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Background The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here we investigate the experience of people, or parents of children with a diagnosed mitochondrial respiratory chain disorder (MRCD) in the management of their disease. The work complements ongoing projects around implementation of consensus recommendations for management of people with MRCD. People with or caring for a child with a formally diagnosed MRCD were invited to take part in an hour-long focus group held via videoconference. Questions elicited experiences of receiving management advice or information specific to their MRCD in four areas drawn from the consensus recommendations: diet and supplements, exercise, access to social services, and mental health. Sessions were audio-recorded, transcribed and analysed using a combination of inductive and deductive coding. Results Focus groups were conducted with 20 participants from five Australian states in June–September 2020. Fourteen adults with a MRCD (three of whom also had a child with a MRCD), and six who cared for a child with a MRCD took part. The overarching finding was that of the need for ongoing negotiation to access the advice and service required to manage their condition. The nature of these negotiations varied across contexts but mostly related to joint decision-making, and more commonly, the need to advocate for their care with non-specialist services (e.g., dieticians, schools). The effort required for this self-advocacy was a prominent theme. While most participants reported receiving adequate advice around supplements, and to a lesser extent diet and exercise, the majority reported no formal advice around mental health or practical assistance accessing social services. Conclusion These focus groups have revealed several gaps in the system for people with a MRCD, interacting with care providers after diagnosis. Focus group participants had to negotiate with a range of different stakeholders in order to secure appropriate advice or services. Notable was the gap in appropriate generalist services (e.g., dieticians) with sufficient knowledge of MRCD to support people with their day-to-day challenges.

Recent advances in genomic sequencing have improved the accessibility of reproductive genetic carrier screening (RGCS). As awareness and interest grows, non-genetic health care professionals are increasingly offering RGCS to consumers. We conducted a qualitative interview study informed by behaviour change theory to identify influences on health care professionals considered as ‘early adopters’ offering RGCS through Mackenzie’s Mission, an Australian national research study investigating the implementation of free RGCS to couple’s preconception or in early pregnancy. Interviews were deductively analysed using the Theoretical Domains Framework to examine barriers and enabling factors. In total, we interviewed 31 health care professionals, who were primarily general practitioners (n = 23) offering RGCS through Mackenzie’s Mission. Upon analysis, 15 barriers and 44 enablers to implementation were identified and categorised across three health care professional target behaviours 1. Engaging with RGCS, 2. Identifying eligible patients, and 3. Offering RGCS. Whilst all Theoretical Domains Framework domains were present, barriers were predominantly categorised as ‘Environmental Context and Resources’ e.g., lack of time, followed by ‘Knowledge’ e.g., lack of understanding about genetics and ‘Beliefs about Capabilities’ e.g., concern about giving high risk results to patients. Although health care professionals expressed a preference for offering RGCS through a comprehensive and supported model of care, such as Mackenzie’s Mission, barriers remain. By understanding what drives current health care professionals’ behaviour towards offering RGCS, behaviour change theory provides an avenue to direct future efforts based on evidence and improve service delivery.

Background As interest in reproductive genetic carrier screening rises, with increased availability, the role of healthcare practitioners is central in guiding uptake aligned with a couples' values and beliefs. Therefore, practitioners' views on implementation are critical to the success of any reproductive genetic carrier screening programme. Aim To explore healthcare practitioners' perceptions of the barriers and enablers to implementation. Materials & Methods We undertook a systematic review of the literature searching seven databases using health practitioner, screening and implementation terms returning 490 articles. Results Screening led to the inclusion of 26 articles for full‐text review. We found three interconnected themes relating to reproductive genetic carrier screening: (i) use and impact, (ii) practitioners' beliefs and expectations and (iii) resources. Discussion Barriers and enablers to implementation were present within each theme and grouping these determinants by (a) community for example lack of public interest, (b) practitioner for example lack of practitioner time and (c) organisation for example lack of effective metrics, reveals a preponderance of practitioner barriers and organisational enablers. Linking barriers with potential enablers leaves several barriers unresolved (e.g., costs for couples) implying additional interventions may be required. Conclusion Future research should draw on the findings from this study to develop and test strategies to facilitate appropriate offering of reproductive genetic carrier screening by healthcare practitioners., Key Points What is already known? Availability of reproductive genetic carrier screening is rising.Screening is often focused on ethnically specific conditions or for those with a family history of disease.Commonly, carriers do not have family history of disease. What does this review add? Identifies practitioner barriers to implementation of reproductive genetic carrier screening, for example, beliefs and expectations.Matches identified practitioner barriers to enablers to implementation.Highlights where additional implementation support is required, for example, lack of practitioner confidence.

ObjectiveTo identify the risk factors associated with complaints, malpractice claims and impaired performance in medical practitioners.DesignSystematic review.Data sourcesOvid-Medline, Ovid Embase, Scopus and Cochrane Central Register of Controlled Trials were searched from 2011 until March 2020. Reference lists and Google were also handsearched.ResultsSixty-seven peer-reviewed papers and three grey literature publications from 2011 to March 2020 were reviewed by pairs of independent reviewers. Twenty-three key factors identified, which were categorised as demographic or workplace related. Gender, age, years spent in practice and greater number of patient lists were associated with higher risk of malpractice claim or complaint. Risk factors associated with physician impaired performance included substance abuse and burn-out.ConclusionsIt is likely that risk factors are interdependent with no single factor as a strong predictor of a doctor’s risk to the public. Risk factors for malpractice claim or complaint are likely to be country specific due to differences in governance structures, processes and funding. Risk factors for impaired performance are likely to be specialty specific due to differences in work culture and access to substances. New ways of supporting doctors might be developed, using risk factor data to reduce adverse events and patient harm.PROSPERO registration numberPROSPERO registration number: CRD42020182045.