Under-represented groups in databases

Thank you to our partner RCPAQAP for their support in producing this podcast episode.

Can genetic tests that appear highly effective in one population, perform less well in another if genetic diversity is not represented in databases?

In this episode of The Pathology Report, host Dr Ian Gassiep is joined by genetic pathologists Dr Eric Lee and Prof Edwin Kirk, and clinical biochemist and Chief Scientific Officer at RCPAQAP A/Prof Tony Badrick, to discuss under-represented groups with a focus on genetic carrier screening.

Key topics discussed include: The current Australian screening program, which targets three genes and their associated conditions: cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA). Limitations of targeted screening and panels developed around variants more common in Caucasian populations, and the under-representation of Aboriginal and Torres Strait Islander peoples and other populations. Learnings from the Mackenzie’s Mission project, which offered expanded carrier screening of approximately 1300 genes for up 10,000 couples across Australia. Limitations of genetic carrier screening in relation to healthcare equity and access. The importance of post-test support and counselling, and the impact on the healthcare system if large-scale screening was to expand. The benefits of genetic carrier screening including reproductive autonomy for individuals.

Improving representation in databases has the potential to make genetic testing and interpretation more accurate, and help to reduce biases arising from ancestry, socioeconomic status, education and access.

Episode links Mackenzie’s Mission | Home

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