title: Growing complexity of (expanded) carrier screening: Direct-to-consumer, physician-mediated, and clinic-based offers.
abstract: Since the introduction of out-of-hospital health-related genetic tests more than a decade ago, the landscape of genetic testing services has grown in complexity. Although initially most genetic tests for health purposes were offered as direct-to-consumer services, that is, without the mediation of a medical professional, currently many commercial providers require that their tests be ordered by a licensed physician. At the same time, some commercially developed health-related genetic tests are gaining support from the professional medical community and are finding their way into clinical practice. Therefore, we differentiated between three types of genetic testing offers: direct-to-consumer, physician-mediated, and clinic-based genetic testing. Expanded carrier screening tests for recessive disorders are currently available through all the three models of genetic testing. Herein, we review the present landscape of expanded carrier screening offers by highlighting the distinct issues associated with each of the three types of genetic testing.
authors.affiliation: Centre for Biomedical Ethics and Law, University of Leuven, Belgium.
authors.forename: Davit
authors.initials: D
authors.lastname: Chokoshvili
authors.affiliation: Centre for Biomedical Ethics and Law, University of Leuven, Belgium.
authors.forename: Danya F
authors.initials: DF
authors.lastname: Vears
authors.affiliation: Centre for Biomedical Ethics and Law, University of Leuven, Belgium. Electronic address: pascal.borry@kuleuven.be.
authors.forename: Pascal
authors.initials: P
authors.lastname: Borry
mesh_terms: D000067108:Direct-To-Consumer Screening and Testing / Q000331:legislation & jurisprudence / Q000379:methods*; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening / Q000331:legislation & jurisprudence / Q000379:methods* / Q000706:statistics & numerical data; D005817:Genetic Counseling; D005838:Genotype; D006801:Humans; D008297:Male
keywords: consumer genomics; direct-to-consumer; expanded carrier screening; genetic testing; reproductive genetics