Equity, diversity, and inclusion at the Global Alliance for Genomics and Health

A lack of diversity in genomics for health continues to hinder equitable leadership and access to precision medicine approaches for underrepresented populations. To avoid perpetuating biases within the genomics workforce and genomic data collection practices, equity, diversity, and inclusion (EDI) must be addressed. This paper documents the journey taken by the Global Alliance for Genomics and Health (a genomics-based standard-setting and policy-framing organization) to create a more equitable, diverse, and inclusive environment for its standards and members. Initial steps include the creation of two groups: the Equity, Diversity, and Inclusion Advisory Group and the Regulatory and Ethics Diversity Group. Following a framework that we call "Reflected in our Teams, Reflected in our Standards," both groups address EDI at different stages in their policy development process. [Abstract copyright: © 2023 The Author(s).

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits

The ethics approval process for multisite research studies in Australia: changes sought by the Australian Genomics initiative

Australian Genomics is calling for a change in research ethics and governance frameworks Australian Genomics is a national initiative building evidence to ensure the effective implementation of genomic medicine into Australian health care (www.australiangenomics.org.au). The research program is embedded in clinical practice, with 5000 patients with rare diseases and cancers being prospectively recruited for genomic testing into clinical flagship projects through 31 hospitals across Australia (Box 1). Achieving national recruitment will ensure that the clinical, diagnostic and research pathways are developed through the infrastructure and workforce in each jurisdiction. We initiated the research ethics and governance approval process for our multisite human research project, which was eligible for single ethical review by one Human Research Ethics Committee under the Australian National Mutual Acceptance (NMA) framework (Box 2), and recorded details relating to our experience in navigating the research ethics and governance system. This included any site‐specific assessment (SSA) requirements, review time, personnel costs, and causes of delay. When NMA was introduced, it was envisaged that the reform would consolidate a nationalised ethics review system.1 Internationally, Australia's NMA ethics review process has been lauded as a streamlined system, leading the way for other countries.2, 3 In the United States and Canada, the institutional review board system requires researchers to apply to each institution in a multicentre study. Researchers report little harmonisation in application requirements, considerable expense and time to prepare applications, and a lack of consistency in institutional review board response to projects in multicentre studies.2 However, Canada and the US have initiated single multisite review systems. Implementation in Canada will be relevant to Australia's situation, as they share a similar federated model of government. Until recently, in the United Kingdom, multicentre studies were served by Research Ethics Committees, with local Research Ethics Committees charged with subsequently reviewing projects for local issues. Three years after the introduction of this system in 1997, one study, in which a multicentre Research Ethics Committee‐approved project was then propagated to 125 local Research Ethics Committees, found that while approval times had improved, 67% of changes requested by local Research Ethics Committees were considered non‐local and thus outside their prerogative. Issues also remained around costs to prepare applications and transparency of information for researchers.4 These issues resonate with our experience of NMA in Australia. In 2015, a new Health Research Authority run by the National Health Service and backed by new legislation was introduced in the UK to manage ethics approvals nationally, in a model reform Australia could consider. The Human Heredity and Health in Africa initiative is undertaking the ethics review process for genomic studies across Africa. A recent report on the challenges faced by this initiative suggested that the main barrier to ethics approval is a lack of genomic expertise within ethics committees.5 With increasing international data sharing efforts, internationally compatible solutions to research ethics issues need to be developed. The Global Alliance for Genomics and Health has developed an ethics review recognition policy,6 and Australia could continue to demonstrate leadership internationally if remaining challenges to multijurisdictional research were addressed.The Australian Genomics Health Alliance is funded by a National Health and Medical Research Council grant (Grant Reference No. 1113531) and the Australian Government’s Medical Research Future Fun

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.</p

Parental health spillover effects of paediatric rare genetic conditions

Purpose The complexity and severity of rare genetic conditions pose substantial burden to families. While the importance of spillovers on carers' health in resource allocation decisions is increasingly recognised, there is significant lack of empirical evidence in the context of rare diseases. The objective of this study was to estimate the health spillovers of paediatric rare genetic conditions on parents. Methods Health-related quality-of-life (HRQoL) data from children with rare genetic conditions (genetic kidney diseases, mitochondrial diseases, epileptic encephalopathies, brain malformations) and their parents were collected using the CHU9D and SF-12 measures, respectively. We used two approaches to estimate parental health spillovers. To quantify the 'absolute health spillover', we matched our parent cohort to the Australian general population. To quantify the 'relative health spillover', regression models were applied using the cohort data. Results Parents of affected children had significantly lower HRQoL compared to matched parents in the general public (- 0.06; 95% CIs - 0.08, - 0.04). Multivariable regression demonstrated a positive association between parental and child health. The mean magnitude of HRQoL loss in parents was estimated to be 33% of the HRQoL loss observed in children (95% CIs 21%, 46%). Conclusion Paediatric rare genetic conditions appear to be associated with substantial parental health spillovers. This highlights the importance of including health effects on family members and caregivers into economic evaluation of genomic technologies and personalised medicine. Overlooking spillover effects may undervalue the benefits of diagnosis and management in this context. This study also expands the knowledge of family spillover to the rare disease spectrum

A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol

(1) Background: Genomic precision medicine (PM) utilises people’s genomic data to inform the delivery of preventive and therapeutic health care. PM has not been well-established for use with people of Aboriginal and Torres Strait Islander ancestry due to the paucity of genomic data from these communities. We report the development of a new protocol using co-design methods to enhance the potential use of PM for Aboriginal Australians. (2) Methods: This iterative qualitative study consists of five main phases. Phase-I will ensure appropriate governance of the project and establishment of a Project Advisory Committee. Following an initial consultation with the Aboriginal community, Phase-II will invite community members to participate in co-design workshops. In Phase-III, the Chief Investigators will participate in co-design workshops and document generated ideas. The notes shall be analysed thematically in Phase-IV with Aboriginal community representatives, and the summary will be disseminated to the communities. In Phase-V, we will evaluate the co-design process and adapt our protocol for the use in partnership with other communities. (3) Discussion: This study protocol represents a crucial first step to ensure that PM research is relevant and acceptable to Aboriginal Australians. Without fair access to PM, the gap in health outcome between Aboriginal and non-Aboriginal Australians will continue to widen

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

AbstractAustralian 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

Registered access: authorizing data access

The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model-"registered access"-to increase and improve access to data requiring an agreement to basic terms and conditions, such as the use of DNA sequence and health data in research. A registered access policy would enable a range of categories of users to gain access, starting with researchers and clinical care professionals. It would also facilitate general use and reuse of data but within the bounds of consent restrictions and other ethical obligations. In piloting registered access with the Scientific Demonstration data sharing projects of GA4GH, we provide additional ethics, policy and technical guidance to facilitate the implementation of this access model in an international setting