testing raises the question of how best to obtain pre-test informed consent. Clinical approaches vary from a minimalist model to a model where patients are given detailed information about all conditions to be screened for. Few data exist as to patient preferences, or how information impacts decision-making. Eight high-literacy focus groups were conducted to assess the knowledge and preferences of pregnant patients and their male partners. Most groups indicated that some balance between details and brevity was optimal, recognizing that anxiety can occur when patients are provided with too much information and that the wide range of tests offered during pregnancy often led to confusion. Critical areas for the informed consent process included (1) details about the conditions and risk of being a carrier, (2) logistics of testing, (3) next steps if the test is positive, and (4) prognosis, options and resources if the child were to be affected with a disorder. It will be useful to develop model consent programs and prospectively assess their impact on informed consent and patient satisfaction, both when positive and negative results are received.
authors.affiliation: Department of Medicine, Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. k-ormond@northwestern.edu
authors.forename: K E
authors.initials: KE
authors.lastname: Ormond
authors.forename: M
authors.initials: M
authors.lastname: Iris
authors.forename: S
authors.initials: S
authors.lastname: Banuvar
authors.forename: J
authors.initials: J
authors.lastname: Minogue
authors.forename: G J
authors.initials: GJ
authors.lastname: Annas
authors.forename: S
authors.initials: S
authors.lastname: Elias
mesh_terms: D001364:Awareness; D002755:Choice Behavior; D005260:Female; D017144:Focus Groups; D006580:Genetic Carrier Screening; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000517:prevention & control / Q000523:psychology; D005820:Genetic Testing / Q000523:psychology*; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007231:Infant, Newborn; D007258:Informed Consent / Q000523:psychology*; D008423:Maternal Age; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000523:psychology