The effect of psychosocial information resources on the psychological impact of genetic testing for patients

Genet Test Mol Biomarkers. 2010 Dec;14(6):807-15. Epub 2010 Oct 12. Living without a diagnosis: the parental experience. Lewis C, Skirton H, Jones R.J Genet Couns. 2011 Feb;20(1):80-97. Epub 2010 Sep 29. Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing? Lewis C, Skirton H, Jones R.The effect of psychosocial information resources on the psychological impact of genetic testing for patients Background: The genetic testing process has been shown to have a profound psychosocial impact on patients and families, yet research suggests that there is a lack of practical and helpful psychosocial information written to support decision-making. Ideally, this should be available for use both before and after genetic testing and should be easily accessed through genetic clinics. The development of pre-written leaflets or on-line resources which draw on the experiences and advice of families who have been through similar experiences, and are readily available through genetic clinics, might be one way of helping families make necessary adjustments. Aim: The aim of this study was to develop information resources for a) people undergoing carrier testing, and b) parents of children with undiagnosed conditions, and to pilot the use of these resources with service users. Methods: A systematic literature review was conducted to identify key themes to inform the content of the resources. To build on these findings, in-depth interviews were conducted with 11 people who had undergone carrier testing and 14 parents of children without a diagnosis. Interview data were analysed using the grounded theory method. A grey literature search of existing patient information was also conducted. These three phases informed the content of information resources. The development process also included input from genetic specialists, patient group representatives and interviewees. Finally, a pilot study was conducted through three genetic centres to assess the feasibility of a study testing the use of the resources. Findings: The participants in this study were striving for empowerment: carriers sought reproductive empowerment; parents developed empowerment strategies in order to advocate for their child. Moreover, a theory named ‘reconstructing the meaning of being a parent’ was constructed to describe the experience of parenting a child for whom no clear care pathway existed. The importance of providing timely information was identified as being a key factor in supporting parents during their search for a diagnosis. A new model was built to summarise the overarching experience of participants in this study. Conclusions: Empowerment was identified as a dynamic and multi-faceted construct. Health professionals and support groups can help facilitate the empowerment process through the provision of timely psychosocial information. This is particularly important in an age when patients are expected to take greater control than ever before over decisions affecting their healthcare

Exploring prenatal testing preferences among US pregnant individuals: A discrete choice experiment

Although there are numerous benefits to diagnostic prenatal testing, such as fetal exome sequencing, there are also consequences, including the possibility of receiving variants of uncertain significance or identifying secondary findings. In this study, we utilized a survey-based discrete choice experiment to elicit the preferences of pregnant people in Northern California for hypothetical prenatal genomic tests. Pregnant individuals were invited to complete the survey through advertisements on social media. Five test attributes were studied: likelihood of getting a result, time taken to receive results, who explains results, reporting of uncertain results, and reporting of secondary findings. The survey also gathered information about the participants' demographics, current and past pregnancies, and tolerance of uncertainty using the IUS-12 scale. Participants were eligible if they were female, currently 24 or more weeks pregnant, and able to read/write enough English or Spanish to complete an online survey. Overall, participants (n = 56) preferred the option of having a prenatal test over not having a prenatal test (p < 0.01) and had substantially higher preferences for tests with the highest likelihood of getting a result (p < 0.01). There were also positive preferences for tests that reported secondary findings (p = 0.01) and those where results were returned by a genetic specialist (vs. their prenatal provider) (p = 0.04). These findings can be used to guide conversations between pregnant individuals and genetics specialists, such as genetic counselors, as they weigh the pros and cons of diagnostic prenatal testing options

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

Objectives: Genome sequencing is poised to be incorporated into clinical care for diagnoses of rare diseases and some cancers in many parts of the world. Healthcare professionals are key stakeholders in the clinical delivery of genome sequencing-based services. Our aim was to explore views of healthcare professionals with experience of offering genome sequencing via the 100 000 Genomes Project. Design: Interview study using thematic analysis. Setting: Four National Health Service hospitals in London. Participants: Twenty-three healthcare professionals (five genetic clinicians and eight non-genetic clinicians (all consultants), and 10 ‘consenters’ from a range of backgrounds) involved in identifying or consenting patients for the 100 000 Genomes Project. Results: Most participants expressed positive attitudes towards genome sequencing in terms of improved ability to diagnose rare diseases, but many also expressed concerns, with some believing its superiority over exome sequencing had not yet been demonstrated, or worrying that non-genetic clinicians are inadequately prepared to discuss genome sequencing results with patients. Several emphasised additional evidence about utility of genome sequencing in terms of both main and secondary findings is needed. Most felt non-genetic clinicians could support patients during consent, as long as they have appropriate training and support from genetic teams. Many stated genetics experts will play a vital role in training and supporting non-genetic clinicians in variant interpretation and results delivery, particularly for more complex cases. Conclusions: Healthcare professionals responsible for delivering clinical genome sequencing have largely positive views about the potential for genome sequencing to improve diagnostic yield, but also significant concerns about practical aspects of offering these tests. Non-genetic clinicians delivering genome sequencing require guidance and support. Additional empirical evidence is needed to inform policy and practice, including how genome compares to exome sequencing; utility of secondary findings; training, in particular of non-genetic health professionals; and mechanisms whereby genetics teams can offer appropriate support to their non-genetics colleagues

The disequilibrium of hope: A grounded theory analysis of parents' experiences of receiving a "no primary finding" result from genome sequencing

Genome sequencing (GS) has the potential to reduce the "diagnostic odyssey" that many parents of children with rare undiagnosed conditions experience. While much research has considered the impact of receiving a diagnostic result, research has rarely focused solely on the impact of receiving a "no primary finding" (NPF) result. This study aimed to investigate the experience of parents of children with rare and undiagnosed conditions following an NPF result from GS. Nine parents whose child had an NPF result from GS were recruited through the social media platform of the charity SWAN (Syndromes Without A Name) UK. Semi-structured telephone interviews were conducted, transcribed verbatim, and analyzed using grounded theory. Analysis led to the emergence of two main themes. The first theme "Striving to Solve the Unsolved Puzzle" concerned the experience of striving to end the "diagnostic odyssey." The second theme "Navigating Hope, Lost then Found" plots the trajectory of hope raised by the promise of a new technology, dashed by the NPF, and the eventual return of small and distant hope for the future. Taken together, these themes allowed for a proposed theory: "The Disequilibrium of Hope," which highlights the dynamic and modifiable experience of hope participants experience in their GS journey. These results suggest GS can be an emotional rollercoaster for parents. While hope plays an important role in coping with the day-to-day life of living with a rare disease, careful management of expectations from GS is important during pre-test counseling, and continued follow-up and support are needed beyond result disclosure. An understanding of the disappointment and distress caused by an NPF result is valuable for healthcare professionals in this field to ensure counseling can be tailored. Further research should consider how to support parents after an NPF result

A Citizen Science Approach to Identifying Indoor Environmental Barriers to Optimal Health for Under 5s Experiencing Homelessness in Temporary Accommodation

The first five years of life are critical for optimal growth, health, and cognitive development. Adverse childhood experiences, including experiencing homelessness, can be a risk factor for multiple health issues and developmental challenges. There is a dearth of data collected with and by families with children under age five living in temporary accommodation due to experiencing homelessness (U5TA) describing indoor environmental barriers that prevent U5TA from achieving and maintaining optimal health. The aim of this study was to address this current gap using a citizen science approach. Fifteen participants, who were mothers of U5TA living in a deprived area of London, and the lead researcher collected data in late 2019/early 2020 using: (I) a housing survey conducted via a mobile app; (II) house visits; and (III) collaborative meetings. Data were analyzed using thematic analysis. Key themes included: overcrowding/shared facilities, dampness/mold growth, poor/inadequate kitchen/toilet facilities, infestations/vermin, structural problems/disrepair, unsafe electrics, excessively cold temperatures, and unsafe surfaces that risk causing trips/falls, with all participants experiencing multiple concurrent indoor environmental barriers. The citizen science approach was successfully used to collect meaningful data demonstrating the need for child-centered housing policies meeting the needs of current and future generations of families living in TA

Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study

Abstract: 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

Does an educational video for aneuploidy screening improve informed choice among pregnant women? A randomised controlled trial

BACKGROUND: Poor knowledge and the lack of deliberation have been cited as reasons for women making uninformed choices about aneuploidy screening. Adequate pre-test counselling is of particular importance where non-invasive prenatal screening (NIPS) is being increasingly offered as a primary screening test. DESIGN: Women attending the antenatal clinic with a singleton pregnancy below 14 weeks were randomised to receive routine counselling or the intervention-a 16-min educational video on aneuploidy screening before their consult. The primary outcome, rate of informed choice, was assessed using an adapted multidimensional measure of informed choice questionnaire, where informed choice was defined as good knowledge and value-consistent behaviour. Secondary outcomes included informed choice with deliberation, decisional conflict and anxiety. RESULTS: Two hundred and eighty-six women were recruited. 69.8% of women in the intervention group made an informed choice compared with 53.6% in the control group (Risk Ratio [RR] 1.30, p = 0.014). A significantly higher number of women in the intervention group had good knowledge compared to controls (81% vs. 60.9%; RR 1.33, p = 0.001). Decisional conflict did not differ between groups, but women in the intervention group had higher anxiety scores (p < 0.001). CONCLUSION: The study intervention was effective in helping women make informed choice. Qualitative studies to determine the reason for increased anxiety are needed. TRIAL REGISTRATION: Trial registry: ClinicalTrials.gov; Identifier: NCT05492981

Development and mixed-methods evaluation of an online animation for young people about genome sequencing

Abstract: Children and young people with rare and inherited diseases will be significant beneficiaries of genome sequencing. However, most educational resources are developed for adults. To address this gap in informational resources, we have co-designed, developed and evaluated an educational resource about genome sequencing for young people. The first animation explains what a genome is, genomic variation and genome sequencing (“My Genome Sequence”: http://bit.ly/mygenomesequence), the second focuses on the limitations and uncertainties of genome sequencing (“My Genome Sequence part 2”: http://bit.ly/mygenomesequence2). In total, 554 school pupils (11–15 years) took part in the quantitative evaluation. Mean objective knowledge increased from before to after watching one or both animations (4.24 vs 7.60 respectively; t = 32.16, p < 0.001). Self-rated awareness and understanding of the words ‘genome’ and ‘genome sequencing’ increased significantly after watching the animation. Most pupils felt they understood the benefits of sequencing after watching one (75.4%) or both animations (76.6%). Only 17.3% felt they understood the limitations and uncertainties after watching the first, however this was higher among those watching both (58.5%, p < 0.001). Twelve young people, 14 parents and 3 health professionals consenting in the 100,000 Genomes Project reported that the animation was clear and engaging, eased concerns about the process and empowered young people to take an active role in decision-making. To increase accessibility, subtitles in other languages could be added, and the script could be made available in a leaflet format for those that do not have internet access. Future research could focus on formally evaluating the animations in a clinical setting

Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study

In this mixed methods study, a survey and in-depth interviews were used to explore whether decision regret and the psychological impact of receiving genome sequencing (GS) results differed between parents and patients, and between those who received a genetic diagnosis and those who did not. Participants (n = 77) completed a survey that included the Decisional Regret Scale (DRS) and an adaptation of the Multidimensional Impact of Cancer Risk Assessment (MICRA) at least 12 months after consenting for GS for rare disease diagnosis in the 100,000 Genomes Project. Survey participants were invited to take part in an interview and 39 agreed; 12 with a diagnosis, 5 with variants of uncertain significance, and 19 with no pathogenic findings identified. Both survey and interview findings indicated that decision regret was low. DRS scores revealed no differences in levels of regret between parents and patients, or between those with a diagnosis and those without. Though MICRA scores indicated minimal evidence of negative psychological impacts of receiving GS results, subscale analysis revealed greater distress and uncertainty for parents compared to patients. Receiving a diagnosis was found not to influence MICRA scores, supporting interview findings of both positive and negative emotional and psychological impacts irrespective of a genetic diagnosis. Our findings have implications for policy and practice as GS is integrated into the UK and worldwide; notably, that expectation-setting is critical when offering GS, and that post-test counselling is important regardless of the GS result received, with parents perhaps needing additional emotional support

Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project

We used cross-sectional surveys to compare the knowledge, attitudes, and decision regret of participants who had consented for genome sequencing (GS) for rare disease diagnosis in the 100,000 Genomes Project (100kGP) across two timepoints (at the time of consenting for GS (T1) and 12-18 months later (T2)). At T1, participants (n = 504) completed a survey that included measures of general knowledge of GS ("Knowledge of Genome Sequencing" (KOGS)), specific knowledge of GS and attitudes towards GS ("General attitudes" and "Specific attitudes"). At T2, participants (n = 296) completed these same assessments (apart from the specific knowledge scale) together with an assessment of decision regret towards GS ("Decisional Regret Scale"). At 12-18 months after consenting for GS, participants' basic knowledge of GS had remained stable. General knowledge of GS varied across topics; concepts underlying more general information about genetics were better understood than the technical details of genomic testing. Attitudes towards GS at T2 were generally positive, and feelings towards GS (both positive and negative) remained unchanged. However, those who were more positive about the test at the outset had greater specific knowledge (as opposed to general knowledge) of GS. Finally, although the majority of participants indicated feeling little regret towards undergoing GS, those with low positive attitude and high negative attitude about GS at T1 reported greater decision regret at T2. Careful assessment of patient knowledge about and attitudes towards GS at the time of offering testing is crucial for supporting informed decision making and mitigating later regret