Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health. Twin Res Hum Genet.

Young MA, Yanes T, Cust AE, Dunlop K, Limb S, Newson AJ, Purvis R, Thiyagarajan L, Scott RJ, Verma K, James PA, Steinberg J. Twin Res Hum Genet. 2023 Mar 23:1-9. doi: 10.1017/thg.2023.10. Epub ahead of print. PMID: 36950972.


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.