Kristen J. Nowak

Description:Genetic testing can provide risk information to individuals and their blood relatives. Cascade testing uptake by at-risk relatives is <50%, with suboptimal family communication a key barrier to risk notification. The practice of health professionals (HPs) directly contacting relatives (with patient consent) to assist with risk notification has significant international support, but little is known about the practices and views of HPs in Australia. We surveyed Australian clinical genetics and laboratory services (public and private) which offer genetic testing of relevance to relatives, about current practices and views. Of 104 services invited, 78 responded to our online survey (75.0% response rate; clinical n = 59/81; laboratory n = 19/23). Most clinical services (83.3%) agreed it would be beneficial to contact at-risk relatives directly. However, the majority (80.4%) do not routinely contact relatives directly, with inadequate resources (80.0%) and privacy concerns (62.2%) cited as primary reasons. If direct contact methods were used, most clinical services (65.4%) prefer a letter which includes specific information about the genetic condition. Most clinical (86.5%) and laboratory (88.2%) services saw benefit in the development of a national clinical guideline for HPs regarding direct contact. This study confirms that most clinical genetics services would see benefits to being able to assist patients by contacting relatives directly about their potential genetic risk. Our findings highlight the need for a national clinical guideline clarifying HPs' legal and privacy obligations, and provide an opportunity for clinical services to reconsider their allocation of resources to prioritise assisting patients with risk notification.

Description:Genetic testing of blood relatives of individuals at high risk of dominant conditions has significant preventive health benefits. However, cascade testing uptake is <50%. Research shows increased testing uptake when health professionals (HPs) contact at-risk relatives directly, with patient consent. Despite international support, this is not standard practice in Australia. We aimed to gather perspectives of genetic testing patients about direct-contact methods. Using an online survey, we surveyed Australian adults with genetic results of relevance for relatives, including patients who (i) self-categorised as being directly contacted by a clinical service, (ii) self-categorised as being referred by a HP, and (iii) received genetic results through a research study. Overall, 442 patients responded (clinical n = 363; research n = 79). Clinical patients self-categorised as 49.0% directly-contacted and 51.0% referred. Overall, the majority of patients had no privacy concerns about direct-contact methods (direct-contact 97%; referred 77%; research 76%). Less than 5% of the combined cohort (n = 19/442) reported significant concerns. The most prevalent concerns were the need for consent to provide HPs with relatives' contact details, and a patient preference to notify relatives before HP contact. Other key findings include preferences about contact methods, including that most patients who received a letter from a genetics service preferred a letter with specific information about the familial genetic condition (n = 141/149; 94.6%) than one with general information about genetic risk. Our findings indicate Australian patients support HPs using direct-contact methods to assist with risk communication to relatives. Findings also identify concerns to be addressed in the design of direct-contact programs.

Description:New paradigms of diagnosis and treatment have changed the neurodegenerative trajectory for individuals with spinal muscular atrophy (SMA). Registries are a critical tool to provide real-world data on treatment patterns, their effects and health care provision within this evolving paradigm of care. This study aimed to evaluate the phenotypic and genotypic landscape, treatment patterns and health impact of SMA in Australia through the national registry. This cross-sectional study investigated demographic, clinical and genetic information, sequelae of weakness, treatment patterns and patient-reported outcomes amongst individuals with SMA enrolled in the Australian Neuromuscular Disease Registry (ANMDR) from 1st January 2020 to 30th April 2023. Descriptive statistics were used for analysis and Chi-Squared or Fisher's exact tests for associations. 195 individuals with SMA enrolled into the ANMDR. 5/195 (2.6%) were deceased by censor date. Of (n = 190) individuals living with SMA, 104/190 (54.7%) were children. Minimum Australian prevalence was 0.73/100,000. SMN2 copies were inversely associated with phenotype in those with homozygous SMN1 deletions (p < 0.0001)). Treatment was utilised in 154/190 (81%) of the population, with 65/137 (47.6%) of individuals perceiving improvements with therapeutic intervention on Patient/Parent Global Impression of Improvement scale (p < 0.0001). Engagement with multidisciplinary care practitioners was significantly higher among children with SMA than adults (93% versus 12%, p < 0.0001). Despite diagnostic and therapeutic advances, mortality and the multi-systemic health impact of SMA continue to be experienced within the Australian population. Healthcare provision must align with patient-centred outcomes, adapting to meeting their changing but ongoing care requirements. The study identified the considerable unmet need for multidisciplinary care, not only for adults with SMA but also for the emerging cohort of treated children, emphasising the imperative for comprehensive healthcare provision to address their evolving needs. No funding was received for this study.

Description: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.

Description:Genetic risk information has relevance for patients' blood relatives. However, cascade testing uptake in at-risk families is <50%. International research supports direct notification of at-risk relatives by health professionals (HPs), with patient consent. However, HPs express concerns about the privacy implications of this practice. Our privacy analysis, grounded in a clinically relevant hypothetical scenario, considers the types of personal information involved in direct notification of at-risk relatives and the application of Australian privacy regulations. It finds that collecting relatives' contact details, and using those details (with patient consent) to notify relatives of possible genetic risk, does not breach Australian privacy law, providing that HPs adhere to regulatory requirements. It finds the purported "right to know" does not prevent disclosure of genetic information to at-risk relatives. Finally, the analysis confirms that the discretion available to HPs does not equate to a positive duty to warn at-risk relatives. Thus, direct notification of a patient's at-risk relatives regarding medically actionable genetic information, with patient consent, is not a breach of Australian privacy regulations, providing it is conducted in accordance with the applicable principles set out. Clinical services should consider offering this service to patients where appropriate. National guidelines would assist with the clarification of the discretion for HPs.