This Position Statement provides guidelines for health professionals who work with individuals and families seeking predictive genetic testing and laboratory staff conducting the tests. It presents 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 cognitive capacity.

Predictive Testing Recommendations: (1) Predictive testing in adults, young people and children should only be offered with pretest genetic counseling, and the option of post-test genetic counseling. (2) An individual considering whether to have a predictive test should be supported to make an autonomous and informed decision. Regarding Children and Young People: (1) 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. (2) Where symptoms are likely to develop in childhood, in the absence of direct medical benefit from this knowledge, 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. (3) 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 an autonomous and informed decision. This is applicable regardless of whether there is some action that can be taken in adulthood.

In 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.

An increasing number of neurodegenerative diseases have been defined at the molecular level in recent years, making it possible to determine precisely the genotype before the onset of symptoms. Pre-symptomatic testing programs are available for Huntington disease (HD), hereditary cerebral haemorrhage with amyloid-Dutch type, inherited cerebral ataxia, myotonic dystrophy, and Alzheimer disease. Although treatment options such as gene therapy have no widespread application until now, and much has to be developed, the use of predictive DNA-diagnostics has become a clinical application for a number of hereditary diseases. For psychiatric disorders such as schizophrenia or bipolar disorders, there are indications for localisation of the genetic factors, but clinical use of genetics is still far from reality. Yet, the increasing knowledge about genetics will have far-reaching influence in most fields of modern medicine and in health care provisions.

Research aimed at identifying genes contributing to the aetiology of psychological disorders is in progress. This raises the possibility that genetic testing for such genes might become available. In this paper the possible psychological consequences of genetic testing for psychological disorders are examined. It is proposed that genetic testing may cause psychological and behavioural reactions that actually increase the person’s risk of developing a psychological disorder or may maintain existing problems. It is also suggested that cognitive-behavioural models may be able to aid prediction of some of the likely consequences of testing and identify people who are likely to react in particularly negative ways to news of their genetic risk. If genetic tests for psychological disorders are developed, it is important that research is carried out into the psychological and behavioural effects of testing and ways of minimizing adverse effects, before such tests become widely available.