Opening Pandora's box?: ethical issues in prenatal whole genome and exome sequencing

Abstract

ObjectiveThe development of genomic approaches to prenatal testing such as whole genome and exome sequencing offers the potential for a better understanding of prenatal structural anomalies in the fetus and ultimately for improved patient care and more informed reproductive decision making. In addition to the scientific and clinical challenges of achieving this, the introduction of new reproductive technologies also presents a number of ethical problems. The successful and appropriate development and introduction of prenatal genomics into clinical practice require these problems to be identified, understood and carefully analysed in the development of models of good ethical practice.MethodWe conducted a critical review of the existing literature on ethical issues in prenatal genomics.ResultsWe identified and discussed five areas of particular concern: valid consent, management and feed‐back of information, responsibilities of health professionals, priority setting and resources and duties towards the future child.ConclusionThere is a need for further discussion of the issues we have outlined here, and we hope that this brief summary of ethical arguments in the literature encourages researchers, clinicians, patients and scientists to engage in further discussion of these and other important issues raised by prenatal genomics. © 2017 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel

“…Moreover, WES or WGS might be a good choice, especially for identifying novel genes for the condition, but in the prenatal context in particular, it highlights a number of practical and ethical issues . For example, performing WES/WGS always reveals incidental and secondary findings, which will cause significant anxiety and make decision‐making challenging and counselling arduous . Applying phenotype‐specific gene panels can reduce the chance of these unforeseen conditions …”

Ethical and counseling challenges in prenatal exome sequencing

“…In order to make informed decisions, and out of respect for a patient's reproductive autonomy, all patients diagnosed with a fetal anomaly should be offered genetic counseling and the option of genetic testing . Counseling for prenatal WES requires clear communication with detailed pretest and posttest counseling . Nondirective counseling is central to the prenatal genetic counseling process as providers aim to provide information to allow their patients to make decision based on their own set of beliefs, values, and goals .…”

“…While the ethical, legal, and social implications of exome sequencing in children and adults have been studied, little has been published on challenges unique to prenatal exome sequencing. Concerns regarding the need for appropriate consent, the complexity of genomic data, ongoing need for reanalysis, and challenges of interpreting results in a meaningful way for patients have been raised …”

Prenatal and preimplantation genetic diagnosis for single gene disorders: A population‐based study from 1977 to 2016

“…This complexity may be further compounded by the knowledge that one parent is at risk of developing the condition. After birth, other ethical issues arise, such as the timing of disclosure to the child, depriving the child of the right “not to know” their genetic status, and the unknown long‐term health implications of embryo biopsy . The preferential use of PGT‐M for adult onset conditions suggests that couples believe that testing at this stage creates fewer dilemmas than PNDx, and that discarding affected embryos is a morally acceptable trade‐off for avoiding late onset morbidity in their future child.…”