Publications by authors named "Elaine Stackpoole"

Article Synopsis
  • Diagnostic genomic sequencing is becoming essential in nephrology, with efforts to enhance its national implementation to benefit patient outcomes.
  • A national study established 20 kidney genetics clinics across Australia from 2013 to 2022, offering genomic testing for patients with suspected monogenic kidney diseases and facilitating the collection of data on diagnostic experiences.
  • The initiative successfully integrated a multidisciplinary approach to kidney genetics, optimizing care for patients while adapting to ongoing technological advancements and preparing for broader healthcare funding for genomic testing.
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Background: Consumer genomic testing for nutrition and wellness, (nutritional genomics), is becoming increasingly popular. Concurrently, health-care practitioners (HPs) working in private practice (including doctors interested in integrative medicine, private genetic counsellors, pharmacists, dieticians, naturopaths and nutritionists) are involved as test facilitators or interpreters.

Objective: To explore Australian consumers' and HPs' experiences with nutrigenomic testing.

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Personal genomic tests (PGTs) for multiple purposes are marketed to ostensibly healthy people in Australia. These tests are generally marketed and purchased online commercially or can be ordered through a health professional. There has been minimal engagement with Australians about their interest in and experience with ordering a PGT.

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Personal genomic testing using direct-to-consumer and consumer-directed models, with or without involvement of healthcare providers, is increasing internationally, including in Australia. This study forms a sub-set of the Genioz study - Genomics: National Insights of Australians. We aimed to explore Australians' experiences with these types of tests, especially online DNA tests, and their views regarding whom they would seek support from around understanding test results.

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