For your interest?:The ethical acceptability of using non-invasive prenatal testing to test 'purely for information'

Non-invasive prenatal testing (NIPT) is an emerging form of prenatal genetic testing that provides information about the genetic constitution of a foetus without the risk of pregnancy loss as a direct result of the test procedure. As with other prenatal tests, NIPT can help to make a decision about termination of pregnancy, plan contingencies for birth or prepare to raise a child with a genetic condition. NIPT can also be used by women and couples to test purely ‘for information’. Here, no particular action is envisaged following the test; it is instead entirely motivated by an interest in the result. The fact that NIPT can be performed without posing a risk to the pregnancy could give rise to an increase in such requests. In this paper, we examine the ethical aspects of using NIPT ‘purely for information,’ including the competing interests of the prospective parents and the future child, and the acceptability of testing for ‘frivolous’ reasons. Drawing on several clinical scenarios, we claim that arguments about testing children for genetic conditions are relevant to this debate. In addition, we raise ethical concerns over the potential for objectification of the child. We conclude that, in most cases, using NIPT to test for adult-onset conditions, carrier status or non-serious traits presenting in childhood would be unacceptable

Ethical and legal issues in mitochondrial transfer

The US National Academies of Science, Engineering and Medicine recently provided conditional endorsement for mitochondrial transfer. While its approach is more conservative in some respects than that of the United Kingdom (which passed its own regulations in 2015 ), it marks a significant policy development for a potentially large implementer of this emerging intervention. In this perspective, we consider some of the ethical and legal aspects of these policy responses

Advanced cancer patient preferences for receiving molecular profiling results

Objective: This study aimed to discern preferences for receiving somatic molecular profiling (MP) results in cancer patients who have given consent to undergo testing. Methods: We conducted a mixed‐methods study to explore patients’ views on which MP results they would like to receive and why. Advanced cancer patients (n=1299) completed questionnaires after giving consent to participate in a parent genomics study and undergoing MP. A subset of patients (n=20) participated in qualitative interviews. Results: Almost all (96%) participants were interested in receiving results which would direct cancer treatment (i.e. were actionable). A smaller majority wanted to access results which were not actionable (64%) or were variants of unknown significance (60%). Most (86%) were interested in finding out about germline findings, though not as a priority. Themes identified in interview data were: 1) Cancer is the focus; 2) Trust in clinicians; and 3) Respect for a right not to know. Conclusions: The majority of advanced cancer patients undergoing MP prioritised results which would lead to treatment options. They trusted their oncologists to help them navigate the results return process. While there was interest in knowing about other results, this was a lesser priority. Nevertheless, given high levels of interest in receiving all results, ethical aspects of not providing uninformative results requires further research, including a consideration of patient rationales for desiring this information and what health professionals can and should do to support patients in the absence of meaningful information being available. This article is protected by copyright. All rights reserved

Cascade testing in Familial Hypercholesterolaemia: how should family members be contacted?

Cascade testing or screening provides an important mechanism for identifying people at risk of a genetic condition. For some autosomal dominant conditions, such as Familial Hpercholesterolaemia (FH), identifying relatives allows for significant health-affecting interventions to be administered, which can extend a person’s life expectancy significantly. However, cascade screening is not without ethical implications. In this paper, we examine one ethically contentious aspect of cascade screening programmes, namely the alternative methods by which relatives of a proband can be contacted. Should the proband be responsible for contacting his or her family members, or should the screening programme contact family members directly? We argue that direct contact is an ethically justifiable method of contact tracing in cascade screening for FH. Not only has this method of contact already been utilised without adverse effects, an examination of the ethical arguments against it shows these are unsubstantiated. We describe several criteria which, if met, will allow an appropriate balance to be struck between maximising the efficiency of family tracing and respecting the interests of probands and their relatives. Keywords Cascade genetic screening; cascade testing; confidentiality; autonomy; genetics; ethics; guidelines; familial hypercholesterolaemi

Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic.

Genome editing using clustered regularly interspersed short palindromic repeats (CRISPR) and CRISPR-associated proteins offers the potential to facilitate safe and effective treatment of genetic diseases refractory to other types of intervention. Here, we identify some of the major challenges for clinicians, regulators, and human research ethics committees in the clinical translation of CRISPR-mediated somatic cell therapy

ESHRE good practice recommendations for add- ons in reproductive medicine

The draft of the paper “ESHRE Good practice recommendations for add-ons in reproductive medicine” was published for public review for 4 weeks, between 1 November and 1 December 2022. This report summarizes all reviewers, their comments and the reply of the working group and is published on the ESHRE website as supporting documentation to the paper. During the stakeholder review, a total of 274 comments (including 24 duplicates) were received from 46 reviewers. Reviewers included professionals and representatives of donor-conceived offspring organisations. The comments were focussed on the content of the guideline (209 comments), language and style (31 comments), or were remarks that did not require a reply (10 comments). All comments to the language and format were checked and corrected where relevant. The comments to the content of the paper (n=209) were assessed by the working group and where relevant, adaptations were made in the paper (n=94; 45%). Adaptations included revisions and/or clarifications of the text, and amendments to the recommendations. For a number of comments, the working group considered them outside the scope of the paper or not appropriate/relevant (n=115; 55%).peer-reviewe

Consent to the publication of patient information: Incompetent patients may pose a problem

The BMJ ethics committee’s revised policy on consent to the publication of patient information is laudable, 1 but an important matter remains overlooked: publishing cases involving incompetent patients. Much can be learnt from these cases; be it highlighting clinical difficulties or drawing attention to neglected moral issues. But the guidelines as written may make it impossible to publish them. Imagine I wished to publish a case involving a traceable adult with learning disability who had requested genetic counselling. Turning to the guidelines, I would be required to obtain her consent before publication. However, obtaining written informed consent from adults with questionable competence could be difficult or exploitative, as they may lack the capacity to understand the implications of consent to publication. Furthermore, the exceptions listed under point 3 do not apply. Merely anonymising her information would be ethically problematic, as could drafting a fictional case “inspired” by the clinical encounter. Until the mental capacity bill becomes law, no one can provide consent on her behalf. How should we balance the value gained from publishing these cases with respecting the interests of the people involved?This article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014