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AbstractHuman genetic and genomic information (HGI) is being generated, utilized and accessed across a wide range of healthcare settings. While traditionally clinical genetics services have maintained guardianship and enforced rigid protections of human genetic information, this is no longer practical or feasible as genetic knowledge continues to evolve, expand and inform various aspects of healthcare. Today, many healthcare professionals of varied backgrounds and areas of expertise are looking to genetic and genomic information to screen and/or diagnose genetic conditions and to guide medical management and treatment options. This position statement provides guidance for all healthcare professionals who may be handling human genetic and/or genomic information as part of their practice and outlines considerations relevant to protection, storage, access and sharing of HGI in Australasia. Illustrative cases are used to highlight various sensitivities of genetic and genomic information and challenges these may pose in modern healthcare settings. In essence, this position statement seeks to highlight and advocate for both individual interests as well as the interests of the broader family network.

AbstractKnowledge of genetic mechanisms contributing to neurodevelopmental conditions is advancing. This is informing development of new drugs to treat or ameliorate these conditions, through targeting underlying genetic pathways. Drugs are tested in clinical trials, necessitating parents to engage with decisions about whether to enroll their child. In this article, we consider important ethical issues to anticipate as clinical research opportunities in genetic neurodevelopmental conditions arise. For example, genetic pathways targeted by the drugs may interact with valued character and personality traits. It is essential that recruitment and consent processes are optimized for families who will grapple with whether these novel drug treatments interact with their child's personality and authentic identity. We call for focused social science research and further normative analysis so that parents are better supported to make informed choices. Additionally, clinical research regulators should have a sound understanding of the contextual experiences regarding how this population of parents engages with decisions.

Background: Regulating the use of genetic information in insurance is an issue of ongoing international debate. In Australia, providers of life and other mutually rated insurance products can request applicants to disclose all results from any genetic test. Insurers can then use this information to adjust premiums and make policy decisions. The Australian Financial Services Council (FSC; an industry body) developed and maintains the relevant industry standard, which was updated in late 2016. Aims/Objective: To review the 2016 FSC Standard in light of relevant research and determine the legitimacy of the Australian regulatory environment regarding use of genetic information by insurers. Results: We identified five concerns arising from the 2016 FSC Standard: (1) use of results obtained from research; (2) the requirement for an applicant to disclose whether they are "considering" a genetic test; (3) failure to account for genome sequencing and other technology developments; (4) limited evidence regarding adverse selection; and (5) the inappropriateness of industry self-regulation. Conclusion: Industry self-regulation of the use of genetic information by life insurers, combined with a lack of government oversight, is inappropriate and threatens to impede the progress of genomic medicine in Australia. At this critical time, Australia requires closer government oversight of the use of genetic information in insurance.

AbstractIn 2020, the Human Genetics Society of Australasia released its Position Statement on Predictive and Presymptomatic Genetic Testing in Adults and Children. This Position Statement synthesizes the major practical, psychosocial and ethical considerations associated with presymptomatic and predictive genetic testing in adults who have the capacity to make a decision, children and young people who lack capacity and adults living with reduced or fluctuating capacity. Recommendations include that predictive testing in adults, young people and children should only be offered with pretest genetic counseling and the option of posttest genetic counseling. An individual considering (for themselves or on behalf of another) whether to have a predictive test should also be supported to allow them to make an autonomous and informed decision. Predictive testing should only be offered to children and young people for conditions where there is likely to be a direct medical benefit to them through surveillance, use of prevention strategies or other medical interventions in the immediate future. Where symptoms are likely to develop in childhood, in the absence of options to implement surveillance or risk reduction measures, genetic health professionals and parents/guardians should discuss whether undertaking predictive testing is the best course of action for the child and the family as a whole. Where symptoms are likely to develop in adulthood, the default position should be to postpone predictive testing until the young person achieves the capacity to make their own autonomous and informed decision.

The expansion of genetic and genomic testing in clinical practice and research and the growing market for at home personal genome testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or genomic information can be requested by providers of mutually rated insurance products, who may then use it when setting premiums or determining eligibility for cover under a particular product. Australian insurers are subject to relevant legislation and an industry standard that was updated in late 2016. In 2018, the Human Genetics Society of Australasia updated its position statement on genetic testing and life insurance to account for these changes and to increase the scope of the statement to include a wider scope of insurance products that are not rated according to community risk, such as life, critical care, and income protection products. Recommendations include that providers of professional education involving genetics should include ethical, legal, and social aspects of insurance discrimination in their curricula; that the Australian government take a more active role in regulating use of genetic information in personal insurance, including enacting a moratorium on use of genetic test results; that information obtained in the course of a research project be excluded; and that there is improved engagement between the insurance industry, regulators, and the genetics profession.

AbstractThis Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests.In this Statement, the term 'carrier testing' refers to genetic testing in an individual to determine whether they have inherited a pathogenic variant associated with an autosomal or X-linked recessive condition previously identified in a blood relative. Carrier testing recommendations: (1) Carrier testing should only be performed with the individual's knowledge and consent; (2) An individual considering (for themselves, or on behalf of another) whether to have a carrier test should be supported to make an informed decision; (3) The mode of inheritance, the individual's personal experience with the condition, and the healthcare setting in which the test is being performed should be considered when determining whether carrier testing should be offered by a genetic health professional. Regarding children and young people: Unless there is direct medical benefit in the immediate future, the default position should be to postpone carrier testing until the child or young person can be supported to make an informed decision. There may be some specific situations where it is appropriate to facilitate carrier testing in children and young people (see section in this article). In such cases, testing should only be offered with pre- and post-test genetic counseling in which genetic health professionals and parents/guardians should explore the rationale for testing and the interests of the child and the family.

AbstractThe expansion of genetic and genomic testing in clinical practice and research, and the growing market for direct-to-consumer genomic testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or genomic information can be requested by providers of mutually rated insurance products, who may then use it when setting premiums or determining eligibility for cover under a particular product. Australian insurers are subject to relevant legislation and an industry led standard that was updated in 2019 to introduce a moratorium on the use of genetic test results in life insurance underwriting for policies <AU$500K. The Human Genetics Society of Australasia has updated its position statement on genetic testing and life insurance to account for these changes and to increase the scope of the statement to include a wider range of personally-rated insurance products, such as life, critical care, and income protection products. Recommendations include that: providers of professional education involving genetics should include ethical, legal, and social aspects of insurance discrimination in their curricula; the Australian Government take a more active role in regulating use of genetic information in personal insurance; that information obtained in the course of a research project be excluded; insurers seek expert advice when making underwriting decisions regarding genetic testing; and engagement between the insurance industry, regulators, and the genetics profession be improved.

<b><i>Aim:</i></b> To explore the potential emotional and behavioural impact of providing information on personalised genomic risk to the public, using melanoma as an example, to aid research translation. <b><i>Methods:</i></b> We conducted four focus groups in which 34 participants were presented with a hypothetical scenario of an individual's lifetime genomic risk of melanoma (using the term 'genetic risk'). We asked about understanding of genetic risk, who would choose to receive this risk information, potential emotional and behavioural impacts, and other concerns or potential benefits. Data were analysed thematically. <b><i>Results:</i></b> Participants thought this risk information could potentially motivate preventive behaviours such as sun protection and related it to screening for other diseases including breast cancer. Factors identified as influencing the decision to receive genetic risk information included education level, children, age and gender. Participants identified potential negative impacts on the recipient such as anxiety and worry, and proposed that this could be mitigated by providing additional explanatory and prevention information, and contact details of a health professional for further discussion. Participants' concerns included workplace and insurance discrimination. <b><i>Conclusion:</i></b> Participants recognised the potential for both positive and negative emotional and behavioural impacts related to receiving information on the personalised genomic risk of melanoma.

Dynamic consent (DC) is an approach to consent that enables people, through an interactive digital interface, to make granular decisions about their ongoing participation. This approach has been explored within biomedical research, in fields such as biobanking and genomics, where ongoing contact is required with participants. It is posited that DC can enhance decisional autonomy and improve researcher–participant communication. Currently, there is a lack of evidence about the measurable effects of DC-based tools. This article outlines a framework for DC evaluation and reporting. The article draws upon the evidence for enhanced modes of informed consent for research as the basis for a logic model. It outlines how future evaluations of DC should be designed to maximize their quality, replicability, and relevance based on this framework. Finally, the article considers best-practice for reporting studies that assess DC, to enable future research and implementation to build upon the emerging evidence base.

AbstractConsiderable progress continues to be made with regards to the value and use of disease associated polygenic scores (PGS). PGS aim to capture a person's genetic liability to a condition, disease, or a trait, combining information across many risk variants and incorporating their effect sizes. They are already available for clinicians and consumers to order in Australasia. However, debate is ongoing over the readiness of this information for integration into clinical practice and population health. This position statement provides the viewpoint of the Human Genetics Society of Australasia (HGSA) regarding the clinical application of disease-associated PGS in both individual patients and population health. The statement details how PGS are calculated, highlights their breadth of possible application, and examines their current challenges and limitations. We consider fundamental lessons from Mendelian genetics and their continuing relevance to PGS, while also acknowledging the distinct elements of PGS. Use of PGS in practice should be evidence based, and the evidence for the associated benefit, while rapidly emerging, remains limited. Given that clinicians and consumers can already order PGS, their current limitations and key issues warrant consideration. PGS can be developed for most complex conditions and traits and can be used across multiple clinical settings and for population health. The HGSA's view is that further evaluation, including regulatory, implementation and health system evaluation are required before PGS can be routinely implemented in the Australasian healthcare system.