"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.

Genetic testing can provide valuable information to mitigate personal disease risk, but the use of genetic results in life insurance underwriting is known to deter many consumers from pursuing genetic testing. In 2019, following Australian Federal Parliamentary Inquiry recommendations, the Financial Services Council (FSC) introduced an industry-led partial moratorium, prohibiting life insurance companies from using genetic test results for policies up to $AUD500,000. We used semi-structured interviews to explore genetic test consumers' experiences and views about the FSC moratorium and the use of genetic results by life insurers. Individuals who participated in an online survey and agreed to be re-contacted to discuss the issue further were invited. Interviews were 20-30-min long, conducted via video conference, transcribed verbatim and analysed using inductive content analysis. Twenty-seven participants were interviewed. Despite the moratorium, concerns about genetic discrimination in life insurance were prevalent. Participants reported instances where life insurers did not consider risk mitigation when assessing risk for policies based on genetic results, contrary to legal requirements. Most participants felt that the moratorium provided inadequate protection against discrimination, and that government legislation regulating life insurers' use of genetic results is necessary. Many participants perceived the financial limits to be inadequate, given the cost-of-living in Australia. Our findings indicate that from the perspective of participants, the moratorium has not been effective in allaying fears about genetic discrimination or ensuring adequate access to life insurance products. Concern about genetic discrimination in life insurance remains prevalent in Australia.

"We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia.

A diagnosis of the X-linked condition Fragile X syndrome (FXS) in a child commonly reveals the mother's carrier status. Previous research focused on the genetic counseling process for the child and maternal family, despite calls for more research on the support needs of fathers. This study explored experiences and support needs of fathers at least 1 year after their child's FXS diagnosis to understand barriers and enablers and optimize health outcomes for the family. In-depth interviews were conducted with 11 fathers recruited through the Australian Genetics of Learning Disability Service and the Fragile X Association. Deidentified transcripts were analyzed using thematic analysis guided by an inductive approach. Four themes emerged: (1) making life easier through understanding-yesterday and today, (2) the path to a new normal-today and tomorrow, (3) seeking information and support, and (4) what men want. Fathers reported diagnostic odysseys, postdiagnostic grief, and challenges adjusting. They highlighted difficulties in understanding their child's unique behaviors and needs, responding to their partner's psychological support needs, planning for their child's future, and navigating complex health and disability systems. Participants suggested health professionals facilitate father-to-father support and psychological counseling. These findings highlight the unmet needs of fathers and suggest that a strengths-based approach is critically important given the recognized mental health impact.

Financial Advisers' and Key Informants' Perspectives on the Australian Industry-Led Moratorium on Genetic Tests in Life Insurance.

INTRODUCTION: Genetic discrimination (GD) in the context of life insurance is a perennial concern in Australia and internationally. To address such concerns in Australia, an industry self-regulated Moratorium on Genetic Tests in Life Insurance was introduced in 2019 to restrict life insurers from using genetic test results in underwriting for policies under certain limits. Financial advisers (FAs) are sometimes engaged by clients to provide financial advice and assist them to apply for life insurance. They are therefore well-placed to comment on GD and the operation of the Moratorium. Despite this, the financial advising sector in Australia has yet to be studied empirically with regards to GD and the Moratorium. This study aims to capture this perspective by reporting on interviews with the financial advising sector. METHODS: Ten semi-structured qualitative interviews were conducted with FAs and key informants and were analysed using thematic analysis. CONCLUSION(S): Participants' level of awareness and understanding of the Moratorium varied. Participants reported mixed views on the Moratorium's effectiveness, how it operates in practice, and perceived industry compliance. Participants also provided reflections on Australia's current approach to regulating GD, with most participants supporting the concept of industry self-regulation but identifying a need for this to be supplemented with external oversight and meaningful recourse mechanisms for consumers. Our results suggest that there is scope to increase FAs' awareness of GD, and that further research, consultation, and policy consideration are required to identify an optimal regulatory response to GD in Australia.

Parents' expectations, preferences, and recall of germline findings in a childhood cancer precision medicine trial.

BACKGROUND: Germline genome sequencing in childhood cancer precision medicine trials may reveal pathogenic or likely pathogenic variants in cancer predisposition genes in more than 10% of children. These findings can have implications for diagnosis, treatment, and the child's and family's future cancer risk. Understanding parents' perspectives of germline genome sequencing is critical to successful clinical implementation. METHODS: A total of 182 parents of 144 children (<18 years of age) with poor-prognosis cancers enrolled in the Precision Medicine for Children with Cancer trial completed a questionnaire at enrollment and after the return of their child's results, including clinically relevant germline findings (received by 13% of parents). Parents' expectations of germline genome sequencing, return of results preferences, and recall of results received were assessed. Forty-five parents (of 43 children) were interviewed in depth. RESULTS: At trial enrollment, most parents (63%) believed it was at least "somewhat likely" that their child would receive a clinically relevant germline finding. Almost all expressed a preference to receive a broad range of germline genomic findings, including variants of uncertain significance (88%). Some (29%) inaccurately recalled receiving a clinically relevant germline finding. Qualitatively, parents expressed confusion and uncertainty after the return of their child's genome sequencing results by their child's clinician. CONCLUSIONS: Many parents of children with poor-prognosis childhood cancer enrolled in a precision medicine trial expect their child may have an underlying cancer predisposition syndrome. They wish to receive a wide scope of information from germline genome sequencing but may feel confused by the reporting of trial results.

Community concerns about genetic discrimination in life insurance persist in Australia: A survey of consumers offered genetic testing.

Fears of genetic discrimination in life insurance continue to deter some Australians from genetic testing. In July 2019, the life insurance industry introduced a partial, self-regulated moratorium restricting the use of genetic results in underwriting, applicable to policies up to certain limits (eg AUD$500,000 for death cover).We administered an online survey to consumers who had taken, or been offered, clinical genetic testing for adult-onset conditions, to gather views and experiences about the moratorium and the use of genetic results in life insurance, including its regulation.Most respondents (n = 367) had undertaken a genetic test (89%), and had a positive test result (76%; n = 243/321). Almost 30% (n = 94/326) reported testing after 1 July 2019. Relatively few respondents reported knowing about the moratorium (16%; n = 54/340) or that use of genetic results in life insurance underwriting is legal (17%; n = 60/348). Only 4% (n = 14/350) consider this practice should be allowed. Some respondents reported ongoing difficulties accessing life insurance products, even after the moratorium. Further, discrimination concerns continue to affect some consumers' decision-making about having clinical testing and applying for life insurance products, despite the Moratorium being in place. Most respondents (88%; n = 298/340) support the introduction of legislation by the Australian government to regulate this issue.Despite the introduction of a partial moratorium in Australia, fears of genetic discrimination persist, and continue to deter people from genetic testing. Consumers overwhelmingly consider life insurers should not be allowed to use genetic results in underwriting, and that federal legislation is required to regulate this area.

Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study.

INTRODUCTION: Identifying an underlying germline cancer predisposition (CP) in a child with cancer has potentially significant implications for both the child and biological relatives. Cohort studies indicate that 10%-15% of paediatric cancer patients carry germline pathogenic or likely pathogenic variants in cancer predisposition genes, but many of these patients do not meet current clinical criteria for genetic testing. This suggests broad tumour agnostic germline testing may benefit paediatric cancer patients. However, the utility and psychosocial impact of this approach remain unknown. We hypothesise that an approach involving trio whole-genome germline sequencing (trio WGS) will identify children and families with an underlying CP in a timely fashion, that the trio design will streamline cancer risk counselling to at-risk relatives if CP was inherited, and that trio testing will not have a negative psychosocial impact on families. METHOD AND ANALYSIS: To test this, we present the Cancer PREDisposition In Childhood by Trio sequencing study (PREDICT). This study will assess the clinical utility of trio WGS to identify CP in unselected patients with cancer 21 years or younger in New South Wales, Australia. PREDICT will perform analysis of biological parents to determine heritability and will examine the psychosocial impact of this trio sequencing approach. PREDICT also includes a broad genomics research programme to identify new candidate genes associated with childhood cancer risk. ETHICS AND DISSEMINATION: By evaluating the feasibility, utility and psychosocial impact of trio WGS to identify CP in paediatric cancer, PREDICT will inform how such comprehensive testing can be incorporated into a standard of care at diagnosis for all childhood cancer patients. TRIAL REGISTRATION NUMBER: NCT04903782.

Health professionals' role in the transfer of mosaic embryos after preimplantation genetic testing for aneuploidies.

RESEARCH QUESTION: What are health professionals' clinical practices, views and self-rated competencies regarding the transfer of mosaic embryos? DESIGN: This was a cross-sectional study using surveys. RESULTS: Data were collected from the Royal Australian and New Zealand College of Obstetricians and Gynaecologists and the Fertility Society of Australia and New Zealand. Ninety-five responses were analysed and reported. The results show that most health professionals (n = 62) discussed the transfer of mosaic embryos for different reasons and raised concerns regarding various risks. Although many health professionals were unsure whether mosaic embryos should be transferred, they were more inclined to encourage transfer if the scenario involved segmental losses compared with mosaicism involving duplication of the entire chromosome (i.e. trisomy 21) (e.g. OR = 0.21, P < 0.001; OR = 2.78, P = 0.04). The majority of health professionals would inform patients about the mosaicism to facilitate informed decision making. The factor that health professionals identified as most important when discussing the transfer of mosaic embryos was the specific chromosome involved. Different self-rated competencies were found among health professionals with different backgrounds. Geneticists and genetic counsellors had the highest self-rated competencies. CONCLUSIONS: Most health professionals were willing to discuss the mosaicism in the embryo with patients to facilitate informed decision making. However, health professionals' uncertainty towards the transfer of mosaic embryos indicated a lack of a standardized transfer policy. In addition, obstetricians, gynaecologists and those with multiprofessional backgrounds showed deficiencies in several self-rated competencies, suggesting that education targeted to these groups is needed to optimize the quality of care of women considering transfer of mosaic embryos.

Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.

The complexity of genetic variant interpretation means that a proportion of individuals who undergo genetic testing for a hereditary cancer syndrome will have their test result reclassified over time. Such a reclassification may involve a clinically significant upgrade or downgrade in pathogenicity, which may have significant implications for medical management. To date, few studies have examined the psychosocial impact of a reclassification in a hereditary cancer syndrome context. To address this gap, semi-structured telephone interviews were performed with eighteen individuals who had a BRCA1, BRCA2 or Lynch syndrome-related (MLH1, MSH2, MSH6 or PMS2) gene variant reclassified. The interviews were analysed utilising an inductive, qualitative approach and emergent themes were identified by thematic analysis. Variable levels of recall amongst participants were found. Common motivations for initial testing included a significant personal and/or family history of cancer and a desire to "find an answer". No individual whose uncertain result was upgraded reported negative psychosocial outcomes; most reported adapting to their reclassified result and appraised their genetic testing experience positively. However, individuals whose likely pathogenic/pathogenic results were downgraded reported feelings of anger, shock and sadness post reclassification, highlighting that additional psychosocial support may be required for some. Genetic counselling issues and recommendations for clinical practice are outlined.

Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

Since the introduction of genome sequencing in medicine, the factors involved in deciding how to integrate this technology into population screening programs such as Newborn Screening (NBS) have been widely debated. In Australia, participation in NBS is not mandatory, but over 99.9% of parents elect to uptake this screening. Gauging stakeholder attitudes towards potential changes to NBS is vital in maintaining this high participation rate. The current study aimed to determine the knowledge and attitudes of Australian parents and health professionals to the incorporation of genomic sequencing into NBS programs. Participants were surveyed online in 2016 using surveys adapted from previous studies. The majority of parents (90%) self-reported some knowledge of NBS, with 77% expressing an interest in NBS using the new technology. This was significantly lower than those who would utilise NBS using current technologies (99%). Although, many health professionals (62%) felt that new technologies should currently not be used as an adjunct to NBS, 79% foresaw the use of genomic sequencing in NBS by 2026. However, for genomic sequencing to be considered, practical and technical challenges as well as parent information needs were identified including the need for accurate interpretation of data; pre-and post-test counselling; and appropriate parental consent and opt-out process. Therefore, although some support for implementing genomic sequencing into Australian NBS does exist, there is a need for further investigation into the ethical, social, legal and practical implications of introducing this new technology as a replacement to current NBS methods.

Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.

BACKGROUND: Ashkenazi Jewish (AJ) people have a higher incidence of BRCA1/2 pathogenic variants (PVs) than unselected populations. Three BRCA-Jewish founder mutations (B-JFMs) comprise >90% of BRCA1/2 PVs in AJ people. Personal/family cancer history-based testing misses ≥50% of people with B-JFM. METHODS: We compared two population-based B-JFM screening programmes in Australia-using (1) an online tool (Sydney) and (2) in-person group sessions (Melbourne). RESULTS: Of 2167 Jewish people tested (Sydney n=594; Melbourne n=1573), 1.3% (n=28) have a B-JFM, only 2 of whom had a significant cancer family history (Manchester score ≥12). Pretest anxiety scores were normal (mean 9.9±3.5 (6-24)), with no significant post-result change (9.5±3.3). Decisional regret (mean 7.4±13.0 (0-100)), test-related distress (mean 0.8+/2.2 (0-30)) and positive experiences (reverse-scored) (mean 3.4±4.5 (1-20)) scores were low, with no significant differences between Sydney and Melbourne participants. Post-education knowledge was good overall (mean 11.8/15 (±2.9)) and significantly higher in Melbourne than Sydney. Post-result knowledge was the same (mean 11.7 (±2.4) vs 11.2 (±2.4)). Participants with a B-JFM had higher post-result anxiety and test-related distress and lower positive experiences, than those without a B-JFM, but scores were within the normal range. Family cancer history did not significantly affect knowledge or anxiety, or pretest perception of B-JFM or cancer risks. Most participants (93%) were satisfied/very satisfied with the programme. CONCLUSION: Both B-JFM screening programmes are highly acceptable to Australian Jewish communities. The programme enabled identification of several individuals who were previously unaware they have a B-JFM, many of whom would have been ineligible for current criteria-based testing in Australia.

The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie's Mission­the Australian Reproductive Genetic Carrier Screening Project. Mackenzie's Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.

Which Test Is Best? A Cluster-Randomized Controlled Trial of a Risk Calculator and Recommendations on Colorectal Cancer Screening Behaviour in General Practice.

INTRODUCTION: This cluster-randomized controlled trial aimed to assess the effect of the "Which test is best?" tool on risk-appropriate screening (RAS) and colorectal cancer (CRC) screening uptake. METHODS: General practices in Sydney and Melbourne, Australia, and a random sub-sample of 460 patients (aged 25-74 years) per practice were invited by post. Clusters were computer randomized independently of the researchers to an online CRC risk calculator with risk-based recommendations versus usual care. Primary and secondary outcomes were RAS and screening uptake via self-reported 5-year screening behaviour after 12 months follow-up. The usual care group (UCG) also self-reported 5-year CRC screening behaviour at 12 month post-randomization. RESULTS: Fifty-six practices were randomized (27 to the intervention and 29 to the control, 55 practices participated) with 818 intervention and 677 controls completing the primary outcome measure. The intervention significantly increased RAS in high-risk participants compared with UCG (80.0% vs. 64.0%, respectively; OR = 3.14, 95% CI: 1.25-7.96) but not in average-risk (44.9% vs. 49.5%, respectively; OR = 0.97, 95% CI: 0.99-1.12) or moderate-risk individuals (67.9% vs. 81.1%, respectively; OR = 0.40, 95% CI: 0.12-1.33). Faecal occult blood testing uptake over 12 months was increased compared with the UCG (24.9% vs. 15.1%; adjusted OR = 1.66, 95% CI: 1.24-2.22), and there was a non-significant increase in colonoscopies during the same period (16.6% vs. 12.2%; adjusted OR = 1.42, 95% CI: 0.97-2.08). CONCLUSION: An online CRC risk calculator with risk-based screening recommendations increased RAS in high-risk participants and improved screening uptake overall within a 12-month follow-up period. Such tools may be useful for facilitating the uptake of risk-based screening guidelines.

Exploration of decision-making regarding the transfer of mosaic embryos following preimplantation genetic testing: a qualitative study.

STUDY QUESTION: What are patients' reasoning and decisional needs in relation to the transfer of mosaic embryos following preimplantation genetic testing (PGT)? SUMMARY ANSWER: This study identified four themes, which were patients' reasoning behind decision-making, their decisional needs, the influence of the mosaic embryos on the decision-making and the role of health professionals. WHAT IS KNOWN ALREADY: To date, no study has investigated the reasoning of patients behind their decision-making and the influence of mosaic embryos. STUDY DESIGN SIZE DURATION: This is a cross-sectional study using a qualitative approach. Twenty participants were interviewed, and recruitment was ceased when no new information was identified in the data analysis. It ensured a sufficient sample size for a qualitative study. PARTICIPANTS/MATERIALS SETTING METHODS: Participants were females with mosaic embryos. Semi-structured in-depth interviews were conducted via telephone. MAIN RESULTS AND THE ROLE OF CHANCE: Four themes were identified: reasoning behind decision-making, decisional needs, influence of mosaic embryos on decision-making and the role of health professionals. Potential risks of transferring mosaic embryos and prioritization of euploid embryos were the main reasons for not transferring mosaic embryos. A lack of alternatives, perceived benefits and risk tolerance were main reasons for transferring mosaic embryos. Patients reported that information on mosaic embryos, amniocentesis and termination was important to support their decision-making. Unmet needs relating to healthcare services and social support were reported. In addition, having mosaic embryos affected the patients' emotional and behavioural responses, discussions about prenatal testing, attitudes to termination and further IVF cycles and attitudes towards PGT. Health professionals were found to influence the patients' decision-making. LIMITATIONS REASONS FOR CAUTION: Participants were recruited through one clinic, which may limit the transferability of results. Also, patients' experiences in relation to financial aspects of PGT may not be relevant to other jurisdictions due to different healthcare policies. WIDER IMPLICATIONS OF THE FINDINGS: The results may inform how clinicians provide healthcare services based on factors influencing patients' decision-making. Health professionals should be aware of the influence their attitudes can have on patients' decision-making and should present information accordingly. Also, providing all relevant information may help to facilitate informed decision-making. Provision of psychological support from professionals and support groups is also critical during the process of testing and transfer. Patients have educational needs regarding mosaic embryos, and educational resources including decision aids in plain language are needed. STUDY FUNDING/COMPETING INTERESTS: B.M. was funded through a Senior Research Fellowship Level B (ID 1078523) from the National Health and Medical Research Council of Australia. L.C. was supported by a University International Postgraduate Award under the Australian Government Research Training Program (RTP) scholarship. No other funding was received for this study. The authors report no competing interests. TRIAL REGISTRATION NUMBER: N/A.

Parents' understanding of genome and exome sequencing for pediatric health conditions: a systematic review.

Genome and exome sequencing (GS/ES) are increasingly being used in pediatric contexts. We summarize evidence regarding the actual and perceived understanding of GS/ES of parents of a child offered testing for diagnosis and/or management of a symptomatic health condition. We searched four databases (2008-2021) and identified 1264 unique articles, of which 16 met inclusion criteria. We synthesized data from qualitative and quantitative studies and organized results using Ayuso et al. (2013)'s framework of key elements of information for informed consent to GS/ES. Many of the parents represented had prior experience with genetic testing and accessed a form of genetic counseling. Parents' understanding was varied across the domains evaluated. Parents demonstrated understanding of the various potential direct clinical benefits to their child undergoing GS/ES, including in relation to other genetic tests. We found parents had mixed understanding of the nature of potential secondary findings, and of issues related to data privacy, confidentiality, and usage of sequencing results beyond their child's clinical care. Genetic counseling consultations improved understanding. Our synthesis indicates that ES/GS can be challenging for families to understand and underscores the importance of equipping healthcare professionals to explore parents' understanding of ES/GS and the implications of testing for their child.

What's in a Name? Parents' and Healthcare Professionals' Preferred Terminology for Pathogenic Variants in Childhood Cancer Predisposition Genes.

Current literature/guidelines regarding the most appropriate term to communicate a cancer-related disease-causing germline variant in childhood cancer lack consensus. Guidelines also rarely address preferences of patients/families. We aimed to assess preferences of parents of children with cancer, genetics professionals, and pediatric oncologists towards terminology to describe a disease-causing germline variant in childhood cancer. Using semi-structured interviews we asked participants their most/least preferred terms from; 'faulty gene,' 'altered gene,' 'gene change,' and 'genetic variant,' analyzing responses with directed content analysis. Twenty-five parents, 6 genetics professionals, and 29 oncologists participated. An equal number of parents most preferred 'gene change,' 'altered gene,' or 'genetic variant' (n = 8/25). Parents least preferred 'faulty gene' (n = 18/25). Half the genetics professionals most preferred 'faulty gene' (n = 3/6); however this was least preferred by the remaining genetics professionals (n = 3/6). Many oncologists most preferred 'genetic variant' (n = 11/29) and least preferred 'faulty gene' (n = 19/29). Participants across all groups perceived 'faulty gene' as having negative connotations, potentially placing blame/guilt on parents/children. Health professionals described challenges selecting a term that was scientifically accurate, easily understood and not distressing to families. Lack of consensus highlights the need to be guided by families' preferred terminology, while providing accurate explanations regarding implications of genetic findings.

Factors influencing patients' decision-making about preimplantation genetic testing for monogenic disorders.

STUDY QUESTION: What are the roles of individual and interpersonal factors in couples' decision-making regarding preimplantation genetic testing for monogenic disorders (PGT-M)? SUMMARY ANSWER: Couples' decision-making regarding PGT-M was associated with individual and interpersonal factors, that is the perceived consistency of information received, satisfaction with information, self-efficacy (individuals' beliefs in their ability to make decisions), actual knowledge about PGT-M and social support from the partner. WHAT IS KNOWN ALREADY: Various factors have been shown to be associated with decision-making regarding PGT-M. However, PGT-M is experienced at an individual level, and to date, no studies have investigated the roles of the above-mentioned individual and interpersonal factors. STUDY DESIGN, SIZE, DURATION: This is a cross-sectional study with 279 participants. Participants were recruited through IVFAustralia, Sydney Children's Hospital and support groups from May 2020 to November 2021. PARTICIPANTS/MATERIALS, SETTING, METHODS: Participants were women who had undergone or were considering PGT-M and their partners. Participants were recruited through IVFAustralia, Sydney Children's Hospital and support groups to complete online questionnaires. Decisional regret, decisional satisfaction and decisional conflict were measured as outcome variables. Multiple linear regressions were performed to examine the association between factors and outcome variables. Mann-Whitney U tests were performed to test the differences between participants who had undergone PGT-M and those who were considering PGT-M. MAIN RESULTS AND THE ROLE OF CHANCE: For couples who had undergone PGT-M, decisional regret was significantly negatively associated with perceived consistency of information received (ß = -0.26, P < 0.01), self-efficacy (ß = -0.25, P < 0.01) and actual knowledge about PGT-M (ß = -0.30, P < 0.001), while decisional satisfaction had positive association with satisfaction with information received (ß = 0.37, P < 0.001) and self-efficacy (ß = 0.24, P < 0.05). For couples who were considering PGT-M, decisional conflict was negatively associated with satisfaction with information received (ß = -0.56, P < 0.001). For females who had undergone PGT-M, decisional regret was negatively associated with social support from the partner (ß = -0.35, P < 0.05) in addition to perceived consistency of information received (ß = -0.24, P < 0.05). In this group, decisional satisfaction was positively associated with women's satisfaction with the information received (ß = 0.34, P < 0.01), social support from the partner (ß = 0.26, P < 0.05) and self-efficacy (ß = 0.25, P < 0.05). For females who were considering PGT-M, decisional conflict was negatively associated with satisfaction with the information received (ß = -0.43, P < 0.01) and social support from the partner (ß = -0.30, P < 0.05). This study also identified those aspects of PGT-M that couples felt most concerned about in relation to their decision-making, in particular safety issues such as short- or long-term health problems for the baby and potential harms to the embryos and the mother's health. The likelihood of getting pregnant and having a baby with a genetic condition being tested for were also important in couples' decision-making. LIMITATIONS, REASONS FOR CAUTION: This study assessed the concerns of couples about having a baby with a variety of genetic conditions. However, condition-specific issues might not be covered. Furthermore, social support from the partner was assessed among females only. Male participants' perceived social support from their partner and the association between mutual support and decision-making were not assessed due to the absence of dyadic data. WIDER IMPLICATIONS OF THE FINDINGS: Results highlight the importance of effective patient education on PGT-M and the need to provide high-quality and consistent information in the context of patient-centred care. Patients are likely to benefit from information that addresses their specific concerns in relation to PGT-M. From females' perspective, support from partners is essential, and partners should, therefore, be encouraged to participate in all stages of the decision-making process. Suggestions for future studies were made. STUDY FUNDING/COMPETING INTEREST(S): B.M. was funded through a Senior Research Fellowship Level B (ID 1078523) from the National Health and Medical Research Council of Australia. L.C. was supported by a University International Postgraduate Award under the Australian Government Research Training Program (RTP) scholarship. No other funding was received for this study. The authors report no competing interests. TRIAL REGISTRATION NUMBER: N/A.

Health professionals' views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study.

Australian life insurance companies can legally use genetic test results in underwriting, which can lead to genetic discrimination. In 2019, the Financial Services Council (Australian life insurance industry governing body) introduced a partial moratorium restricting the use of genetic testing in underwriting policies ≤ $500,000 (active 2019-2024). Health professionals (HPs), especially clinical geneticists and genetic counsellors, often discuss the implications of genetic testing with patients, and provide critical insights into the effectiveness of the moratorium. Using a sequential explanatory mixed methods design, we interviewed 23 Australian HPs, who regularly discuss genetic testing with patients and had previously completed an online survey about genetic testing and life insurance. Interviews explored views and experiences about the moratorium, and regulation, in greater depth. Interview transcripts were analysed using thematic analysis. Two key themes emerged from views expressed by HPs during interviews (about matters reported to or observed by them): 1) benefits of the moratorium, and 2) concerns about the moratorium. While HPs reported that the moratorium reassures some consumers, concerns include industry self-regulation, uncertainty created by the temporary time period, and the inadequacy of the moratorium's financial limits for patients' financial needs. Although a minority of HPs felt the current industry self-regulated moratorium is an adequate solution to genetic discrimination, the vast majority (19/23) expressed concern with industry self-regulation and most felt government regulation is required to adequately protect consumers. HPs in Australia are concerned about the adequacy of the FSC moratorium with regards to consumer protections, and suggest government regulation is required.

Perceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives.

Rapid advances in the genetics of psychiatric disorders mean that diagnostic and predictive genetic testing for schizophrenia risk may one day be a reality. This study examined how causal attributions for schizophrenia contribute to interest in a hypothetical genetic test. People with schizophrenia and first-degree relatives of people with schizophrenia were recruited through a schizophrenia research bank and mental health organisation. Semi-structured telephone interviews were conducted with 13 individuals with schizophrenia and 8 first-degree relatives. Transcripts were subjected to a qualitative analysis using the thematic analysis framework. Five themes were developed: (i) "It is like a cocktail", with most participants aware that both genetic and environmental factors contributed to causation, and many mentioning the positive impact of genetic causal explanations; (ii) "Knowledge is power" (i.e., in favour of genetic testing); (iii) Genetic testing provides opportunities for early intervention and avoiding triggers, with participants citing a wide range of perceived benefits of genetic testing but few risks; (iv) Views on reproductive genetic testing for schizophrenia risk with a few participants viewing it as "playing God" but not necessarily being against it; and (v) "It snowballs", whereby participants' understanding of genetics was sophisticated with most believing that multiple rather than single genes contributed to schizophrenia. In conclusion, many individuals had a sound understanding of the role of genetic testing if it were to become available, with evidence of insight into the role of multiple genes and the contribution of other risk factors that may interact with any inherited genetic risk.

Decisional needs of patients considering preimplantation genetic testing: a systematic review.

This systematic review reports on the needs and sources of support in patients' decision-making regarding the uptake of preimplantation genetic testing (PGT). Five databases were searched systematically to capture qualitative and quantitative studies. A total of 2336 studies were screened by title and abstract. Twelve studies met the eligibility criteria and reported on 4047 participants. This systematic review shows that patients need information directly relevant to PGT treatment, and information on health care relating to treatment and alternative reproductive options. Information that is too detailed, excessive and contains a large volume of medical terminology can be a barrier to decision-making. Published research suggests that health professionals provide general information on PGT and discuss it in detail only when patients require more information about it. Additionally, studies have shown that patients receive decisional support through mass media, significant persons in their lives and health professionals, whereas referring obstetricians and gynaecologists provided relatively less help compared with other health professionals. This systematic review highlights the importance of developing decision aids that meet patients' decisional needs as indicated in previous studies and that use innovative formats to deliver information. Additionally, given rapid technical developments, a dearth of continuing professional education is available on PGT for clinicians to keep updated.