Ethical Issues in Multiplex Genetic Testing

Abstract

Abstract As a result of technological advancements, multiplex (or multigene) genetic tests are increasingly available both inside and outside the clinical setting. Multiplex genetic tests include: expanded carrier screening (ECS), preimplantation genetic testing (PGT), prenatal genetic diagnosis (PND), newborn screening (NBS), predictive genetic testing, diagnostic genetic testing, whole‐genome sequencing (WGS) and whole‐exome sequencing (WES). Many of these tests include dozens – even hundreds – of genes that are associated with a wide range of genetic conditions. While multiplex genetic tests have significant advantages over more targeted approaches, they also raise ethical concerns, related to informed consent, the implications of genetic selection and uncertainty. Outside the clinical setting, direct‐to‐consumer (DTC) genetic testing also raises a set of ethical concerns, including some that are specific to the DTC model. Key Concepts Multiplex genetic testing has important advantages over targeted approaches, including efficiency, cost‐effectiveness and the detection of unanticipated genetic risks. There are different types of multiplex genetic tests. Multiplex genetic testing raises ethical concerns about informed consent, the implications of genetic selection and uncertainty. Obtaining informed consent to multiplex genetic testing is challenging because multiplex tests often analyse genes that are associated with a range of diseases, penetrance estimates and medical management strategies. Genetic testing, particularly of embryos and fetuses, raises ethical concerns about genetic selection for or against certain traits. Multiplex genetic tests can lead to significant uncertainty for patients interested in learning about their own genetic risks or those of their current or future children. Multiplex genetic testing is increasingly available through direct‐to‐consumer (DTC) platforms, raising unique ethical questions about the nature of informed consent outside the clinical setting. In order to realise the promise of multiplex genetic tests, there is a need to continue studying the risks and benefits of different types of tests by collecting and evaluating outcome data.