Non-invasive prenatal testing (NIPT) for aneuploidy is currently only available in the UK through the private sector outside of the research arena. As part of an implementation study in the UK ...National Health Service we conducted a mixed methods study to assess women's experience of being offered NIPT using validated measures of decisional conflict, decisional regret and anxiety. Clinical service preferences were also explored. Women with a Down syndrome screening risk >1:1000 were invited to take part in the study and offered NIPT, NIPT and invasive testing (for women with a risk above 1:150) or no further testing. A cross-sectional survey and semi-structured interviews were conducted at two time points; at the time of testing and one month following receipt of results (or equivalent for NIPT decliners). In total, 845 questionnaires and 81 interviews were analysed. The main motivation to accept NIPT was for reassurance (30.8%). Decisional conflict occurred in a minimal number of cases (3.8%), however, none of the participants experienced decisional regret. Around a third (29.9%) of women had elevated anxiety at the time of testing, including intermediate risk women who traditionally would not be offered further testing (54.4% high risk; 20.1% medium risk), a finding supported through the qualitative interviews where prolonged or additional anxiety was found to occur in some medium risk cases. Women were overwhelmingly positive about the opportunity to have a test that was procedurally safe, accurate, reduced the need for invasive testing and identified cases of Down syndrome that might otherwise have been missed. Reassurance was identified as the main motivator for accepting NIPT, particularly amongst medium risk women, with high risk women inclined to accept NIPT to inform decisions around invasive testing. The current turnaround time for test result was identified as a key limitation. All the women interviewed thought NIPT should be adopted as part of NHS clinical practice, with the majority favouring NIPT offered as a first-line test. Our study highlights the potential that NIPT has to positively impact women's experience of prenatal testing for aneuploidy.
BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic ciliopathy characterised by recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. It is a ...chronic condition with no curative therapy. The aim of this research was to understand the experiences of young people with PCD as they transition into adulthood and to adult healthcare services.MethodsAn interpretative phenomenological analytical method was applied. Semi-structured virtual interviews were conducted with three participants aged 18–24 years who were enrolled via PCD Support UK.ResultsFour interconnected group experiential themes were identified:The first theme was ‘Reconceptualising a stigmatised identity’. Participants demonstrated concealment of their condition and experienced both external and internalised stigmatisation. However, PCD was often reconceptualised as positive and contributory to their identities.The second theme was ‘Sharing the journey to independence’. Support was sought for and found in family, friends and others with shared experiences.The third theme was ‘Entering adulthood with newfound autonomy’. The transition to adulthood was marked by recognition of their own responsibility and the ability to make informed choices about their lives. They sought success in their chosen pathways and mitigated risks arising from their condition in realising these goals.The fourth theme was ‘Anticipating an uncertain future’. Participants shared a concerted yearning to succeed against a future that was entangled with uncertainty in view of their health.ConclusionTransition for young people with PCD is a complex and dynamic period marked by identity-formation, creating systems of support, and becoming an autonomous adult. They remained committed to their hopes and desires and refused to be ‘held back’. The improved understanding of these experiences can be applied to future practice that eases the process of transition, provides appropriate support, and identifies areas for further qualitative research.
Non-invasive prenatal testing (NIPT) using cell-free DNA for aneuploidy is a highly accurate screening test; however, concerns exist around the potential for routinisation of testing. The ...multidimensional measure of informed choice (MMIC) is a quantitative instrument developed to assess informed choice for Down syndrome screening (DSS). We have validated a modified MMIC for NIPT and measured informed choice among women offered NIPT in a public health service. The measure was distributed to women recruited across eight maternity units in the United Kingdom who had accepted DSS. Construct validity was assessed by simultaneously conducting qualitative interviews. Five hundred and eighty-five questionnaires were completed and 45 interviews conducted after blood-draw (or equivalent for those that declined NIPT). The measure demonstrated good internal consistency and internal validity. Results indicate the vast majority of women (89%) made an informed choice; 95% were judged to have good knowledge, 88% had a positive attitude and 92% had deliberated. Of the 11% judged to have made an uninformed choice, 55% had not deliberated, 41% had insufficient knowledge, and 19% had a negative attitude. Ethnicity (OR=2.78, P=0.003) and accepting NIPT (OR=16.05, P=0.021) were found to be significant predictors of informed choice. The high rate of informed choice is likely to reflect the importance placed on the provision of pre-test counselling in this study. It will be vital to ensure that this is maintained once NIPT is offered in routine clinical practice.
COVID-19 vaccines were key to controlling the pandemic and vaccination has been discussed extensively by the media and the public since 2020. We aimed to explore parents' attitudes towards routine ...childhood vaccination since COVID-19 and how the pandemic impacted their experiences of getting their child vaccinated. We used a mixed-methods approach-involving a questionnaire survey followed by focus groups. We partnered with The Mosaic Community Trust, an ethnic minority women's group based in a deprived area of North-West London, United Kingdom (UK) with historically low childhood vaccine uptake. Descriptive findings from the questionnaires were reported and chi-square analyses performed to examine differences by ethnicity. Thematic analysis of the free-text questionnaire responses and focus groups was undertaken, guided by the COM-B model of Capability, Opportunity, and Motivation. Between Jun-Oct 2022, 518 parents completed the questionnaire (25% from ethnic minorities). Between March-May 2023 we held four focus groups with 22 parents (45% from ethnic minorities). Most parents (>90%) thought routine childhood vaccines for children were important. Over a third (38%) of all parents reported having more questions about childhood vaccines since COVID-19, though among parents belonging to an ethnicity group other than white, 59% said they had more questions compared to those of any white ethnicity group (30%, (p = <0.0001)). Difficulties accessing vaccine appointments were commoner reasons for children's vaccinations being delayed than parents increased concerns about vaccines. Since COVID-19 some parents felt vaccinations were even more important, and a very small minority felt the pandemic had made them mistrust vaccinations. Following COVID-19, we found parents remain confident in childhood vaccines. However, some parents, particularly from ethnic minority groups may have more questions about childhood vaccines than pre-pandemic. Post COVID-19, to address declining vaccine uptake, parents need easy access to healthcare professionals to answer questions about childhood vaccinations.
The 100,000 Genomes Project is a hybrid clinical and research project in which patients and parents are offered genome sequencing for cancer and rare and inherited disease diagnosis; all participants ...receive their main findings and contribute their data for research, and are offered optional secondary findings. Our aim was to explore participating parents' attitudes towards and understanding of genome sequencing in this hybrid context. We conducted in-depth telephone interviews with 20 parents of children with rare diseases participating in the 100,000 Genomes Project. Parents were positive about contributing to research, although some had needed reassurance about data protections. Although most felt positive about secondary findings, some could not recall or misunderstood key aspects. Some were also concerned about potential emotional impact of results and a few raised concerns about life insurance implications, and the impact of future legal changes. Participants were generally positive about consent appointments, but several raised concerns about 'information overload' because of deciding about secondary findings at the same time as about the main diagnostic genome sequencing and data contribution. Additional information resources, particularly online tools, were highlighted as potentially useful ways of supporting the consent process. We conclude that parents offered genome sequencing as part of a national hybrid clinical and research project report many positive attitudes and experiences, but also concerns and misunderstandings. Further research is needed on how best to support informed consent, particularly about secondary findings. Additional resources such as online tools might usefully support future genome sequencing consent processes.
The use of genetics and genomics within a wide range of health-care settings requires health professionals to develop expertise to practise appropriately. There is a need for a common minimum ...standard of competence in genetics for health professionals in Europe but because of differences in professional education and regulation between European countries, setting curricula may not be practical. Core competences are used as a basis for health professional education in many fields and settings. An Expert Group working under the auspices of the EuroGentest project and European Society of Human Genetics Education Committee agreed that a pragmatic solution to the need to establish common standards for education and practice in genetic health care was to agree to a set of core competences that could apply across Europe. These were agreed through an exhaustive process of consultation with relevant health professionals and patient groups. Sets of competences for practitioners working in primary, secondary and tertiary care have been agreed and were approved by the European Society of Human Genetics. The competences provide an appropriate framework for genetics education of health professionals across national boundaries, and the suggested learning outcomes are available to guide development of curricula that are appropriate to the national context, educational system and health-care setting of the professional involved. Collaboration between individuals from many European countries and professions has resulted in an adaptable framework for both pre-registration and continuing professional education. This competence framework has the potential to improve the quality of genetic health care for patients globally.
Perinatal and paediatric autopsy rates are at historically low levels with declining uptake due to dislike of the invasiveness of the procedure, and religious objections particularly amongst Muslim ...and Jewish parents. Less invasive methods of autopsy including imaging with and without tissue sampling have been shown to be feasible alternatives. We sought to investigate attitudes including religious permissibility and potential uptake amongst members of the Muslim and Jewish communities in the United Kingdom.
Semi-structured interviews with religious and faith-based authorities (n = 16) and bereaved parents from the Jewish community (n = 3) as well as 10 focus groups with community members (60 Muslim participants and 16 Jewish participants) were conducted. Data were analysed using thematic analysis to identify key themes.
Muslim and Jewish religious and faith-based authorities agreed that non-invasive autopsy with imaging was religiously permissible because it did not require incisions or interference with the body. A minimally invasive approach was less acceptable as it still required incisions to the body, although in those circumstances where it was required by law it was more acceptable than a full autopsy. During focus group discussions with community members, the majority of participants indicated they would potentially consent to a non-invasive autopsy if the body could be returned for burial within 24 hours, or if a family had experienced multiple fetal/pregnancy losses and the information gained might be useful in future pregnancies. Minimally invasive autopsy was less acceptable but around half of participants might consent if a non-invasive autopsy was not suitable, with the exception of the Jewish Haredi community who unanimously stated they would decline this alternative.
Our research suggests less invasive autopsy offers a viable alternative to many Muslim and Jewish parents in the UK who currently decline a full autopsy. The findings may be of importance to other countries with significant Muslim and/or Jewish communities as well as to other religious communities where concerns around autopsy exist. Awareness-raising amongst religious leaders and community members will be important if these methods become routinely available.
The Genomic Medicine Service (GMS) was launched in 2018 in England to create a step-change in the use of genomics in the NHS, including offering whole genome sequencing (WGS) as part of routine care. ...In this qualitative study on pediatric rare disease diagnosis, we used an implementation science framework to identify enablers and barriers which have influenced rollout.
Semi-structured interviews were conducted with seven participants tasked with designing the GMS and 14 tasked with leading the implementation across the seven Genomic Medicine Service Alliances (GMSAs) and/or Genomic Laboratory Hubs (GLHs) between October 2021 and February 2022.
Overall, those involved in delivering the service strongly support its aims and ambitions. Challenges include: 1) concerns around the lack of trained and available workforce (clinicians and scientists) to seek consent from patients, interpret findings and communicate results; 2) the lack of a digital, coordinated infrastructure in place to support and standardize delivery with knock-on effects including onerous administrative aspects required to consent patients and order WGS tests; 3) that the "mainstreaming agenda", whilst considered important, encountered reluctance to become engaged from those who did not see it as a priority or viewed it as being politically rather than clinically driven; 4) the timelines and targets set for the GMS were perceived by some as too ambitious. Interviewees discussed local adaptations and strategies employed to address the various challenges they had encountered, including 1) capacity-building, 2) employing genomic associates and other support staff to support the consent and test ordering process, 3) having "genomic champions" embedded in mainstream services to impart knowledge and best practice, 4) enhancing collaboration between genetic and mainstream specialties, 5) building evaluation into the service and 6) co-creating services with patients and the public.
Our findings highlight the challenges of implementing system-wide change within a complex healthcare system. Local as well as national solutions can undoubtedly address many of these barriers over time.
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